Q06187

EV
Gene name
BTK (AGMX1, ATK, BPK)
Protein name
Tyrosine-protein kinase BTK
Names
EC 2.7.10.2 , Agammaglobulinemia tyrosine kinase , ATK , B-cell progenitor kinase , BPK , Bruton tyrosine kinase
Species
Homo sapiens (Human)
KEGG Pathway
hsa:695
EC number
2.7.10.2: Protein-tyrosine kinases
Protein Class
TYROSINE-PROTEIN KINASE (PTHR24418)

Descriptions

BTK is a non-receptor tyrosine kinase that belongs to the TEC family. The five members of the TEC family kinases (BTK, ITK, TEC, TXK, and BMX) are expressed in various hematopoietic cell lineages and relay signals downstream of multiple immunological receptors. BTK has been most well studied in B cells in the context of B-cell receptor (BCR) signaling, but it also plays a role in macrophages, mast cells, and dendritic cells downstream of Fc receptors and Toll-like receptors (TLRs). Antigen binding to the BCR triggers the activation of a trio of tyrosine kinases: LYN, SYK, and BTK. Association of BTK with PIP3 and SLP-65 activates BTK, which phosphorylates and activates PLCγ2.
BTK autoinhibition involves intramolecular interactions that maintain the kinase in an inactive conformation. The regulatory domains involved in BTK autoinhibition include the SH3, SH2, SH2-kinase link, and PH domains. Specific interactions include the binding of the SH3 domain to the SH2-kinase linker, SH2-kinase linker interaction with the kinase domain, and the SH2 domain docking onto the C-lobe of the kinase domain. The PH domain also plays a role by interacting with the kinase domain.
Specifically, the intramolecular interaction between SH3 domain (residues Y223, W251, and Y268) and the SH2-kinase linker (residues P385 and T387) stabilizes the SH3 domain onto the distal side of the kinase domain (opposite the activation loop face). The salt bridge contact between SH2 (R307) and (D656) in the kinase domain stabilizes the SH2 domain on the distal side of the kinase domain C-lobe and mimics the SH2/C-terminal tail phosphotyrosine interaction of the SRC kinases. L390 in the SH2-kinase linker and W421 and Y461 in the kinase domain N-lobe form the hydrophobic stack. The PH domain residues involved in the autoinhibitory pose are Y42 and D43 while the structural elements in the kinase domain reported to mediate this interaction include the αC-helix, the activation loop (A-loop), the αE–αF loop, and the αG-helix.

Autoinhibitory domains (AIDs)

3-133 (PH domain) EV

Target domain

402-655 (Kinase domain)

Relief mechanism

Assay

Structural analysis

214-274 (SH3 domain) EV

Target domain

402-655 (Kinase domain)

Relief mechanism

Assay

Structural analysis

383-387 (SH2-kinase linker) EV

Target domain

402-655 (Kinase domain)

Relief mechanism

Assay

Structural analysis

281-377 (SH2 domain) EV

Target domain

402-655 (Kinase domain)

Relief mechanism

Assay

Structural analysis, Mutagenesis experiment

Accessory elements

538-562 (Activation loop from InterPro)

Target domain

402-655 (Kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

130 structures for Q06187

Entry ID Method Resolution Chain Position Source
1AWW NMR - A 212-275 PDB
1AWX NMR - A 212-275 PDB
1B55 X-ray 240 A A/B 2-170 PDB
1BTK X-ray 160 A A/B 2-170 PDB
1BWN X-ray 210 A A/B 2-170 PDB
1K2P X-ray 210 A A/B 397-659 PDB
1QLY NMR - A 216-273 PDB
2GE9 NMR - A 270-387 PDB
2Z0P X-ray 258 A A/B/C/D 2-170 PDB
3GEN X-ray 160 A A 382-659 PDB
3K54 X-ray 194 A A 382-659 PDB
3OCS X-ray 180 A A 393-656 PDB
3OCT X-ray 195 A A 393-656 PDB
3P08 X-ray 230 A A/B 393-659 PDB
3PIX X-ray 185 A A 387-659 PDB
3PIY X-ray 255 A A 387-659 PDB
