P43405
EV
Gene name |
SYK |
Protein name |
Tyrosine-protein kinase SYK |
Names |
Spleen tyrosine kinase, p72-Syk |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6850 |
EC number |
|
Protein Class |
TYROSINE-PROTEIN KINASE (PTHR24418) |
Descriptions
Syk is non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Upon BCR crosslinking, Syk is recruited via its tandem SH2 domain to tyrosine-phosphorylated Ig-α/Ig-β constituting components of BCR, and intimately cooperates with the signaling subunits of the BCR and plays a central role in the amplification and diversification of BCR signals. Syk has two linkers called interdomains that regulate conformations of SYK: interdomain A (SH2-SH2), interdomain B (SH2-protein kinase). The interdomain interaction of A and B maintains the kinase domain inactive.
Autoinhibitory domains (AIDs)
Target domain |
371-631 (Protein kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Target domain |
371-631 (Protein kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
511-537 (Activation loop from InterPro)
Target domain |
371-631 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Kulathu Y et al. (2009) "Autoinhibition and adapter function of Syk", Immunological reviews, 232, 286-99
- Bond PJ et al. (2011) "Molecular mechanism of selective recruitment of Syk kinases by the membrane antigen-receptor complex", The Journal of biological chemistry, 286, 25872-81
- Hobbs HT et al. (2021) "Differences in the dynamics of the tandem-SH2 modules of the Syk and ZAP-70 tyrosine kinases", Protein science : a publication of the Protein Society, 30, 2373-2384
Autoinhibited structure
Activated structure
88 structures for P43405
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1A81 | X-ray | 300 A | A/C/E/G/I/K | 9-262 | PDB |
| 1CSY | NMR | - | A | 163-265 | PDB |
| 1CSZ | NMR | - | A | 163-265 | PDB |
| 1XBA | X-ray | 200 A | A | 356-635 | PDB |
| 1XBB | X-ray | 157 A | A | 356-635 | PDB |
| 1XBC | X-ray | 200 A | A | 356-635 | PDB |
| 3BUW | X-ray | 145 A | A/C | 317-329 | PDB |
| 3EMG | X-ray | 260 A | A | 349-635 | PDB |
| 3FQE | X-ray | 250 A | A | 356-635 | PDB |
| 3FQH | X-ray | 226 A | A/B | 356-635 | PDB |
| 3FQS | X-ray | 210 A | A | 356-635 | PDB |
| 3SRV | X-ray | 195 A | A/B | 360-635 | PDB |
| 3TUB | X-ray | 223 A | A | 343-635 | PDB |
| 3TUC | X-ray | 210 A | A | 343-635 | PDB |
| 3TUD | X-ray | 233 A | A | 343-635 | PDB |
| 3VF8 | X-ray | 208 A | A | 343-635 | PDB |
| 3VF9 | X-ray | 230 A | A | 343-635 | PDB |
| 4DFL | X-ray | 198 A | A | 363-635 | PDB |
| 4DFN | X-ray | 248 A | A | 363-635 | PDB |
| 4F4P | X-ray | 237 A | A | 365-635 | PDB |
| 4FL1 | X-ray | 179 A | A | 356-635 | PDB |
| 4FL2 | X-ray | 219 A | A | 1-635 | PDB |
| 4FL3 | X-ray | 190 A | A | 1-635 | PDB |
| 4FYN | X-ray | 232 A | A | 356-635 | PDB |
| 4FYO | X-ray | 140 A | A | 356-635 | PDB |
| 4FZ6 | X-ray | 185 A | A | 356-635 | PDB |
| 4FZ7 | X-ray | 175 A | A | 356-635 | PDB |
| 4GFG | X-ray | 235 A | A | 356-635 | PDB |
| 4I0R | X-ray | 210 A | A | 356-635 | PDB |
| 4I0S | X-ray | 198 A | A | 356-635 | PDB |
| 4I0T | X-ray | 170 A | A | 356-635 | PDB |
| 4PUZ | X-ray | 208 A | A/B | 356-635 | PDB |
| 4PV0 | X-ray | 200 A | A | 363-635 | PDB |
| 4PX6 | X-ray | 160 A | A | 356-635 | PDB |
| 4RSS | X-ray | 183 A | A | 356-635 | PDB |
| 4RX7 | X-ray | 180 A | A | 356-635 | PDB |
| 4RX8 | X-ray | 159 A | A | 356-635 | PDB |
| 4RX9 | X-ray | 175 A | A | 356-635 | PDB |
| 4WNM | X-ray | 250 A | A | 343-635 | PDB |
| 4XG2 | X-ray | 221 A | A | 356-635 | PDB |
| 4XG3 | X-ray | 230 A | A/B | 356-635 | PDB |
| 4XG4 | X-ray | 230 A | A | 356-635 | PDB |
| 4XG6 | X-ray | 240 A | A | 356-635 | PDB |
| 4XG7 | X-ray | 176 A | A | 356-635 | PDB |
| 4XG8 | X-ray | 240 A | A/C | 356-635 | PDB |
| 4XG9 | X-ray | 291 A | A/B | 356-635 | PDB |
| 4YJO | X-ray | 160 A | A | 355-635 | PDB |
| 4YJP | X-ray | 183 A | A | 355-635 | PDB |
| 4YJQ | X-ray | 134 A | A | 355-635 | PDB |
| 4YJR | X-ray | 132 A | A | 355-635 | PDB |
| 4YJS | X-ray | 222 A | A | 355-635 | PDB |
| 4YJT | X-ray | 152 A | A | 355-635 | PDB |
| 4YJU | X-ray | 167 A | A | 355-635 | PDB |
| 4YJV | X-ray | 165 A | A | 355-635 | PDB |
| 5C26 | X-ray | 195 A | A | 343-635 | PDB |
| 5C27 | X-ray | 215 A | A | 343-635 | PDB |
| 5CXH | X-ray | 190 A | A | 356-635 | PDB |
| 5CXZ | X-ray | 170 A | A | 356-635 | PDB |
| 5CY3 | X-ray | 176 A | A | 356-635 | PDB |
| 5GHV | X-ray | 280 A | A/B | 356-635 | PDB |
| 5LMA | X-ray | 143 A | A | 360-635 | PDB |
| 5LMB | X-ray | 195 A | A/B | 360-635 | PDB |
| 5T68 | X-ray | 293 A | A/B | 356-635 | PDB |
| 5TIU | X-ray | 149 A | A | 356-635 | PDB |
| 5TR6 | X-ray | 193 A | A | 356-635 | PDB |
| 5TT7 | X-ray | 177 A | A | 356-635 | PDB |
| 5Y5T | X-ray | 180 A | A | 356-635 | PDB |
| 5Y5U | X-ray | 214 A | A/B | 356-635 | PDB |
| 6HM6 | X-ray | 210 A | A | 360-635 | PDB |
| 6HM7 | X-ray | 164 A | A | 360-635 | PDB |
| 6SSB | X-ray | 208 A | A | 343-635 | PDB |
| 6VOV | X-ray | 195 A | A/B | 363-635 | PDB |
| 6ZC0 | X-ray | 197 A | A | 343-635 | PDB |
| 6ZCP | X-ray | 220 A | A | 343-635 | PDB |
| 6ZCQ | X-ray | 232 A | A | 343-635 | PDB |
| 6ZCR | X-ray | 173 A | A | 343-635 | PDB |
| 6ZCS | X-ray | 147 A | A | 343-635 | PDB |
| 6ZCU | X-ray | 173 A | A | 343-635 | PDB |
| 6ZCX | X-ray | 166 A | A | 343-635 | PDB |
| 6ZCY | X-ray | 181 A | A | 343-635 | PDB |
| 7Q5T | X-ray | 220 A | AAA/BBB/CCC/DDD/EEE/FFF | 6-269 | PDB |
| 7Q5U | X-ray | 240 A | AAA/BBB/CCC/DDD/EEE/FFF | 6-269 | PDB |
| 7Q5W | X-ray | 220 A | AAA/BBB/CCC/DDD/EEE/FFF | 6-269 | PDB |
| 7Q63 | X-ray | 190 A | AAA/BBB/CCC | 6-269 | PDB |
