Descriptions

(Annotation based on sequence homology with P31751)
Akt is a serine/threonine kinase that belongs to a group of proteins called the AGC superfamily. It is involved in various biological responses through the phosphatidylinositol 3-kinase (PI3K) signal transduction pathway. Akt2, in particular, is regulated by different regions of the protein.
The N-terminal PH domain of Akt2 plays a regulatory role in its activation. Phosphorylation of Ser474 in the C-terminal regulatory domain is also necessary for full activation of Akt2. These modifications help activate the kinase and enable it to carry out its functions.
The linker region between the N-lobe and C-lobe of Akt2 occupies the ATP binding site. Additionally, the activation loop within Akt2 aids in autoinhibition by blocking the binding of peptide substrates, while still allowing access to the ATP binding site.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

521-544 (Activation loop from InterPro)

Target domain

374-704 (Catalytic domain of the Serine/Threonine Kinase, Novel Protein Kinase C theta)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

9 structures for Q04759

Entry ID Method Resolution Chain Position Source
1XJD X-ray 200 A A 362-706 PDB
2ENJ NMR - A 1-125 PDB
2ENN NMR - A 144-213 PDB
2ENZ NMR - A 227-284 PDB
2JED X-ray 232 A A/B 361-706 PDB
4Q9Z X-ray 260 A A/B 374-706 PDB
4RA5 X-ray 261 A A/B 374-706 PDB
5F9E X-ray 200 A A/B 361-706 PDB
AF-Q04759-F1 Predicted AlphaFoldDB