3PIZ X-ray 221 A A 387-659 PDB
3PJ1 X-ray 200 A A 387-659 PDB
3PJ2 X-ray 175 A A 387-659 PDB
3PJ3 X-ray 185 A A 387-659 PDB
4NWM X-ray 203 A A/B 396-657 PDB
4OT5 X-ray 155 A A 378-659 PDB
4OT6 X-ray 205 A A 378-659 PDB
4OTF X-ray 195 A A 393-657 PDB
4OTQ X-ray 155 A A 378-659 PDB
4OTR X-ray 195 A A 378-659 PDB
4RFY X-ray 170 A A 378-659 PDB
4RFZ X-ray 117 A A 378-659 PDB
4RG0 X-ray 250 A A 378-659 PDB
4RX5 X-ray 136 A A 393-657 PDB
4YHF X-ray 220 A A/B 382-659 PDB
4Z3V X-ray 160 A A 382-659 PDB
4ZLY X-ray 165 A A 389-658 PDB
4ZLZ X-ray 200 A A 389-658 PDB
5BPY X-ray 231 A A/B 396-659 PDB
5BQ0 X-ray 157 A A 382-659 PDB
5FBN X-ray 180 A C/D 389-659 PDB
5FBO X-ray 189 A A 389-659 PDB
5J87 X-ray 159 A A/B/C/D 385-658 PDB
5JRS X-ray 197 A A/B 396-659 PDB
5KUP X-ray 139 A A 393-657 PDB
5P9F X-ray 171 A A 382-659 PDB
5P9G X-ray 175 A A 382-659 PDB
5P9H X-ray 195 A A 382-659 PDB
5P9I X-ray 111 A A 382-659 PDB
5P9J X-ray 108 A A 382-659 PDB
5P9K X-ray 128 A A 382-659 PDB
5P9L X-ray 125 A A 382-659 PDB
5P9M X-ray 141 A A 382-659 PDB
5T18 X-ray 150 A A 396-659 PDB
5U9D X-ray 133 A A 389-659 PDB
5VFI X-ray 159 A A 389-659 PDB
5VGO X-ray 162 A A 393-657 PDB
5XYZ X-ray 264 A A/B 393-656 PDB
5ZZ4 X-ray 290 A A/B/C/D/E/F 393-656 PDB
6AUA X-ray 166 A A 394-656 PDB
6AUB X-ray 165 A A 395-657 PDB
6BIK X-ray 190 A A 392-657 PDB
6BKE X-ray 195 A A 392-657 PDB
6BKH X-ray 179 A A 392-657 PDB
6BKW X-ray 150 A A 392-657 PDB
6BLN X-ray 130 A A 392-657 PDB
6DI0 X-ray 130 A A 389-659 PDB
6DI1 X-ray 110 A A 389-659 PDB
6DI3 X-ray 200 A A 389-659 PDB
6DI5 X-ray 142 A A 389-659 PDB
6DI9 X-ray 125 A A 389-659 PDB
6E4F X-ray 115 A A 387-659 PDB
6EP9 X-ray 201 A A 378-659 PDB
6HRP X-ray 112 A A 378-659 PDB
6HRT X-ray 136 A A 378-659 PDB
6HTF X-ray 210 A A 271-383 PDB
6J6M X-ray 125 A A 393-659 PDB
6N9P X-ray 223 A A 389-659 PDB
6NFH X-ray 140 A A 389-659 PDB
6NFI X-ray 241 A A 392-659 PDB
6NZM X-ray 172 A A/D 382-659 PDB
6O8I X-ray 142 A A 391-659 PDB
6OMU X-ray 141 A A 389-659 PDB
6S90 X-ray 182 A A/B 393-658 PDB
6TFP X-ray 200 A A/B/C/D/E 385-659 PDB
6TSE X-ray 141 A A/B 2-170 PDB
6TT2 X-ray 136 A A/B 2-170 PDB
6TUH X-ray 225 A A/B/C/D 2-170 PDB
6TVN X-ray 231 A A/B/C/D 2-170 PDB
6VXQ X-ray 140 A A 371-659 PDB
6W06 X-ray 155 A A 371-659 PDB
6W07 X-ray 151 A A 371-659 PDB
6W7O X-ray 217 A A/B 384-659 PDB
6W8I X-ray 380 A A/B/C 384-659 PDB
6X3N X-ray 195 A A 389-659 PDB
6X3O X-ray 190 A A/B 389-659 PDB
6X3P X-ray 134 A A 389-659 PDB
6XE4 X-ray 160 A A 393-657 PDB
6YYF X-ray 193 A A/B 2-170 PDB
6YYG X-ray 195 A A/B/C/D 2-170 PDB
6YYK X-ray 204 A A/B 2-170 PDB
7KXL X-ray 184 A A 392-659 PDB
7KXM X-ray 133 A A 389-659 PDB
7KXN X-ray 134 A A 393-659 PDB
7KXO X-ray 194 A A 393-659 PDB
7KXP X-ray 183 A A 389-659 PDB
7KXQ X-ray 138 A A 390-659 PDB
7L5O X-ray 121 A A 389-659 PDB
7L5P X-ray 214 A A/B 389-659 PDB
7LTY X-ray 169 A A 393-659 PDB
7LTZ X-ray 153 A A 393-659 PDB
7N4Q X-ray 150 A A 391-659 PDB
7N4R X-ray 162 A A 391-659 PDB
7N4S X-ray 205 A A 391-659 PDB
7N5O X-ray 125 A A 382-659 PDB
7N5R X-ray 155 A A 382-659 PDB
7N5X X-ray 160 A A 382-659 PDB
7N5Y X-ray 185 A A 382-659 PDB
7R60 X-ray 194 A A 389-659 PDB
7R61 X-ray 152 A A 390-659 PDB
7YC9 X-ray 140 A A 393-659 PDB
8DSO X-ray 233 A B 384-659 PDB
8E2M X-ray 190 A A 389-659 PDB
8EJB X-ray 158 A A 389-658 PDB
8FLG X-ray 220 A A 371-659 PDB
8FLH X-ray 155 A A 382-659 PDB
8FLL X-ray 150 A A 389-659 PDB
8FLN X-ray 133 A A 389-659 PDB
8FLV X-ray 130 A A 382-659 PDB
8GC7 X-ray 190 A A 389-658 PDB
8GC8 X-ray 175 A A 389-658 PDB
8U2D X-ray 195 A A 389-658 PDB
8U2E X-ray 190 A A 389-658 PDB
AF-Q06187-F1 Predicted AlphaFoldDB