| 7SA7 | X-ray | 320 A | A/B/C/D/E/F | 6-269 | PDB |
| 8BI2 | X-ray | 151 A | A | 343-635 | PDB |
| 8X5K | X-ray | 180 A | A | 356-635 | PDB |
| AF-P43405-F1 | Predicted | AlphaFoldDB |
355 variants for P43405
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs796052158 CA204098 RCV000190148 |
52 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001880221 rs1828636794 RCV001527353 RCV001270908 |
550 | S>F | Immunodeficiency 82 with systemic inflammation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270911 RCV001527352 rs1828636794 |
550 | S>Y | Immunodeficiency 82 with systemic inflammation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA195306723 rs201301123 |
2 | A>T | No |
ClinGen Ensembl |
|
|
rs1233984148 CA373789396 |
3 | S>R | No |
ClinGen TOPMed |
|
|
CA373789409 rs1587850524 |
4 | S>N | No |
ClinGen Ensembl |
|
|
CA373789416 rs146743944 |
5 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146743944 CA5119107 |
5 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5119109 rs201350143 |
6 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758533611 CA5119108 |
6 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373789450 rs756007618 |
7 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752678021 CA5119110 |
7 | A>T | No |
ClinGen ExAC |
|
|
CA5119111 rs756007618 |
7 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195306764 rs199606629 |
10 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119113 rs199606629 |
10 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373789520 rs1373206128 |
12 | H>Q | No |
ClinGen TOPMed |
|
|
CA373789556 rs1449828824 |
15 | F>L | No |
ClinGen TOPMed |
|
|
CA195306790 rs1021305539 |
16 | F>L | No |
ClinGen Ensembl |
|
|
CA5119115 rs752280694 |
18 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745568763 CA5119116 |
19 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774928285 CA5119118 |
20 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758018137 CA195306820 |
21 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758018137 CA5119119 |
21 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5119120 rs140421546 |
22 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5119121 rs140421546 |
22 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564088424 CA373789674 |
22 | R>W | No |
ClinGen Ensembl |
|
|
CA195306842 rs752718360 |
25 | A>T | No |
ClinGen Ensembl |
|
|
CA373789805 rs1276343036 |
29 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5119123 rs765749869 |
30 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5119127 rs766412303 |
33 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119126 rs766412303 |
33 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119125 rs201364101 |
33 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373789892 rs1174684222 |
34 | M>I | No |
ClinGen gnomAD |
|
|
CA5119128 rs756261006 |
34 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA373789902 rs1277403436 |
35 | S>N | No |
ClinGen TOPMed |
|
|
rs1434639334 CA373789939 |
39 | Y>H | No |
ClinGen gnomAD |
|
|
rs1352390840 CA373789951 |
40 | L>F | No |
ClinGen gnomAD |
|
|
CA5119129 rs764046624 |
40 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA373789960 rs1408106520 COSM1132440 |
42 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1408106520 CA373789962 |
42 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1235073402 CA373789979 |
45 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
VAR_033838 rs16906862 CA5119132 |
45 | R>H | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs16906862 CA5119133 |
45 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs16906862 CA195306966 |
45 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA373789986 rs1205743055 |
46 | N>S | No |
ClinGen gnomAD |
|
|
CA5119136 rs746533634 |
50 | G>V | No |
ClinGen ExAC |
|
|
CA373790022 COSM1228114 rs796052158 COSM1228113 |
52 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA373790025 rs1434557403 |
52 | A>V | No |
ClinGen gnomAD |
|
|
CA5119139 rs200078199 |
55 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763174175 CA5119142 |
58 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119144 rs774446027 |
62 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373790093 rs1388733927 |
63 | H>R | No |
ClinGen gnomAD |
|
|
rs1483594474 CA373790108 |
65 | T>A | No |
ClinGen TOPMed |
|
|
CA5119146 rs149603234 |
65 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757250931 CA5119148 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750210254 CA5119150 |
68 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119149 rs764942726 |
68 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA373790135 rs1265500809 |
69 | E>D | No |
ClinGen gnomAD |
|
|
CA5119151 rs146786995 |
71 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200175081 CA5119152 COSM1701306 COSM1701305 |
72 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs901058142 CA195307120 |
73 | T>P | No |
ClinGen Ensembl |
|
|
rs570398843 CA5119154 |
75 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748600980 CA5119156 |
77 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119158 rs773659676 |
78 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749642263 CA5119159 |
80 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771362366 CA5119160 |
81 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs201374653 CA5119161 |
81 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771362366 CA195307173 |
81 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA195307180 rs199818587 |