468 variants for Q04759

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001784354
rs2236379
CA5399338
RCV001672927
VAR_020401
330 P>L Inflammatory bowel disease 1 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753698547
COSM298775
CA5399737
2 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA375949404
rs1416797090
5 L>V No ClinGen
TOPMed
CA375949397
rs765069464
6 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5399735
rs765069464
6 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776799818
CA5399733
8 G>S No ClinGen
ExAC
gnomAD
CA5399731
rs200607102
9 L>F No ClinGen
ExAC
gnomAD
CA5399729
rs773718562
10 S>F No ClinGen
ExAC
gnomAD
CA5399726
rs779203420
11 N>H No ClinGen
ExAC
rs780943457
CA5399723
11 N>K No ClinGen
ExAC
rs745547935
CA5399725
11 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs745547935
CA5399724
11 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA5399727
rs779203420
11 N>Y No ClinGen
ExAC
CA5399722
rs756843093
12 F>L No ClinGen
ExAC
rs777420994
CA5399721
13 D>N No ClinGen
ExAC
gnomAD
CA5399719
rs758327332
13 D>V No ClinGen
ExAC
rs777420994
CA5399720
13 D>Y No ClinGen
ExAC
gnomAD
CA375949354
rs1588367872
14 C>G No ClinGen
Ensembl
CA375949353
rs1391203747
14 C>Y No ClinGen
TOPMed
rs764984890
CA5399717
15 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs759332107
CA5399716
16 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1588367829
CA375949342
16 S>P No ClinGen
Ensembl
rs199974877
CA5399714
18 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772179613
CA5399711
22 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1183410285
CA375949295
23 E>K No ClinGen
Ensembl
CA5399709
rs774882949
24 A>V No ClinGen
ExAC
gnomAD
rs768925235
CA5399708
25 V>I No ClinGen
ExAC
gnomAD
TCGA novel 26 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749609338
CA375949272
26 N>K No ClinGen
ExAC
gnomAD
rs145984477
CA5399705
27 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399706
rs780998510
27 P>S No ClinGen
ExAC
gnomAD
CA375949255
rs1248923790
29 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 30 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372791078
CA5399704
COSM172484
33 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375949232
rs372791078
33 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1219886212
CA375949206
36 Y>F No ClinGen
gnomAD
CA375949202
rs1343776061
37 V>L No ClinGen
gnomAD
CA5399702
rs757898311
38 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375949129
rs1404486723
41 N>I No ClinGen
gnomAD
rs142437573
CA202353238
42 G>E No ClinGen
ESP
TOPMed
gnomAD
CA5399684
COSM919537
rs771500817
42 G>R endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 43 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749207936
CA5399680
44 M>I No ClinGen
ExAC
gnomAD
rs754974344
CA5399682
44 M>K No ClinGen
ExAC
gnomAD
rs754974344
CA5399681
44 M>T No ClinGen
ExAC
gnomAD
CA5399683
rs184174186
44 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375949092
rs1460840638
47 Q>* No ClinGen
gnomAD
CA5399679
rs779873274
47 Q>H No ClinGen
ExAC
gnomAD
rs1241311513
CA375949060
51 T>I No ClinGen
TOPMed
CA375949057
rs1210490127
52 M>V No ClinGen
gnomAD
CA5399678
rs755871696
53 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 54 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1588359967
CA375949010
58 S>T No ClinGen
Ensembl
CA375949001
rs1159540508
59 T>I No ClinGen
TOPMed
rs767720547
CA5399676
62 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5399675
rs757291117
62 A>V No ClinGen
ExAC
gnomAD
rs369256272
CA5399674
63 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs534081531
CA5399673
64 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1381004365
CA375948966
65 N>D No ClinGen
gnomAD
rs139725254
CA5399672
65 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399670
rs765731538
66 K>R No ClinGen
ExAC
gnomAD
rs772748628
CA5399668
67 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA5399667
rs17555072
68 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773969132
CA5399665
69 V>I No ClinGen
ExAC
gnomAD
CA375948928
rs1354679126
71 Q>E No ClinGen
TOPMed
gnomAD
rs768130660
CA5399664
73 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1241024569
CA375948903
74 V>A No ClinGen
gnomAD
CA375948907
rs1564364274
74 V>M No ClinGen
Ensembl
rs148376969
COSM1348611
CA5399662
79 V>M Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 82 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375948834
rs1245497985
84 E>A No ClinGen
gnomAD
rs1292836707
CA375948839
84 E>K No ClinGen
gnomAD
CA375948826
rs1357821968
85 T>I No ClinGen
TOPMed
gnomAD
CA375948828
rs1357821968
85 T>N No ClinGen
TOPMed
gnomAD
CA375948822
rs1383281841
86 T>I No ClinGen
gnomAD
CA5399659
rs780846102
COSM1505921
87 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751712216
CA5399657
91 S>L No ClinGen
ExAC
gnomAD
CA375948765
rs1419388636
95 R>T No ClinGen
gnomAD
CA375948758
rs1423605655