419 variants for Q06187

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1927172387
RCV001070338
 1 M>I X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000806755
CA413939777
rs1603020228
VAR_006216
 11 L>P X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs782519139
RCV000990919
CA413939762
 12 K>N X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_006217 12 K>R XLA [UniProt] Yes UniProt
rs128620187
RCV000012097
CA255788
 13 R>* Variant assessed as Somatic; impact. X-linked agammaglobulinemia [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
VAR_006218
RCV000795113
CA413939745
rs1057520682
 14 S>F X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
CA255791
rs128620188
RCV000012098
RCV001027550
RCV002512977
 15 Q>* X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia Inherited Immunodeficiency Diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_008291 19 K>E XLA [UniProt] Yes UniProt
VAR_006219 25 F>S XLA [UniProt] Yes UniProt
VAR_008292 27 K>R XLA [UniProt] Yes UniProt
rs1927168815
VAR_008293
RCV001217971
 28 R>C X-linked agammaglobulinemia with growth hormone deficiency XLA; no effect on phosphorylation of GTF2I [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
RCV000583846
rs128620185
RCV000012101
VAR_006220
RCV000819061
CA255794
RCV000427660
 28 R>H Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA; moderate [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_006221 28 R>P XLA [UniProt] Yes UniProt
rs128620189
VAR_006222
RCV000012104
CA255799
 33 T>P X-linked agammaglobulinemia XLA; severe [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA10473233
rs141488935
RCV003163371
RCV001169612
RCV001169613
 34 V>M Variant assessed as Somatic; 0.0 impact. X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
dbSNP
gnomAD
VAR_008960 39 Y>S XLA [UniProt] Yes UniProt
VAR_008294
RCV000521066
RCV000707368
rs1555980875
CA413939330
 40 Y>C X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008295 40 Y>N XLA [UniProt] Yes UniProt
RCV000439020
CA16603157
rs1057520045
 41 E>K Agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001334183
rs1927166327
 45 E>missing X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
rs1555980799
RCV000583173
 54 G>missing Autosomal recessive agammaglobulinemia 1 [ClinVar] Yes ClinVar
dbSNP
RCV000589435
rs1555980796
CA413939060
 55 S>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000809057
rs1603019607
CA413939064
 55 S>P X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1927146374
RCV001235566
 56 I>T X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000810868
rs1603019594
RCV000780070
 60 K>missing X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
VAR_008296 61 I>N XLA [UniProt] Yes UniProt
VAR_008297 64 V>D XLA [UniProt] Yes UniProt
VAR_006223 64 V>F XLA [UniProt] Yes UniProt
RCV000317789
rs886041148
RCV000811748
RCV000781189
 72 N>missing X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
rs1555980789
CA413938762
RCV001203879
 72 N>K X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000012105
rs864321660
 76 E>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
CA413938666
rs1603019535
RCV000814965
 78 Q>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1603017538
RCV000795926
 90 E>missing X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
CA413938098
RCV000703916
rs1569295678
 93 S>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001250190
rs1927036604
 100 Y>* X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
VAR_006224 103 Q>QSVFSSTR XLA [UniProt] Yes UniProt
RCV001218381
rs1926977202
 107 D>Y X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
rs1409835623
RCV001211890
 112 Y>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
rs1926977049
RCV001041939
 112 Y>H X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_006225
CA255801
RCV000012109
rs128621190
 113 V>D X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008298 115 S>F XLA [UniProt] Yes UniProt
VAR_008299 117 T>P XLA [UniProt] Yes UniProt
RCV001307025
rs1926975244
 123 R>W X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000584393
rs1555980049
CA413936992
RCV000586376
 124 W>* Autosomal recessive agammaglobulinemia 1 Variant assessed as Somatic; impact. X-linked agammaglobulinemia [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
VAR_008300 127 Q>H XLA [UniProt] Yes UniProt
RCV000012110
rs864321664
 130 N>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
rs1555978891
RCV000582068
CA413935548
 145 C>* Autosomal recessive agammaglobulinemia 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001046699
rs1926711302
 146 F>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008301 154 C>S XLA [UniProt] Yes UniProt
rs1926710166
RCV001212558
 155 C>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008302 155 C>G XLA [UniProt] Yes UniProt
VAR_008303 155 C>R XLA [UniProt] Yes UniProt
RCV000698891
rs193922128
RCV000029413
 158 T>missing X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV000798950
CA413935074
rs1603010344
 165 C>R X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1926708861
RCV001230353
 166 Q>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008304 184 T>P XLA [UniProt] Yes UniProt
RCV000012111
rs864321665
RCV000691136
 187 P>missing X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
rs1603009890
RCV000824441
 190 P>missing X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
rs1555978783
RCV000823320
CA413934031
 193 E>Q X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA413934001
rs1555978779
RCV000696204
 194 E>K X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000012112
rs1569293253
 197 I>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV000356123
RCV000515112
RCV000308563
rs35877704
CA10473139
RCV002494857
RCV001085757
 205 E>D X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000012148
rs1569292818
 214 S>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV000012113
rs1569292813
 218 K>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV000780073
rs1569292810
 219 V>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
rs1603008449
RCV000806263
 227 P>missing X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000556448
CA10473132
rs147036606
 236 R>Q X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA255803
rs128621191
RCV000012114
 240 E>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002272281
CA10473130
rs141590686
RCV000534777
 240 E>D X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000990918
rs1603008381
 241 Y>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV000727543
rs1569292774
 243 I>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
CA413931669
RCV000694949
rs1468544899
 246 E>Q X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000799583
rs1603008349
CA413931608
 252 W>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs128621192
RCV000012115
CA255806
 252 W>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001269823
RCV000583310
CA255809
RCV001221640
rs128621193
RCV000012116
 255 R>* Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1603008329
CA413931575
COSM1715293
RCV001027552
 255 R>Q skin Inherited Immunodeficiency Diseases [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
VAR_006226 260 Q>del XLA; severe [UniProt] Yes UniProt
rs1555978412
RCV000589843
 267 N>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV001192718
rs1926614700
RCV001546212
RCV001244642
 269 V>missing X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
rs868983143
RCV001822089
 277 E>* X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
CA413930722
rs1603007888
RCV001027551
 279 Y>* Inherited Immunodeficiency Diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA413930070
RCV001001062
RCV000657848
rs1555978277
RCV000690161
VAR_008305
RCV001192716
COSM199617
RCV000584540
 288 R>Q Autosomal recessive agammaglobulinemia 1 large_intestine Variant assessed as Somatic; impact. X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA [ClinVar, Cosmic, NCI-TCGA, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV001384086
RCV000012119
CA255812
VAR_006227
RCV001701564
rs128621194
RCV000768159
 288 R>W X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1926588297
RCV001215240
 289 S>R X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_006228
RCV001245402
rs1926588125
 295 L>P X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
VAR_006230 302 G>E XLA [UniProt] Yes UniProt
VAR_008306 302 G>R XLA [UniProt] Yes UniProt
VAR_006229 302 G>del XLA [UniProt] Yes UniProt
CA255814
RCV000012120
VAR_006231
rs128621195
 307 R>G X-linked agammaglobulinemia XLA; loss of activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008307 307 R>T XLA [UniProt] Yes UniProt