84 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs536147934 CA5119162 |
84 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201455170 CA5119164 |
86 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373790233 rs1422011734 |
86 | A>V | No |
ClinGen gnomAD |
|
|
CA373790241 rs1587851378 |
87 | D>A | No |
ClinGen Ensembl |
|
|
CA5119165 rs201177148 |
87 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373790252 rs1234793623 |
88 | L>I | No |
ClinGen TOPMed |
|
|
rs78791900 CA195307249 |
88 | L>P | No |
ClinGen Ensembl |
|
|
CA5119166 rs541525343 |
90 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373790300 rs199646361 |
90 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762634618 CA5119168 |
96 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA373790437 rs1216031257 |
97 | D>N | No |
ClinGen TOPMed |
|
|
CA5119169 rs200223184 |
97 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1257507163 CA373790504 |
100 | V>A | No |
ClinGen gnomAD |
|
|
CA195307305 rs960287440 |
101 | C>R | No |
ClinGen Ensembl |
|
|
rs754686051 CA5119172 |
101 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1417347093 CA373790558 |
102 | L>R | No |
ClinGen gnomAD |
|
|
rs752276138 CA5119174 |
104 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM360520 CA195307336 rs200453337 |
104 | K>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA373790606 COSM346151 rs1452821050 |
105 | K>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756646754 CA5119176 |
109 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs756646754 CA5119175 |
109 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1303320502 CA373790706 |
109 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5119178 rs375028044 |
110 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5119177 rs202043759 |
110 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373790780 rs1229812218 |
113 | V>L | No |
ClinGen gnomAD |
|
|
CA373790779 rs1229812218 |
113 | V>M | No |
ClinGen gnomAD |
|
|
CA5119180 rs746010260 |
114 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA373790945 rs1331405227 |
121 | E>D | No |
ClinGen TOPMed |
|
|
rs962420195 CA195307414 |
122 | D>N | No |
ClinGen Ensembl |
|
|
CA373790969 rs1466207265 |
123 | L>M | No |
ClinGen gnomAD |
|
|
rs267602311 CA195307421 |
125 | E>K | No |
ClinGen Ensembl |
|
|
rs1325461300 CA373791051 |
128 | I>L | No |
ClinGen TOPMed |
|
|
rs775510434 CA5119182 |
130 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195307427 rs571653395 |
131 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1325361623 CA373791119 |
133 | K>Q | No |
ClinGen TOPMed |
|
|
rs765252567 CA5119183 |
134 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs865783333 CA195307434 |
136 | W>* | No |
ClinGen Ensembl |
|
|
rs773009850 CA5119185 |
137 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs200097669 CA5119184 |
137 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483994642 CA373791219 |
140 | G>R | No |
ClinGen gnomAD |
|
|
CA5119209 rs373730562 |
147 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373791266 rs373730562 |
147 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773317421 CA5119210 |
156 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5119211 rs763445736 |
159 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5119212 rs753399645 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5119213 rs757654631 |
161 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs867869952 CA195308496 |
164 | E>K | No |
ClinGen Ensembl |
|
|
CA373791451 rs1466942437 |
168 | W>S | No |
ClinGen gnomAD |
|
|
rs1379742497 CA373791494 |
170 | H>R | No |
ClinGen gnomAD |
|
|
rs1248509002 CA373791520 |
172 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750979783 CA5119215 |
172 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA373791562 rs1274384415 |
174 | S>C | No |
ClinGen TOPMed |
|
|
rs1564090254 CA373791571 |
175 | R>W | No |
ClinGen Ensembl |
|
|
rs1431548971 CA373791631 |
178 | S>C | No |
ClinGen TOPMed |
|
|
rs1166157459 CA373791660 |
180 | Q>E | No |
ClinGen gnomAD |
|
|
rs943553614 CA195308508 |
181 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200476529 CA195308513 |
182 | V>I | No |
ClinGen TOPMed |
|
|
rs1399793724 CA373791747 |
186 | S>L | No |
ClinGen TOPMed |
|
|
rs1340942112 CA373791825 |
193 | L>P | No |
ClinGen Ensembl |
|
|
rs1587878439 CA373796377 |
194 | I>T | No |
ClinGen Ensembl |
|
|
CA373796396 rs1276980680 |
195 | R>Q | No |
ClinGen Ensembl |
|
|
CA5119245 rs768385861 |
196 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776335006 CA5119247 |
199 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs761439688 CA5119248 |
200 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5119249 rs769228620 |
201 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415545002 CA373796559 |
202 | S>F | No |
ClinGen gnomAD |
|
|
rs1435690353 CA373796600 |
204 | A>V | No |
ClinGen TOPMed |
|
|
rs763405498 CA5119251 |
206 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA373796713 rs1237227040 |
210 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373796802 rs1587878599 |
213 | V>G | No |
ClinGen Ensembl |
|
|
rs867241355 CA195328246 |
217 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1204905426 CA373796919 |
219 | D>G | No |
ClinGen Ensembl |
|
|
rs968372087 CA195328272 |
219 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200498885 CA195328285 |
230 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746979231 CA373797208 |
232 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201857010 CA5119264 |
236 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs764611974 CA5119292 |