96 C>Y No ClinGen
gnomAD
CA5399653
rs765778432
97 R>G No ClinGen
ExAC
gnomAD
rs1429074138
CA375948751
97 R>K No ClinGen
gnomAD
rs1184682677
CA375948743
98 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA202353136
rs528924742
100 N>K No ClinGen
1000Genomes
TOPMed
gnomAD
COSM1581542
CA375948724
rs1269685233
101 G>R Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA375948722
rs1269685233
101 G>W No ClinGen
TOPMed
gnomAD
CA375948718
rs1333645341
102 K>* No ClinGen
TOPMed
rs1440976611
CA375948692
105 I>T No ClinGen
TOPMed
rs759561071
CA5399626
108 E>D No ClinGen
ExAC
gnomAD
CA202351197
rs868568165
108 E>K No ClinGen
Ensembl
CA5399624
rs201241305
112 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA202351196
rs769257651
113 G>S No ClinGen
gnomAD
rs746727874
CA5399623
114 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA375948594
rs1213980245
118 N>H No ClinGen
TOPMed
CA5399621
rs772485480
124 E>* No ClinGen
ExAC
gnomAD
CA202351185
rs772485480
124 E>K No ClinGen
ExAC
gnomAD
rs1175577319
CA375948534
126 S>N No ClinGen
TOPMed
gnomAD
CA375948531
rs1479526470
126 S>R No ClinGen
gnomAD
CA202344678
rs956709828
129 K>N No ClinGen
Ensembl
COSM3790885
rs1032771016
CA202344666
131 M>I urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
CA375948483
rs1445675231
131 M>K No ClinGen
TOPMed
gnomAD
CA375948482
rs1445675231
131 M>T No ClinGen
TOPMed
gnomAD
CA375948486
rs1165675851
131 M>V No ClinGen
gnomAD
CA375948476
rs1182289922
132 N>T No ClinGen
gnomAD
CA5399603
rs773196997
133 E>D No ClinGen
ExAC
gnomAD
CA5399602
rs771967897
136 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA5399601
rs374126448
136 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399596
rs756637907
137 E>D No ClinGen
ExAC
gnomAD
CA5399598
rs749268662
137 E>G No ClinGen
ExAC
gnomAD
CA5399594
rs138291602
138 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1289394
rs138291602
CA5399595
138 G>V haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757580090
CA5399593
139 F>Y No ClinGen
ExAC
gnomAD
rs1259991075
CA375948416
141 A>D No ClinGen
TOPMed
rs1381766788
CA375948402
143 H>R No ClinGen
gnomAD
TCGA novel 145 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1358682132
CA375948382
146 R>Q No ClinGen
gnomAD
CA375948329
COSM1702025
rs1385017538
154 V>I skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs745983195
CA202344601
155 H>L No ClinGen
Ensembl
CA375948309
rs764743021
156 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs141631625
CA5399590
157 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1374184949
CA375948283
160 H>R No ClinGen
gnomAD
CA202344574
rs994508173
161 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1445974399
CA375948269
162 F>Y No ClinGen
gnomAD
rs898130909
CA202344554
164 A>V No ClinGen
TOPMed
CA5399587
rs201313286
165 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 166 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773250417
CA5399586
166 F>V No ClinGen
ExAC
gnomAD
CA5399584
rs761650722
170 P>T No ClinGen
ExAC
gnomAD
rs749514220
CA5399581
172 F>S No ClinGen
ExAC
gnomAD
rs775482893
CA5399580
173 C>S No ClinGen
ExAC
gnomAD
CA5399579
rs769836139
174 S>A No ClinGen
ExAC
gnomAD
CA202344501
rs867507515
174 S>F No ClinGen
Ensembl
CA375948174
rs1405801380
177 H>R No ClinGen
gnomAD
CA5399578
rs377347109
177 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1229518732
CA375948109
184 N>K No ClinGen
gnomAD
rs1259615627
CA375948108
185 K>Q No ClinGen
TOPMed
TCGA novel 187 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233263552
CA375948075
189 Q>P No ClinGen
gnomAD
CA375948061
rs1180770712
191 R>* No ClinGen
gnomAD
COSM919534
rs766539586
CA5399551
191 R>Q Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs541457804
CA5399550
192 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs367819694
CA375948040
192 Q>H No ClinGen
ESP
gnomAD
rs370454392
CA5399528
194 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370454392
CA5399527
194 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375948020
rs1484539000
195 A>V No ClinGen
TOPMed
rs777706116
CA5399526
202 I>T No ClinGen
ExAC
gnomAD
TCGA novel 205 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1251068516
CA375947942
206 I>T No ClinGen
TOPMed
CA5399524
rs752600368
208 K>N No ClinGen
ExAC
gnomAD
CA375947915
rs1564352633
210 T>R No ClinGen
Ensembl
CA202343479
rs575581529
213 A>T No ClinGen
Ensembl
rs148789784
CA5399523
214 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000901655
rs148789784
CA5399522
214 I>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766480416
CA5399520
215 N>S No ClinGen
ExAC
gnomAD
rs1193210284
CA375947876
216 S>R No ClinGen
TOPMed
gnomAD
CA5399519
rs570087260
217 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA202343466
rs764498570
218 E>K No ClinGen
TOPMed
gnomAD
CA375947871
rs764498570
218 E>Q No ClinGen
TOPMed
gnomAD
CA5399515
rs774904627
220 M>I No ClinGen
ExAC
gnomAD
rs762222607
CA5399516
220 M>K No ClinGen