VAR_008308 308 D>E XLA [UniProt] Yes UniProt
rs1926563146
RCV001326510
 312 A>P X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
CA413929005
rs1386621585
RCV000549821
 314 K>R X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000582158
CA413928873
rs1555978197
 318 S>F Autosomal recessive agammaglobulinemia 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_008309 319 V>A XLA; moderate [UniProt] Yes UniProt
RCV001236999
rs1926556967
 327 P>L X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
CA260199
RCV000029418
rs193922133
RCV002513238
 333 H>R X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_006232
rs128621196
CA255816
RCV000012121
 334 Y>S X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000757938
rs1569292214
CA413928400
 335 V>D X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA413928106
rs1603006298
RCV000803305
 347 A>P X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1555978130
RCV000546608
CA413927847
 357 E>K Variant assessed as Somatic; impact. X-linked agammaglobulinemia with growth hormone deficiency [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
VAR_006233 358 L>F XLA [UniProt] Yes UniProt
VAR_006234
RCV000012099
CA121429
rs28935478
 361 Y>C X-linked agammaglobulinemia XLA; mild [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_006235 362 H>Q XLA [UniProt] Yes UniProt
VAR_006236 364 H>P XLA [UniProt] Yes UniProt
VAR_006237 365 N>Y XLA [UniProt] Yes UniProt
VAR_008310 366 S>F XLA [UniProt] Yes UniProt
VAR_008311 369 L>F XLA [UniProt] Yes UniProt
VAR_006238 370 I>M XLA [UniProt] Yes UniProt
VAR_008312 372 R>G XLA [UniProt] Yes UniProt
CA413926551
RCV000583457
rs1555978024
 372 R>S Autosomal recessive agammaglobulinemia 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000012124
rs128621197
CA121431
 375 Y>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA413926351
RCV001055303
RCV000780074
rs1569292021
 380 Q>* X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs128621198
VAR_006239
CA255818
RCV000012126
 408 L>P X-linked agammaglobulinemia XLA; moderate [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1603005179
RCV000818098
CA413925377
 410 T>I X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_008313 414 G>R XLA [UniProt] Yes UniProt
TCGA novel
RCV001053798
rs1926503277
 417 K>* Variant assessed as Somatic; impact. X-linked agammaglobulinemia with growth hormone deficiency [NCI-TCGA, ClinVar] Yes NCI-TCGA
ClinVar
dbSNP
RCV001818852
VAR_006240
RCV000990917
RCV000914387
rs144079566
CA10473032
 418 Y>H X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1603005139
RCV000816130
CA413925190
 421 W>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs128621199
CA255820
RCV000012127
 425 Y>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_006241 429 I>N XLA [UniProt] Yes UniProt
CA255786
VAR_006242
RCV000012096
rs128620184
 430 K>E X-linked agammaglobulinemia XLA; loss of phosphorylation of GTF2I [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008314 430 K>R XLA [UniProt] Yes UniProt
CA413924901
RCV000813201
rs1603005073
 441 E>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001231977
rs782133950
CA10473028
 443 I>T Variant assessed as Somatic; 0.0 impact. X-linked agammaglobulinemia with growth hormone deficiency [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
NCI-TCGA
dbSNP
gnomAD
VAR_008315 445 E>D XLA [UniProt] Yes UniProt
CA10473018
RCV001064611
rs782457670
 453 S>F X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_008316 462 G>D XLA [UniProt] Yes UniProt
VAR_008317 462 G>V XLA [UniProt] Yes UniProt
RCV001035842
rs1926475663
 473 I>N X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_006243 476 Y>D XLA [UniProt] Yes UniProt
VAR_006244 477 M>R XLA [UniProt] Yes UniProt
VAR_074309
rs1057519825
RCV001269707
CA16602658
RCV000781188
RCV001243610
RCV000430045
 481 C>S X-linked agammaglobulinemia with growth hormone deficiency Breast neoplasm found in patients with chronic lymphocytic leukemia; unknown pathological significance; results in resistance to ibrutinib therapy; results in a protein that is reversibly inhibited by ibrutinib; disrupts the covalent binding between the enzyme and ibrutinib [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_074309
rs1057519826
RCV000420001
RCV000437223
RCV001269602
CA16602659
RCV001243609
 481 C>S X-linked agammaglobulinemia with growth hormone deficiency B-cell chronic lymphocytic leukemia Breast neoplasm found in patients with chronic lymphocytic leukemia; unknown pathological significance; results in resistance to ibrutinib therapy; results in a protein that is reversibly inhibited by ibrutinib; disrupts the covalent binding between the enzyme and ibrutinib [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001342007
rs1926474231
 482 L>P X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000029409
CA260186
rs193922124
 485 Y>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV002530824
rs782338603
RCV000581533
CA333096804
COSM199616
RCV002483556
 492 R>H Autosomal recessive agammaglobulinemia 1 Variant assessed as Somatic; 0.0 impact. large_intestine X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
CA413923755
RCV000637055
rs1555977807
 498 L>V X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_006245 502 C>F XLA [UniProt] Yes UniProt
VAR_006246
RCV000012128
rs41310709
CA255823
 502 C>W X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA260189
RCV000029410
rs193922125
 504 D>V X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA413923535
RCV000813278
rs1603004514
 505 V>F X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA255826
RCV000012129
rs128621200
VAR_006247
RCV001035091
 506 C>R X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_006248 506 C>Y XLA [UniProt] Yes UniProt
VAR_008318 508 A>D XLA [UniProt] Yes UniProt
VAR_008319 509 M>I XLA [UniProt] Yes UniProt
RCV003224377
RCV000692851
rs1569291644
CA413923414
 509 M>T X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_006249 509 M>V XLA [UniProt] Yes UniProt
VAR_008961 512 L>P XLA [UniProt] Yes UniProt
VAR_008962 512 L>Q XLA [UniProt] Yes UniProt
rs1603004481
CA413923127
RCV000799991
 516 Q>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_008320 518 L>R XLA [UniProt] Yes UniProt
RCV000582314
RCV000378493
RCV001061773
rs128621201
RCV000012130
CA255828
 520 R>* Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA413922963
RCV000637052
rs128621201
 520 R>G X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
COSM1464402
RCV000012131
RCV002482855
rs128621202
CA255831
RCV000637056
VAR_006251
 520 R>Q large_intestine Variant assessed as Somatic; impact. X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue [Cosmic, NCI-TCGA, ClinVar, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
VAR_008321 521 D>G XLA [UniProt] Yes UniProt
VAR_006252 521 D>H XLA; severe [UniProt] Yes UniProt
VAR_006253 521 D>N XLA; severe [UniProt] Yes UniProt
VAR_008322 523 A>E XLA [UniProt] Yes UniProt
RCV000267626
RCV002518801
rs886041149
CA10603524
 525 R>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000820887
rs886041149
CA413922482
VAR_008323
 525 R>G X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_006254 525 R>P XLA [UniProt] Yes UniProt
VAR_006255
RCV001204367
RCV000581245
RCV000012095
CA255784
rs128620183
RCV001267912
 525 R>Q Autosomal recessive agammaglobulinemia 1 Variant assessed as Somatic; impact. X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA; severe; disturbs ATP-binding [ClinVar, NCI-TCGA, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
VAR_006256
rs1569291237
CA413922411
RCV000700307
 526 N>K X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000582912
RCV000637053
rs1555977592
RCV002266990
RCV001008113
 527 C>missing Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
RCV001027547
rs1057520578
CA413922398
 527 C>Y Inherited Immunodeficiency Diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_008324 535 V>F XLA [UniProt] Yes UniProt
rs1603003195
CA413922108
RCV000805943
 536 K>E X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001810852
RCV000012134
rs128621203
VAR_006257
CA121434
 542 L>P X-linked agammaglobulinemia with growth hormone deficiency XLA; growth hormone deficiency [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008963 544 R>G XLA [UniProt] Yes UniProt
VAR_006258 544 R>K XLA [UniProt] Yes UniProt
rs193922126
RCV000029411
 558 K>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
VAR_008325 559 F>S XLA [UniProt] Yes UniProt
CA255853
VAR_006259
RCV000012147
rs104894770
RCV000485427
 562 R>P X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA255833