242 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA373798290 rs1211510060 |
242 | E>K | No |
ClinGen gnomAD |
|
|
rs184127752 COSM98962 CA5119295 |
246 | Y>C | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs762132998 CA5119294 |
246 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA373798556 rs1564104857 |
249 | D>N | No |
ClinGen Ensembl |
|
|
rs754907386 CA5119297 |
254 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1369329028 CA373798832 |
258 | P>A | No |
ClinGen TOPMed |
|
|
rs767330445 CA5119298 |
258 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA195330400 rs201538038 |
259 | C>S | No |
ClinGen Ensembl |
|
|
rs1457595031 CA373798855 |
259 | C>Y | No |
ClinGen gnomAD |
|
|
RCV000956729 CA5119299 rs112619650 |
262 | I>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5119300 rs112619650 |
262 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5119301 rs199886319 |
263 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373799017 rs1381635737 |
265 | Q>E | No |
ClinGen gnomAD |
|
|
rs1303406633 CA373799131 |
266 | G>A | No |
ClinGen gnomAD |
|
|
CA373799142 rs1412415859 |
267 | N>K | No |
ClinGen gnomAD |
|
|
rs573465357 CA5119314 |
267 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5119315 rs762923649 |
269 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373799150 rs762923649 |
269 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119316 rs766542780 |
271 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA373799165 rs1587883251 |
271 | G>R | No |
ClinGen Ensembl |
|
|
CA5119317 rs752623158 |
272 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756047567 CA5119318 |
273 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119319 rs139520862 |
273 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754399366 CA5119321 |
274 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA373799188 rs1257007691 |
275 | Q>R | No |
ClinGen gnomAD |
|
|
CA373799192 rs1327829955 |
276 | L>F | No |
ClinGen TOPMed |
|
|
CA5119322 rs778399477 |
277 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5119324 rs757842806 |
278 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750138411 CA5119323 |
278 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA195330926 rs757842806 |
278 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249041521 CA373799224 |
281 | P>R | No |
ClinGen gnomAD |
|
|
CA5119327 rs201994789 |
282 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119325 rs377620701 |
282 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201994789 CA5119326 |
282 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373799386 rs1443199768 |
283 | T>I | No |
ClinGen TOPMed |
|
|
CA373799396 rs781759648 |
284 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs781759648 CA5119347 |
284 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA5119350 rs770053469 |
286 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA5119348 rs748752350 |
286 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs770053469 CA5119349 |
286 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA195333197 rs143341039 |
288 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771204624 CA5119352 |
291 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA195333230 rs868127003 |
295 | S>L | No |
ClinGen Ensembl |
|
|
CA5119353 rs774373792 |
299 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373799660 rs1307122025 |
301 | P>T | No |
ClinGen gnomAD |
|
|
rs201228592 CA195333246 |
302 | G>D | No |
ClinGen gnomAD |
|
|
CA373800401 rs1159991699 |
306 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM1267084 COSM1267085 rs1163023178 CA373800423 |
307 | S>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1163023178 CA373800421 |
307 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773064875 COSM1187758 COSM1187757 CA5119376 |
308 | P>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5119375 rs769804435 |
308 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199612745 CA195339298 |
311 | G>E | No |
ClinGen Ensembl |
|
|
CA373800444 rs1415471045 |
311 | G>R | No |
ClinGen TOPMed |
|
|
rs766337942 CA5119378 |
312 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119377 rs762789798 |
312 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201840933 CA5119379 |
313 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA195339322 rs200684262 |
313 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA373800460 rs1184262392 |
314 | Q>P | No |
ClinGen TOPMed |
|
|
rs562109939 CA5119380 |
315 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1481997940 CA373800465 |
315 | E>K | No |
ClinGen TOPMed |
|
|
CA5119381 rs767074131 |
317 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1221954322 CA373800501 |
320 | F>S | No |
ClinGen gnomAD |
|
|
CA5119382 rs527810746 |
321 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA195339380 rs903194537 |
322 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs935966981 CA195339388 |
327 | L>R | No |
ClinGen TOPMed |
|
|
rs201358181 CA195339399 |
329 | P>L | No |
ClinGen Ensembl |
|
|
CA5119384 rs756535744 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373800572 rs1317401345 |
331 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA195339400 rs1054454272 |
333 | D>E | No |
ClinGen Ensembl |
|
|
rs139388374 CA5119403 |
335 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200099811 CA195339798 |
336 | P>L | No |
ClinGen Ensembl |
|
|
CA5119406 rs762311925 |
337 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5119405 rs144168552 |