RCV000581337
RCV000012136
VAR_006260
RCV000816209
rs128621204
 562 R>W Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA413920557
rs1555977474
RCV000702940
 563 W>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA413920548
VAR_008326
rs1555977474
RCV000657909
 563 W>L XLA [UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000798428
rs1057521814
CA16608699
RCV000438550
 566 P>L X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA413920443
rs1057521814
RCV000801257
 566 P>R X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1603002421
CA413920454
RCV000824301
 566 P>S X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_006261 567 E>K XLA; severe [UniProt] Yes UniProt
rs1555977461
CA413920308
RCV000582836
 569 L>P Autosomal recessive agammaglobulinemia 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1926380106
RCV001192717
 571 Y>* X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
rs1603002367
RCV000801871
 572 S>missing X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001046707
rs1926379592
 574 F>L X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008964 578 S>Y XLA [UniProt] Yes UniProt
rs1603002341
RCV000798798
CA413919969
 581 W>C X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000012137
CA255835
rs128621205
VAR_006262
 581 W>R X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_006263 582 A>V XLA [UniProt] Yes UniProt
VAR_008327 583 F>S XLA [UniProt] Yes UniProt
rs1926378381
RCV001057292
 583 F>V X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001062111
rs1926361058
 584 G>E X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
rs1603001822
VAR_006264
CA413919581
RCV000810388
 587 M>L X-linked agammaglobulinemia with growth hormone deficiency XLA; mild [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000799270
CA413919551
RCV000990916
rs1603001805
 588 W>* X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001209246
rs1926358858
 589 E>* X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008328 589 E>D XLA [UniProt] Yes UniProt
CA255837
rs128621206
RCV000012138
VAR_006265
 589 E>G X-linked agammaglobulinemia XLA; moderate; interferes with substrate binding [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008965 589 E>K XLA [UniProt] Yes UniProt
RCV000012139
CA255839
rs128621207
 591 Y>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000819610
rs1603001783
VAR_006267
CA413919475
 592 S>P X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1926358194
RCV001298997
 592 S>Y X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_006268 594 G>E XLA; mild; interferes with substrate binding [UniProt] Yes UniProt
RCV000507546
RCV001857258
RCV003150249
rs1555977339
VAR_006269
CA413919441
 594 G>R X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000990915
rs1603001771
 596 M>missing X-linked agammaglobulinemia [ClinVar] Yes ClinVar
dbSNP
VAR_006270 598 Y>C XLA [UniProt] Yes UniProt
rs128621208
CA255842
VAR_006271
RCV000012140
 607 A>D X-linked agammaglobulinemia XLA; mild [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs128621209
CA255844
RCV000012141
VAR_006272
 613 G>D X-linked agammaglobulinemia XLA; mild; interferes with substrate binding and/or domain interactions [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA413918882
RCV000812568
RCV000788744
rs1603001680
 615 R>C X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001061157
rs1901797830
 615 R>L X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008330 619 P>A XLA [UniProt] Yes UniProt
VAR_006273 619 P>S XLA [UniProt] Yes UniProt
VAR_008331 619 P>T XLA [UniProt] Yes UniProt
VAR_008332 622 A>P XLA [UniProt] Yes UniProt
RCV003153903
RCV001042408
rs1926354581
 623 S>L X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
VAR_008333 626 V>G XLA [UniProt] Yes UniProt
rs128621210
RCV000012142
CA255846
VAR_006275
 630 M>K X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001194091
rs128621210
VAR_008334
 630 M>T X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
VAR_006276 633 C>Y XLA [UniProt] Yes UniProt
RCV001057527
rs1926352588
 634 W>S X-linked agammaglobulinemia with growth hormone deficiency [ClinVar] Yes ClinVar
dbSNP
CA255848
RCV000012143
rs128622211
 636 E>* X-linked agammaglobulinemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_006277 641 R>C XLA [UniProt] Yes UniProt
VAR_006278
RCV001386308
RCV001269826
rs1926220192
 641 R>H X-linked agammaglobulinemia with growth hormone deficiency XLA; severe [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
VAR_008335
rs1926219727
RCV001352189
 644 F>L X-linked agammaglobulinemia with growth hormone deficiency XLA [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
VAR_006279 644 F>S XLA [UniProt] Yes UniProt
VAR_006280 647 L>P XLA [UniProt] Yes UniProt
rs1555976766
RCV000584073
 649 S>missing Autosomal recessive agammaglobulinemia 1 [ClinVar] Yes ClinVar
dbSNP
rs128622212
CA255851
VAR_006281
RCV000012145
 652 L>P X-linked agammaglobulinemia XLA [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA10473242
rs368549990
 3 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1320514510
CA413939839
 6 L>M No ClinGen
TOPMed
gnomAD
rs868924845
CA413939758
 13 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1057520682
CA413939747
 14 S>C No ClinGen
gnomAD
RCV000425259
CA16608230
rs1057520682
 14 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV000627328
rs1555980888
CA413939723
 16 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 43 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555980871
CA413939231
 46 R>H No ClinGen
gnomAD
CA413939125
rs1555980800
 51 S>T No ClinGen
gnomAD
CA413939033
rs1555980795
 57 D>H No ClinGen
gnomAD
rs782007035
CA10473223
 64 V>I No ClinGen
ExAC
rs1555980793
CA413938875
 65 E>A No ClinGen
gnomAD
CA413938894
rs1603019578
 65 E>K No ClinGen
Ensembl
CA413938837
rs1346397922
 68 V>F No ClinGen
TOPMed
rs886041148 72 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs930891306
CA333100574
 75 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA413938641
rs1555980788
 79 I>T No ClinGen
gnomAD
rs1400251682
CA413938618
 80 P>L No ClinGen
TOPMed
rs782406513
CA10473222
 80 P>S No ClinGen
ExAC
gnomAD
CA10473210
rs56035945
 82 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA10473209
rs56035945
VAR_041676
 82 R>K No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1450054904
CA413938093
 94 I>V No ClinGen
TOPMed
TCGA novel 96 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1317277241
CA413938078
 96 E>V No ClinGen
TOPMed
rs1927036921
RCV001175466
 98 F>L No ClinVar
dbSNP
CA413938053
rs1555980318
 99 P>L No ClinGen
gnomAD
rs886039657
CA10588733
RCV000255735
 103 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
CA10473192
rs782626687
 105 V>A No ClinGen
1000Genomes
ExAC
CA413937382
rs1603016483
 105 V>I No ClinGen
Ensembl
CA413937184
rs868960790
 114 F>S No ClinGen
Ensembl
TCGA novel 117 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782820524
CA10473189
 117 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1926975943
RCV001269533
 118 E>missing No ClinVar
dbSNP
rs1555980053
RCV000523318
CA413937061
 120 L>P No ClinGen
ClinVar
Ensembl
dbSNP
CA10473186
COSM3708353
rs782731222
 123 R>Q Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA333098952
rs7474275
 124 W>G No ClinGen
Ensembl
CA16608657
rs7474275
RCV000427390
 124 W>R No ClinGen
ClinVar
Ensembl
dbSNP
COSM1111855
CA413936838
rs1555980039
 131 V>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1342391224
CA413936038
 133 R>Q No ClinGen
TOPMed
rs141567416
CA10473177
 133 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782369365
CA10473176
 137 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 138 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1257663205
CA413935830
 138 L>P No ClinGen
TOPMed
rs1555978887
CA413935477
 148 I>N No ClinGen
gnomAD
CA10473173
rs782559289
 153 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10603398
RCV000386074
rs886041473
 157 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
rs1555978875
CA413935158
 160 K>R No ClinGen
gnomAD
CA10473170
COSM3800301
rs371085740
 161 N>T Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV001002076
rs1603010333
 162 A>missing No ClinVar
dbSNP
CA333097613
rs782454588
 163 M>V No ClinGen
Ensembl
TCGA novel 166 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781846859
CA10473169
 167 I>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 168 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413934874
rs1603010302
 170 N>S No ClinGen
Ensembl
rs1603009931
CA413934423
 179 S>R No ClinGen
Ensembl
CA10473153
rs782505635
 179 S>T No ClinGen
ExAC
gnomAD
rs781881335
CA10473152
 181 H>R No ClinGen
ExAC
gnomAD
TCGA novel 187 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333097559
rs988577951
 189 P>L No ClinGen
Ensembl
VAR_041677 190 P>K a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions [UniProt] No UniProt
TCGA novel 190 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555978785
CA413934058
 191 T>M No ClinGen
gnomAD
TCGA novel 193 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782705244
CA10473142
 198 L>F No ClinGen
ExAC
CA10473143
rs782038889
 198 L>S No ClinGen
ExAC
gnomAD
rs1203847802
CA413932424
 201 P>S No ClinGen
TOPMed
rs375531341
CA10473141
 203 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138352992
CA10473137
 209 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1555978503
CA413932300
 210 P>T No ClinGen
gnomAD
CA413932278
rs1555978501
 211 V>A No ClinGen
gnomAD
CA413932235
rs1603008525
 213 T>I No ClinGen
Ensembl
CA413932049
rs1555978492
 221 A>S No ClinGen
gnomAD
TCGA novel 221 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1057520612
CA16608652
RCV000424404
 223 Y>* No ClinGen
ClinVar
Ensembl
dbSNP
CA413931912
rs1181216823
 227 P>T No ClinGen
TOPMed
TCGA novel 230 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10473133
rs782467781
 236 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA413931731
rs1555978486
 238 G>C No ClinGen
gnomAD
CA333097404
rs782004234
 239 D>E No ClinGen
TOPMed
gnomAD
CA413931719
rs1555978480
 239 D>Y No ClinGen
gnomAD
TCGA novel 240 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555978473
CA413931662
 247 S>R No ClinGen
gnomAD
rs1300463468
CA413931560
 256 D>N No ClinGen
TOPMed
TCGA novel 256 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781889506
CA10473129
 258 N>D No ClinGen
ExAC
gnomAD
CA413931176
rs1360098311
 266 S>N No ClinGen
TOPMed
gnomAD
TCGA novel 271 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413930942
rs782264410
 272 A>G No ClinGen
ExAC
CA10473115
rs782264410
 272 A>V No ClinGen
ExAC
CA413930829
rs868983143
 277 E>K No ClinGen
Ensembl
rs1569292650
CA413930709
 280 E>K No ClinGen
Ensembl
rs1555978282
CA413930282
 283 S>A No ClinGen
gnomAD
CA10473101
rs782095364
 285 H>P No ClinGen
ExAC
gnomAD
TCGA novel 292 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM456332
rs1603007166
CA413929608
 298 E>K breast [Cosmic] No ClinGen
cosmic curated
Ensembl
RCV000481731
rs1064794285
 303 G>missing No ClinVar
dbSNP
TCGA novel 315 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413928858
rs1163690770
 319 V>M No ClinGen
TOPMed
CA413928768
rs1555978192
 323 S>P No ClinGen
gnomAD
CA10473074
rs781947474
 326 D>E No ClinGen
ExAC
gnomAD
CA413928565
rs1555978153
 329 G>V No ClinGen
gnomAD
CA413928509
rs1245476951
 331 I>T No ClinGen
TOPMed
CA413928497
rs1603006348
 332 R>C No ClinGen
Ensembl
CA333097138
rs918787974
COSM259678
 332 R>H large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs782303652
CA10473072
 340 P>S No ClinGen
ExAC
gnomAD
CA413927932
rs1555978139
 353 S>N No ClinGen
gnomAD
CA16043167
RCV000413395
rs1057517709
 355 I>N No ClinGen
ClinVar
Ensembl
dbSNP
rs1057517710
CA16043191
RCV000414003
 368 G>E No ClinGen
ClinVar
Ensembl
dbSNP
RCV001311090
rs1926524710
 369 L>P No ClinVar
dbSNP
TCGA novel 370 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413926636
rs1603005636
 370 I>V No ClinGen
Ensembl
TCGA novel 377 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413926421
rs1321990671
 378 S>P No ClinGen
TOPMed
gnomAD
CA413926177
rs1555978017
 384 A>P No ClinGen
gnomAD
rs782516380
CA10473047
 388 A>T No ClinGen
ExAC
rs782429199 392 Y>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA413925950
rs1569291997
 393 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1064796836
RCV000485824
CA16621157
 395 W>* No ClinGen
ClinVar
Ensembl
dbSNP
CA413925501
rs1169941199
 403 T>I No ClinGen
TOPMed
TCGA novel 404 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413925223
rs1305768982
 419 G>E No ClinGen
TOPMed
TCGA novel 420 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782813365
CA10473030
 426 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1329288057
CA413925033
 432 I>T No ClinGen
TOPMed
CA10473029
rs782253327
 435 G>V No ClinGen
ExAC
TOPMed
gnomAD
RCV001269822
rs1926476996
 461 Y>missing No ClinVar
dbSNP
rs1411825573
CA413924413
 462 G>A No ClinGen
TOPMed
rs1289445245
CA413924398
 463 V>A No ClinGen
TOPMed
CA10473017
rs781792640
 463 V>I No ClinGen
ExAC
gnomAD
rs372089648
CA10473016
 468 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413924325
rs1555977836
 468 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1555977832
CA413924162
 478 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1603004637
CA413924143
 479 N>K No ClinGen
Ensembl
rs1555977825
CA413924109
 481 C>W No ClinGen
gnomAD
TCGA novel 484 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868978699
COSM1111834
CA413923959
 490 R>C large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1555977811
CA413923783
RCV000598965
 497 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
rs1555977810
CA413923774
 497 Q>H No ClinGen
gnomAD
TCGA novel 499 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413923692
rs1281310544
 501 M>V No ClinGen
TOPMed
rs1313261352
CA413923636
 502 C>Y No ClinGen
TOPMed
rs781869026
CA10473014
 513 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 514 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1057520578
RCV000435923
CA16608702
 527 C>S No ClinGen
ClinVar
Ensembl
dbSNP
CA413922288
rs782740486
 531 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs782740486
CA10472996
 531 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 534 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413922200
rs1555977587
 534 V>I No ClinGen
gnomAD
CA333096570
rs1033374210
 541 G>S No ClinGen
Ensembl
rs1555977496
CA517531335
 544 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1183974287
CA413921644
 545 Y>H No ClinGen
TOPMed
rs370902664
CA10472988
 555 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413921392
rs1163361343
 556 G>S No ClinGen
TOPMed
RCV001269825
rs1926380816
 567 E>* No ClinVar
dbSNP
rs146681416
CA413920389
RCV000788437
 567 E>D No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 568 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868981664
CA413920270
 570 M>I No ClinGen
Ensembl
TCGA novel 580 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781985424
CA10472968
 585 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1064796809
RCV000486283
CA16621156
 586 L>S No ClinGen
ClinVar
Ensembl
dbSNP
RCV000255772
rs886039321
CA10588731
 587 M>T No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 590 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000498434
rs1555977341
 591 Y>missing No ClinVar
dbSNP
rs868967798
CA413919351
 597 P>S No ClinGen
Ensembl
CA10472967
rs782389631
 601 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1057521116
CA16608229
RCV000432214
 602 T>I No ClinGen
ClinVar
Ensembl
dbSNP
rs1555977335
CA413919155
 604 S>N No ClinGen
gnomAD
rs781930404
CA10472965
RCV000437470
 608 E>G No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA413918962
rs1555977331
 611 A>S No ClinGen
gnomAD
TCGA novel 617 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413918826
rs1195552720
 617 Y>F No ClinGen
TOPMed
CA413918821
rs1569290824
RCV000781190
 618 R>G No ClinGen
ClinVar
Ensembl
dbSNP
CA10472964
rs782244933
 618 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA413918625
rs1193720975
CA413918623
 626 V>L No ClinGen
TOPMed
rs3027646
CA10472962
 628 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs3027646
CA413918561
 628 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA413918529
rs1555977326
 629 I>V No ClinGen
gnomAD
VAR_006274 630 M>I No UniProt
RCV000484290
CA16621155
rs1064794904
 630 M>L No ClinGen
ClinVar
Ensembl
dbSNP
rs1135363
CA333096410
 633 C>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10472951
rs781952338
 639 D>E No ClinGen
ExAC
gnomAD
rs41300892
CA333095912
 642 P>L No ClinGen
Ensembl
TCGA novel 643 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555976770
CA413917675
 645 K>R No ClinGen
gnomAD
CA413917612
rs1555976762
 649 S>N No ClinGen
gnomAD
CA413917552
rs1555976755
 654 V>I No ClinGen
gnomAD
CA10472950
rs782709592
 655 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413917505
rs1602998477
 657 E>Q No ClinGen
Ensembl
TCGA novel 658 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1427736452
CA413917462
 659 S>F No ClinGen
TOPMed
RCV000489889
rs1085307927
CA413917454
 660 S>G No ClinGen
ClinVar
Ensembl
dbSNP
rs1085307927
CA413917457
 660 S>R No ClinGen
Ensembl