337 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs56071116 CA5119407 |
338 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA195339832 rs200994798 |
340 | A>D | No |
ClinGen Ensembl |
|
|
RCV001270909 rs1827861920 |
342 | P>T | No |
ClinVar dbSNP |
|
|
CA5119410 rs780302699 |
351 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA195339858 rs201479078 |
353 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM247664 COSM1463523 RCV001270702 CA5119412 rs200167353 |
353 | A>T | liver large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA373801157 rs201479078 |
353 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs527917433 CA5119416 |
356 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201460357 CA195339884 |
361 | K>E | No |
ClinGen TOPMed |
|
|
rs745623852 CA5119417 |
361 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373801313 rs1196002732 |
363 | V>A | No |
ClinGen gnomAD |
|
|
rs775193698 CA5119419 |
363 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3382597 CA195339920 rs199772052 COSM3382598 |
367 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1432606619 CA373801404 |
369 | L>R | No |
ClinGen gnomAD |
|
|
COSM1132439 rs369986984 CA5119422 |
371 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5119425 rs750979864 |
372 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA373801478 rs1462850247 |
374 | D>V | No |
ClinGen gnomAD |
|
|
rs201179887 CA195339933 |
375 | K>E | No |
ClinGen Ensembl |
|
|
rs867106160 CA195339935 |
381 | N>S | No |
ClinGen Ensembl |
|
|
rs1425624891 CA373801601 |
384 | T>I | No |
ClinGen gnomAD |
|
|
CA5119451 rs750317856 |
395 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs758281930 CA5119452 |
396 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779858341 CA5119453 |
398 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373801739 rs1161152150 |
401 | V>G | No |
ClinGen gnomAD |
|
|
rs986300832 CA195342364 |
401 | V>M | No |
ClinGen TOPMed |
|
|
rs79190821 CA195342377 |
402 | K>E | No |
ClinGen gnomAD |
|
|
CA195342415 rs551292916 |
411 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA195342401 rs551292916 |
411 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA5119459 rs772725630 |
412 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs201438493 CA195342452 |
412 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201438493 CA5119458 |
412 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1005774953 CA195342470 |
413 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1392335589 CA373801951 |
415 | D>G | No |
ClinGen gnomAD |
|
|
CA373802011 rs1352135646 |
419 | A>S | No |
ClinGen gnomAD |
|
|
CA373802013 rs1352135646 |
419 | A>T | No |
ClinGen gnomAD |
|
|
rs1484013160 CA373802080 |
423 | V>I | No |
ClinGen TOPMed |
|
|
CA373802192 rs1281095615 |
429 | N>Y | No |
ClinGen gnomAD |
|
|
CA373802208 rs1350208195 |
430 | P>S | No |
ClinGen gnomAD |
|
|
rs202166418 CA373802240 |
432 | I>M | No |
ClinGen TOPMed |
|
|
rs1255664185 CA373802236 |
432 | I>V | No |
ClinGen gnomAD |
|
|
CA373802241 rs1480802433 |
433 | V>M | No |
ClinGen gnomAD |
|
|
CA5119464 rs768049481 |
435 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201416422 CA5119466 |
436 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373802267 rs1277601136 |
437 | G>R | No |
ClinGen TOPMed |
|
|
CA5119467 rs764211267 |
438 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5119469 rs200202947 |
440 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766204929 CA5119470 |
441 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373802314 rs1463256203 |
444 | W>G | No |
ClinGen gnomAD |
|
|
rs1375203726 CA373802337 |
447 | V>F | No |
ClinGen gnomAD |
|
|
CA373802335 rs1375203726 |
447 | V>I | No |
ClinGen gnomAD |
|
|
RCV001270703 CA373802363 rs1304839707 |
450 | M>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs747744702 CA5119474 |
450 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1587903369 CA373802399 |
456 | L>V | No |
ClinGen Ensembl |
|
|
rs748720673 CA5119477 |
457 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA373802407 rs1564115200 |
457 | N>S | No |
ClinGen Ensembl |
|
|
rs770526378 CA5119478 |
460 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5119479 rs779277261 |
463 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs532798885 CA5119500 |
466 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA195343583 rs867465066 |
467 | K>N | No |
ClinGen Ensembl |
|
|
CA373802492 rs1332524184 |
467 | K>T | No |
ClinGen gnomAD |
|
|
rs1196120901 CA373802510 |
469 | K>N | No |
ClinGen TOPMed |
|
|
rs201930376 CA5119501 |
470 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404069068 CA373802530 |
472 | I>T | No |
ClinGen gnomAD |
|
|
rs776712281 CA5119503 |
472 | I>V | No |
ClinGen ExAC |
|
|
rs1025377245 CA195343601 |
475 | V>L | No |
ClinGen gnomAD |
|
|
rs201724218 CA195343616 |
478 | V>I | No |
ClinGen TOPMed |
|
|
CA195343617 COSM1463524 rs763387456 COSM1463525 |
479 | S>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs769702408 CA5119505 |
480 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5119504 rs762096925 |
480 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA195343633 rs200456955 |
482 | M>V | No |
ClinGen Ensembl |
|
|
rs147125933 CA5119506 |
483 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351271905 CA373802638 |
488 | S>N | No |
ClinGen TOPMed |
|
|
rs759425291 CA5119507 |
489 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373802745 rs1434405629 |
504 | T>S | No |
ClinGen TOPMed |
|
|
CA5119512 rs764020430 |
505 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs34231418 CA5119516 |
513 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA195343696 rs886319107 |
518 | A>P | No |
ClinGen TOPMed |
|
|
rs200320837 CA5119519 |
520 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119520 rs763539783 |
520 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5119518 rs200320837 |
520 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119521 rs781627939 |
522 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA195343713 rs753460987 |
524 | N>K | No |
ClinGen Ensembl |
|
|
CA5119522 rs748266950 |
525 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs867257832 CA195350152 |
532 | G>R | No |
ClinGen Ensembl |
|
|
CA373802973 rs1564125529 |
535 | P>S | No |
ClinGen Ensembl |
|
|
rs1163351061 CA373802977 |
536 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5119541 rs371627100 |
537 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5119543 rs749583177 |
539 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5119545 rs774431067 |
540 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1486347243 CA373803016 |
541 | P>L | No |
ClinGen TOPMed |
|
|
rs776473897 CA5119548 |
545 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs201065688 CA195350198 |
546 | Y>* | No |
ClinGen 1000Genomes |
|
|
rs780848009 CA195350204 |
547 | Y>C | No |
ClinGen Ensembl |
|
|
rs1587923744 CA373803084 |
551 | S>G | No |
ClinGen Ensembl |
|
|
CA373803086 rs1376063120 |
551 | S>N | No |
ClinGen gnomAD |
|
|
CA195350207 rs199801793 |
552 | K>R | No |
ClinGen gnomAD |
|
|
rs765007451 CA5119550 |
554 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762706714 CA5119552 |
562 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1028055781 CA373803206 |
567 | S>C | No |
ClinGen TOPMed |
|
|
CA195350233 rs1028055781 |
567 | S>F | No |
ClinGen TOPMed |
|
|
rs751142108 CA5119554 |
567 | S>P | No |
ClinGen ExAC |
|
|
CA5119559 rs756500326 |
568 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA5119558 rs753206782 |
568 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1151379 COSM753905 CA5119561 rs778118969 |
569 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs757495524 CA5119564 |
570 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs757495524 CA5119563 |
570 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA195350276 rs201765057 |
574 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373803248 rs201765057 |
574 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA373803268 rs1265514351 |
575 | G>A | No |
ClinGen gnomAD |
|
|
rs1587924894 CA373803274 |
576 | M>R | No |
ClinGen Ensembl |
|
|
rs1587924886 CA373803270 |
576 | M>V | No |
ClinGen Ensembl |
|
|
rs369492720 CA5119591 |
583 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446364850 CA373803333 |
584 | M>I | No |
ClinGen gnomAD |
|
|
rs1162520095 CA373803350 |
587 | K>E | No |
ClinGen gnomAD |
|
|
rs1162520095 CA373803349 |
587 | K>Q | No |
ClinGen gnomAD |
|
|
CA373803361 rs1211495124 |
588 | G>A | No |
ClinGen TOPMed |
|
|
rs748067972 CA5119593 COSM3723760 COSM3723761 |
590 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA373803393 rs1188120746 |
593 | C>Y | No |
ClinGen gnomAD |
|
|
CA195350585 rs774626541 |
595 | A>V | No |
ClinGen Ensembl |
|
|
rs1587924999 CA373803417 |
597 | C>G | No |
ClinGen Ensembl |
|
|
rs777894974 CA5119595 |
599 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs749064963 CA5119596 |
601 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs200438123 CA373803459 COSM48799 |
603 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5119598 rs200438123 |
603 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340392673 CA373803485 |
606 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761206068 CA5119602 |
612 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200612476 CA5119620 |
618 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139348511 CA5119622 |
620 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762320199 CA5119625 |
623 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA5119626 rs765534848 |
624 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs763412620 CA5119628 |
625 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119627 rs773478505 |
625 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs150998279 CA5119629 |
628 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1228112 CA5119631 COSM1228111 rs755100350 |
633 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1587934653 CA373787559 |
634 | V>G | No |
ClinGen Ensembl |
|
|
rs1217642138 CA373787556 |
634 | V>L | No |
ClinGen gnomAD |
1 associated diseases with P43405
[MIM: 619381]: Immunodeficiency 82 with systemic inflammation (IMD82)
An autosomal dominant immunologic disorder with onset in early childhood. It is characterized by recurrent infections with various organisms, and multi-organ inflammation that manifests as colitis, hepatitis, arthritis and dermatitis. Patients have a propensity for the development of lymphoma, usually in adulthood. Disease severity is variable. {ECO:0000269|PubMed:33782605}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant immunologic disorder with onset in early childhood. It is characterized by recurrent infections with various organisms, and multi-organ inflammation that manifests as colitis, hepatitis, arthritis and dermatitis. Patients have a propensity for the development of lymphoma, usually in adulthood. Disease severity is variable. {ECO:0000269|PubMed:33782605}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for P43405
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA polymerase sigma-70 | 159 - 172 | IPR000943-1 |