2 associated diseases with Q06187

[MIM: 300755]: X-linked agammaglobulinemia (XLA)

Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 307200]: Growth hormone deficiency, isolated, 3, with agammaglobulinemia (IGHD3)

An X-linked recessive disorder characterized by growth hormone deficiency, short stature, delayed bone age, agammaglobulinemia with markedly reduced numbers of B cells, and good response to treatment with growth hormone. . Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID
  • Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • An X-linked recessive disorder characterized by growth hormone deficiency, short stature, delayed bone age, agammaglobulinemia with markedly reduced numbers of B cells, and good response to treatment with growth hormone. . Note=The disease may be caused by variants affecting the gene represented in this entry.

6 regional properties for Q06187

Type Name Position InterPro Accession
domain Protein kinase domain 34 - 285 IPR000719
active_site Serine/threonine-protein kinase, active site 152 - 164 IPR008271
domain Carbon catabolite-derepressing protein kinase, ubiquitin-associated domain 305 - 351 IPR013896
domain Ubiquitin-associated domain 316 - 345 IPR015940
binding_site Protein kinase, ATP binding site 40 - 63 IPR017441
domain AMPK, C-terminal adenylate sensor domain 451 - 573 IPR032270

Functions

Description
EC Number 2.7.10.2 Protein-tyrosine kinases
Subcellular Localization
  • Cytoplasm
  • Cell membrane ; Peripheral membrane protein
  • Nucleus
  • Membrane raft
  • In steady state, BTK is predominantly cytosolic
  • Following B-cell receptor (BCR) engagement by antigen, translocates to the plasma membrane through its PH domain
  • Plasma membrane localization is a critical step in the activation of BTK
  • A fraction of BTK also shuttles between the nucleus and the cytoplasm, and nuclear export is mediated by the nuclear export receptor CRM1
PANTHER Family PTHR24418 TYROSINE-PROTEIN KINASE
PANTHER Subfamily PTHR24418:SF92 TYROSINE-PROTEIN KINASE BTK
PANTHER Protein Class non-receptor tyrosine protein kinase
PANTHER Pathway Category B cell activation
Btk

7 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

8 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.
non-membrane spanning protein tyrosine kinase activity Catalysis of the reaction
phosphatidylinositol-3,4,5-trisphosphate binding Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
phospholipase activator activity Binds to and increases the activity of a phospholipase, an enzyme that catalyzes of the hydrolysis of a glycerophospholipid.
phospholipase binding Binding to a phospholipase.
protein tyrosine kinase activity Catalysis of the reaction

40 GO annotations of biological process

Name Definition
adaptive immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
apoptotic signaling pathway The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.
B cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
B cell affinity maturation The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen.
B cell receptor signaling pathway The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
calcium-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
cell maturation The cellular developmental process, independent of morphogenetic (shape) change, that is required for a specific cell to attain its fully functional state.
cellular response to interleukin-7 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-7 stimulus.
cellular response to molecule of fungal origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of fungal origin such as chito-octamer oligosaccharide.
cellular response to reactive oxygen species Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals.
eosinophil homeostasis The process of regulating the proliferation and elimination of eosinophils such that the total number of eosinophils within a whole or part of an organism is stable over time in the absence of an outside stimulus.
Fc-epsilon receptor signaling pathway The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region.
histamine secretion by mast cell The regulated release of histamine by a mast cell or group of mast cells.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
mesoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue.
monocyte proliferation The expansion of a monocyte population by cell division.
MyD88-dependent toll-like receptor signaling pathway A toll-like receptor signaling pathway in which the MyD88 adaptor molecule mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.
negative regulation of B cell proliferation Any process that stops, prevents or reduces the rate or extent of B cell proliferation.
negative regulation of interleukin-10 production Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-10 production.
neutrophil homeostasis The process of regulating the proliferation and elimination of neutrophils such that the total number of neutrophils within a whole or part of an organism is stable over time in the absence of an outside stimulus.
peptidyl-tyrosine phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of B cell differentiation Any process that activates or increases the frequency, rate or extent of B cell differentiation.
positive regulation of B cell proliferation Any process that activates or increases the rate or extent of B cell proliferation.
positive regulation of immunoglobulin production Any process that activates or increases the frequency, rate, or extent of immunoglobulin production.
positive regulation of interleukin-17A production Any process that activates or increases the frequency, rate or extent of interleukin-17A production.
positive regulation of interleukin-6 production Any process that activates or increases the frequency, rate, or extent of interleukin-6 production.
positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
positive regulation of NLRP3 inflammasome complex assembly Any process that activates or increases the frequency, rate or extent of NLRP3 inflammasome complex assembly.
positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of synoviocyte proliferation Any process that activates or increases the frequency, rate or extent of synoviocyte proliferation.
positive regulation of tumor necrosis factor production Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
positive regulation of type I hypersensitivity Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response.
positive regulation of type III hypersensitivity Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response.
protein phosphorylation The process of introducing a phosphate group on to a protein.
proteoglycan catabolic process The chemical reactions and pathways resulting in the breakdown of proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans.
regulation of B cell apoptotic process Any process that modulates the frequency, rate, or extent of B cell apoptotic process.
regulation of B cell cytokine production Any process that modulates the frequency, rate, or extent of B cell cytokine production.
response to lipopolysaccharide Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
T cell receptor signaling pathway The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