| domain | RNA polymerase sigma-70 | 183 - 191 | IPR000943-2 |
| domain | RNA polymerase sigma-70 | 307 - 319 | IPR000943-3 |
| domain | RNA polymerase sigma-70 | 328 - 354 | IPR000943-4 |
| domain | RNA polymerase sigma factor 70, region 1.1 | 24 - 80 | IPR007127 |
| domain | RNA polymerase sigma-70 region 3 | 214 - 290 | IPR007624 |
| domain | RNA polymerase sigma-70 region 2 | 135 - 204 | IPR007627 |
| domain | RNA polymerase sigma-70 region 4 | 303 - 356 | IPR007630 |
| domain | RNA polymerase sigma-70 region 1.2 | 97 - 129 | IPR009042 |
| domain | RNA polymerase sigma factor RpoD, C-terminal | 131 - 367 | IPR012760 |
| domain | RNA polymerase sigma-70 like domain | 133 - 356 | IPR014284 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24418 | TYROSINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24418:SF231 | TYROSINE-PROTEIN KINASE SYK |
| PANTHER Protein Class | non-receptor tyrosine protein kinase | |
| PANTHER Pathway Category |
B cell activation Syk |
|
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| B cell receptor complex | An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early phagosome | A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| T cell receptor complex | A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. |
16 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| integrin binding | Binding to an integrin. |
| interleukin-15 receptor binding | Binding to an interleukin-15 receptor. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
| phosphatase binding | Binding to a phosphatase. |
| phospholipase binding | Binding to a phospholipase. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
| SH2 domain binding | Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| Toll-like receptor binding | Binding to a Toll-like protein, a pattern recognition receptor that binds pattern motifs from a variety of microbial sources to initiate an innate immune response. |
73 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| beta selection | The process in which successful recombination of a T cell receptor beta chain into a translatable protein coding sequence leads to rescue from apoptosis and subsequent proliferation of an immature T cell. |
| blood vessel morphogenesis | The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. |
| cell activation | A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to lectin | 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 lectin stimulus. A lectin is a carbohydrate-binding protein, highly specific for binding sugar moieties. |
| cellular response to lipid | 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 lipid stimulus. |
| cellular response to low-density lipoprotein particle stimulus | 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 low-density lipoprotein particle 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. |
| collagen-activated tyrosine kinase receptor signaling pathway | The series of molecular signals initiated by collagen binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| 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. |
| Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-3-mediated signaling pathway | The series of molecular signals initiated by interleukin-3 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| 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. |
| leukocyte activation involved in immune response | A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| leukocyte cell-cell adhesion | The attachment of a leukocyte to another cell via adhesion molecules. |
| leukotriene biosynthetic process | The chemical reactions and pathways resulting in the formation of leukotriene, a pharmacologically active substance derived from a polyunsaturated fatty acid, such as arachidonic acid. |
| lymph vessel development | The process whose specific outcome is the progression of a lymph vessel over time, from its formation to the mature structure. |
| macrophage activation involved in immune response | A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| negative regulation of inflammatory response to antigenic stimulus | Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. |
| neutrophil activation involved in immune response | The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| neutrophil chemotaxis | The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| positive regulation of alpha-beta T cell differentiation | Any process that activates or increases the frequency, rate or extent of alpha-beta T cell differentiation. |
| positive regulation of alpha-beta T cell proliferation | Any process that activates or increases the frequency, rate or extent of alpha-beta T cell proliferation. |
| positive regulation of B cell differentiation | Any process that activates or increases the frequency, rate or extent of B cell differentiation. |
| positive regulation of bone resorption | Any process that activates or increases the frequency, rate or extent of bone resorption. |
| positive regulation of calcium-mediated signaling | Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling. |
| positive regulation of cell adhesion mediated by integrin | Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process. |
| positive regulation of gamma-delta T cell differentiation | Any process that activates or increases the frequency, rate or extent of gamma-delta T cell differentiation. |
| positive regulation of granulocyte macrophage colony-stimulating factor production | Any process that activates or increases the frequency, rate, or extent of granulocyte macrophage colony-stimulating factor production. |
| positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
| positive regulation of interleukin-12 production | Any process that activates or increases the frequency, rate, or extent of interleukin-12 production. |
| positive regulation of interleukin-3 production | Any process that activates or increases the frequency, rate, or extent of interleukin-3 production. |
| positive regulation of interleukin-4 production | Any process that activates or increases the frequency, rate, or extent of interleukin-4 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 interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
| positive regulation of JUN kinase activity | Any process that activates or increases the frequency, rate or extent of JUN kinase activity. |
| positive regulation of killing of cells of other organism | Any process that activates or increases the frequency, rate or extent of the killing by an organism of cells in another organism. |
| positive regulation of mast cell degranulation | Any process that activates or increases the frequency, rate or extent of mast cell degranulation. |
| positive regulation of monocyte chemotactic protein-1 production | Any process that activates or increases the frequency, rate, or extent of production of monocyte chemotactic protein-1. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
| positive regulation of receptor internalization | Any process that activates or increases the frequency, rate or extent of receptor internalization. |
| positive regulation of superoxide anion generation | Any process that activates or increases the frequency, rate or extent of enzymatic generation of superoxide by a cell. |
| 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 interferon production | Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| receptor internalization | A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane. |
| regulation of arachidonic acid secretion | Any process that modulates the rate, frequency, or extent of arachidonic acid secretion, the controlled release of arachidonic acid from a cell or a tissue. |
| regulation of DNA-binding transcription factor activity | Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| regulation of ERK1 and ERK2 cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| regulation of neutrophil degranulation | Any process that modulates the frequency, rate, or extent of neutrophil degranulation. |
| regulation of phagocytosis | Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. |
| regulation of platelet activation | Any process that modulates the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. |
| regulation of platelet aggregation | Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. |
| regulation of superoxide anion generation | Any process that modulates the frequency, rate or extent of enzymatic generation of superoxide by a cell. |
| regulation of tumor necrosis factor-mediated signaling pathway | Any process that modulates the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor. |
| serotonin secretion by platelet | The regulated release of serotonin by a platelet or group of platelets. |
| stimulatory C-type lectin receptor signaling pathway | The series of molecular signals initiated by the binding of C-type lectin to its receptor on the surface of a target cell, and resulting in cellular activation. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
32 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1N9Y5 | SYK | Tyrosine-protein kinase SYK | Gallus gallus (Chicken) | SS |
| 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 |
| Q06187 | BTK | Tyrosine-protein kinase BTK | 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 |
| P43404 | Zap70 | Tyrosine-protein kinase ZAP-70 | Mus musculus (Mouse) | SS |
| P48025 | Syk | Tyrosine-protein kinase SYK | Mus musculus (Mouse) | SS |
| Q00655 | SYK | Tyrosine-protein kinase SYK | Sus scrofa (Pig) | SS |
| Q64725 | Syk | Tyrosine-protein kinase SYK | Rattus norvegicus (Rat) | SS |
| Q9SYA0 | At1g61500 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FG33 | LECRKS5 | Probable L-type lectin-domain containing receptor kinase S.5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASSGMADSA | NHLPFFFGNI | TREEAEDYLV | QGGMSDGLYL | LRQSRNYLGG | FALSVAHGRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AHHYTIEREL | NGTYAIAGGR | THASPADLCH | YHSQESDGLV | CLLKKPFNRP | QGVQPKTGPF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDLKENLIRE | YVKQTWNLQG | QALEQAIISQ | KPQLEKLIAT | TAHEKMPWFH | GKISREESEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVLIGSKTNG | KFLIRARDNN | GSYALCLLHE | GKVLHYRIDK | DKTGKLSIPE | GKKFDTLWQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VEHYSYKADG | LLRVLTVPCQ | KIGTQGNVNF | GGRPQLPGSH | PATWSAGGII | SRIKSYSFPK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PGHRKSSPAQ | GNRQESTVSF | NPYEPELAPW | AADKGPQREA | LPMDTEVYES | PYADPEEIRP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KEVYLDRKLL | TLEDKELGSG | NFGTVKKGYY | QMKKVVKTVA | VKILKNEAND | PALKDELLAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ANVMQQLDNP | YIVRMIGICE | AESWMLVMEM | AELGPLNKYL | QQNRHVKDKN | IIELVHQVSM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GMKYLEESNF | VHRDLAARNV | LLVTQHYAKI | SDFGLSKALR | ADENYYKAQT | HGKWPVKWYA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PECINYYKFS | SKSDVWSFGV | LMWEAFSYGQ | KPYRGMKGSE | VTAMLEKGER | MGCPAGCPRE |
| 610 | 620 | 630 | |||
| MYDLMNLCWT | YDVENRPGFA | AVELRLRNYY | YDVVN |