86 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0JNB0 FYN Tyrosine-protein kinase Fyn Bos taurus (Bovine) SS
Q0VBZ0 CSK Tyrosine-protein kinase CSK Bos taurus (Bovine) SS
Q3ZC95 BTK Tyrosine-protein kinase Bos taurus (Bovine) EV SS
P42683 LCK Proto-oncogene tyrosine-protein kinase LCK Gallus gallus (Chicken) SS
P41239 CSK Tyrosine-protein kinase CSK Gallus gallus (Chicken) SS
P00523 SRC Proto-oncogene tyrosine-protein kinase Src Gallus gallus (Chicken) EV
Q02977 YRK Proto-oncogene tyrosine-protein kinase Yrk Gallus gallus (Chicken) SS
P09324 YES1 Tyrosine-protein kinase Yes Gallus gallus (Chicken) SS
Q05876 FYN Tyrosine-protein kinase Fyn Gallus gallus (Chicken) SS
Q75R65 JAK2 Tyrosine-protein kinase JAK2 Gallus gallus (Chicken) SS
Q8JH64 BTK Tyrosine-protein kinase BTK Gallus gallus (Chicken) SS
Q24592 hop Tyrosine-protein kinase hopscotch Drosophila melanogaster (Fruit fly) PR
Q9V9J3 Src42A Tyrosine-protein kinase Src42A Drosophila melanogaster (Fruit fly) SS
P00528 Src64B Tyrosine-protein kinase Src64B Drosophila melanogaster (Fruit fly) SS
P08630 Btk Tyrosine-protein kinase Btk Drosophila melanogaster (Fruit fly) SS
P23458 JAK1 Tyrosine-protein kinase JAK1 Homo sapiens (Human) SS
O60674 JAK2 Tyrosine-protein kinase JAK2 Homo sapiens (Human) EV
P52333 JAK3 Tyrosine-protein kinase JAK3 Homo sapiens (Human) SS
P29597 TYK2 Non-receptor tyrosine-protein kinase TYK2 Homo sapiens (Human) EV
P43405 SYK Tyrosine-protein kinase SYK Homo sapiens (Human) EV
P43403 ZAP70 Tyrosine-protein kinase ZAP-70 Homo sapiens (Human) EV
Q13882 PTK6 Protein-tyrosine kinase 6 Homo sapiens (Human) EV
P09769 FGR Tyrosine-protein kinase Fgr Homo sapiens (Human) SS
P07948 LYN Tyrosine-protein kinase Lyn Homo sapiens (Human) SS
P06241 FYN Tyrosine-protein kinase Fyn Homo sapiens (Human) SS
P12931 SRC Proto-oncogene tyrosine-protein kinase Src Homo sapiens (Human) EV
P06239 LCK Tyrosine-protein kinase Lck Homo sapiens (Human) EV
P51451 BLK Tyrosine-protein kinase Blk Homo sapiens (Human) SS
P08631 HCK Tyrosine-protein kinase HCK Homo sapiens (Human) EV
P07947 YES1 Tyrosine-protein kinase Yes Homo sapiens (Human) SS
P42685 FRK Tyrosine-protein kinase FRK Homo sapiens (Human) EV
Q08881 ITK Tyrosine-protein kinase ITK/TSK Homo sapiens (Human) EV
P51813 BMX Cytoplasmic tyrosine-protein kinase BMX Homo sapiens (Human) SS
P42680 TEC Tyrosine-protein kinase Tec Homo sapiens (Human) SS
P42679 MATK Megakaryocyte-associated tyrosine-protein kinase Homo sapiens (Human) SS
P41240 CSK Tyrosine-protein kinase CSK Homo sapiens (Human) SS
Q14289 PTK2B Protein-tyrosine kinase 2-beta Homo sapiens (Human) PR
Q05397 PTK2 Focal adhesion kinase 1 Homo sapiens (Human) EV
Q13470 TNK1 Non-receptor tyrosine-protein kinase TNK1 Homo sapiens (Human) PR
Q07912 TNK2 Activated CDC42 kinase 1 Homo sapiens (Human) EV
P16591 FER Tyrosine-protein kinase Fer Homo sapiens (Human) PR
Q6J9G0 STYK1 Tyrosine-protein kinase STYK1 Homo sapiens (Human) PR
P42684 ABL2 Tyrosine-protein kinase ABL2 Homo sapiens (Human) SS
P00519 ABL1 Tyrosine-protein kinase ABL1 Homo sapiens (Human) EV
Q9R117 Tyk2 Non-receptor tyrosine-protein kinase TYK2 Mus musculus (Mouse) SS
P08103 Hck Tyrosine-protein kinase HCK Mus musculus (Mouse) SS
P16277 Blk Tyrosine-protein kinase Blk Mus musculus (Mouse) SS
Q62270 Srms Tyrosine-protein kinase Srms Mus musculus (Mouse) SS
Q64434 Ptk6 Protein-tyrosine kinase 6 Mus musculus (Mouse) SS
P05480 Src Proto-oncogene tyrosine-protein kinase Src Mus musculus (Mouse) EV
P14234 Fgr Tyrosine-protein kinase Fgr Mus musculus (Mouse) SS
P41241 Csk Tyrosine-protein kinase CSK Mus musculus (Mouse) EV
P25911 Lyn Tyrosine-protein kinase Lyn Mus musculus (Mouse) EV
Q62137 Jak3 Tyrosine-protein kinase JAK3 Mus musculus (Mouse) SS
Q62120 Jak2 Tyrosine-protein kinase JAK2 Mus musculus (Mouse) EV
P06240 Lck Proto-oncogene tyrosine-protein kinase LCK Mus musculus (Mouse) SS
P24604 Tec Tyrosine-protein kinase Tec Mus musculus (Mouse) SS
Q04736 Yes1 Tyrosine-protein kinase Yes Mus musculus (Mouse) SS
P39688 Fyn Tyrosine-protein kinase Fyn Mus musculus (Mouse) SS
P52332 Jak1 Tyrosine-protein kinase JAK1 Mus musculus (Mouse) SS
Q03526 Itk Tyrosine-protein kinase ITK/TSK Mus musculus (Mouse) SS
P41242 Matk Megakaryocyte-associated tyrosine-protein kinase Mus musculus (Mouse) SS
Q922K9 Frk Tyrosine-protein kinase FRK Mus musculus (Mouse) SS
P35991 Btk Tyrosine-protein kinase BTK Mus musculus (Mouse) EV
A1Y2K1 FYN Tyrosine-protein kinase Fyn Sus scrofa (Pig) SS
O19064 JAK2 Tyrosine-protein kinase JAK2 Sus scrofa (Pig) SS
Q62662 Frk Tyrosine-protein kinase FRK Rattus norvegicus (Rat) SS
Q62844 Fyn Tyrosine-protein kinase Fyn Rattus norvegicus (Rat) SS
Q07014 Lyn Tyrosine-protein kinase Lyn Rattus norvegicus (Rat) SS
P50545 Hck Tyrosine-protein kinase HCK Rattus norvegicus (Rat) SS
Q9WUD9 Src Proto-oncogene tyrosine-protein kinase Src Rattus norvegicus (Rat) SS
Q01621 Lck Proto-oncogene tyrosine-protein kinase LCK Rattus norvegicus (Rat) SS
Q6P6U0 Fgr Tyrosine-protein kinase Fgr Rattus norvegicus (Rat) SS
Q62689 Jak2 Tyrosine-protein kinase JAK2 Rattus norvegicus (Rat) SS
Q63272 Jak3 Tyrosine-protein kinase JAK3 Rattus norvegicus (Rat) SS
P32577 Csk Tyrosine-protein kinase CSK Rattus norvegicus (Rat) SS
P41243 Matk Megakaryocyte-associated tyrosine-protein kinase Rattus norvegicus (Rat) SS
F1LM93 Yes1 Tyrosine-protein kinase Yes Rattus norvegicus (Rat) SS
O45539 src-2 Tyrosine protein-kinase src-2 Caenorhabditis elegans SS
G5ECJ6 csk-1 Tyrosine-protein kinase csk-1 Caenorhabditis elegans SS
G5EE56 src-1 Tyrosine protein-kinase src-1 Caenorhabditis elegans SS
A1A5H8 yes1 Tyrosine-protein kinase yes Danio rerio (Zebrafish) (Brachydanio rerio) SS
F1RDG9 fynb Tyrosine-protein kinase fynb Danio rerio (Zebrafish) (Brachydanio rerio) SS
O12990 jak1 Tyrosine-protein kinase JAK1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q1JPZ3 src Proto-oncogene tyrosine-protein kinase Src Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q6EWH2 fyna Tyrosine-protein kinase fyna Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MAAVILESIF LKRSQQKKKT SPLNFKKRLF LLTVHKLSYY EYDFERGRRG SKKGSIDVEK
70 80 90 100 110 120
ITCVETVVPE KNPPPERQIP RRGEESSEME QISIIERFPY PFQVVYDEGP LYVFSPTEEL
130 140 150 160 170 180
RKRWIHQLKN VIRYNSDLVQ KYHPCFWIDG QYLCCSQTAK NAMGCQILEN RNGSLKPGSS
190 200 210 220 230 240
HRKTKKPLPP TPEEDQILKK PLPPEPAAAP VSTSELKKVV ALYDYMPMNA NDLQLRKGDE
250 260 270 280 290 300
YFILEESNLP WWRARDKNGQ EGYIPSNYVT EAEDSIEMYE WYSKHMTRSQ AEQLLKQEGK
310 320 330 340 350 360
EGGFIVRDSS KAGKYTVSVF AKSTGDPQGV IRHYVVCSTP QSQYYLAEKH LFSTIPELIN
370 380 390 400 410 420
YHQHNSAGLI SRLKYPVSQQ NKNAPSTAGL GYGSWEIDPK DLTFLKELGT GQFGVVKYGK
430 440 450 460 470 480
WRGQYDVAIK MIKEGSMSED EFIEEAKVMM NLSHEKLVQL YGVCTKQRPI FIITEYMANG
490 500 510 520 530 540
CLLNYLREMR HRFQTQQLLE MCKDVCEAME YLESKQFLHR DLAARNCLVN DQGVVKVSDF
550 560 570 580 590 600
GLSRYVLDDE YTSSVGSKFP VRWSPPEVLM YSKFSSKSDI WAFGVLMWEI YSLGKMPYER
610 620 630 640 650
FTNSETAEHI AQGLRLYRPH LASEKVYTIM YSCWHEKADE RPTFKILLSN ILDVMDEES