ExAC
gnomAD
rs768002808
CA5399517
220 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA375947834
rs1216299815
221 F>L No ClinGen
gnomAD
CA202339451
rs377699595
223 K>R No ClinGen
gnomAD
rs965460178
CA202339448
224 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 226 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375947772
rs1588755002
230 M>V No ClinGen
Ensembl
rs778777148
CA5399486
233 R>K No ClinGen
ExAC
gnomAD
TCGA novel 234 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375947729
rs1462457667
235 K>N No ClinGen
gnomAD
CA5399485
rs368962381
238 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399484
rs749018547
238 N>S No ClinGen
ExAC
gnomAD
VAR_042319 240 K>N a colorectal adenocarcinoma sample; somatic mutation [UniProt] No UniProt
rs866057165
CA202339427
242 P>L No ClinGen
gnomAD
rs750588252
CA5399481
243 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs752123243
CA5399478
248 C>S No ClinGen
ExAC
gnomAD
rs752123243
CA5399479
248 C>Y No ClinGen
ExAC
gnomAD
rs1206058542
CA375947602
254 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780298249
CA202339390
257 R>Q No ClinGen
TOPMed
gnomAD
CA5399475
rs753167345
257 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA375947576
rs1308648752
259 G>R No ClinGen
gnomAD
CA5399473
rs760419315
260 L>V No ClinGen
ExAC
gnomAD
CA5399472
rs772703616
261 K>R No ClinGen
ExAC
gnomAD
rs761258469
CA5399471
263 D>E No ClinGen
ExAC
gnomAD
rs774345124
CA5399404
264 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA375947542
COSM1603631
rs1206612498
264 A>S liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs774345124
CA5399403
264 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA375947522
rs1157011799
265 C>Y No ClinGen
gnomAD
rs1157797350
CA375947509
267 M>L No ClinGen
gnomAD
rs780480963
CA5399400
268 N>S No ClinGen
ExAC
gnomAD
CA5399398
rs374212849
274 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375947448
rs1190085994
275 T>K No ClinGen
gnomAD
rs1235800938
CA375947437
277 V>M No ClinGen
TOPMed
gnomAD
TCGA novel 278 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1224372749
CA375947419
279 N>K No ClinGen
TOPMed
CA375947396
rs1263659786
283 I>V No ClinGen
TOPMed
CA375947375
rs1186987207
285 Q>H No ClinGen
gnomAD
rs778313820
CA5399394
288 M>I No ClinGen
ExAC
gnomAD
CA375947351
rs1447344958
289 A>S No ClinGen
gnomAD
rs1214944610
CA375947347
290 E>Q No ClinGen
gnomAD
rs754458441
CA5399393
291 A>T No ClinGen
ExAC
gnomAD
COSM919531
rs1314078902
CA375947335
291 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA375947310
rs1187548346
295 I>T No ClinGen
TOPMed
rs554753559
CA5399389
297 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA375947285
rs1360805189
299 Q>E No ClinGen
gnomAD
CA5399358
rs773449510
301 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs773449510
CA375947258
301 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA375947252
rs1386027044
302 R>C No ClinGen
TOPMed
gnomAD
CA375947251
rs549529749
302 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5399357
COSM1505923
rs549529749
302 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142220465
CA5399356
304 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745477282
CA202334378
305 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA202334377
VAR_042320
rs45590231
306 D>V No ClinGen
UniProt
Ensembl
dbSNP
CA202334374
rs995610012
307 T>A No ClinGen
TOPMed
gnomAD
rs755647905
CA5399354
308 E>G No ClinGen
ExAC
gnomAD
CA202334371
rs755647905
308 E>V No ClinGen
ExAC
gnomAD
rs1374574402
CA375947199
310 I>N No ClinGen
TOPMed
gnomAD
CA202334369
rs931424668
311 F>L No ClinGen
TOPMed
rs781126650
CA5399352
313 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs757137773
CA5399351
314 G>D No ClinGen
ExAC
gnomAD
CA5399350
rs751429071
315 P>A No ClinGen
ExAC
gnomAD
COSM1348607
rs763773685
CA5399349
315 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA375947162
rs1457691905
316 V>A No ClinGen
TOPMed
gnomAD
rs765321541
CA5399346
319 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs765321541
CA375947141
319 G>V No ClinGen
ExAC
gnomAD
CA5399345
rs560199230
321 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA202334284
rs545042737
324 I>N No ClinGen
1000Genomes
gnomAD
CA375947112
rs545042737
324 I>T No ClinGen
1000Genomes
gnomAD
rs1231983640
CA375947114
324 I>V No ClinGen
gnomAD
rs182975279
CA5399343
COSM1581541
325 K>E haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs761077817
CA5399342
325 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1370556219
CA375947098
326 N>I No ClinGen
TOPMed
CA5399341
rs773679117
328 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs562496905
CA5399339
329 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA375947073
rs2236379
330 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 331 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 332 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5399334
rs757268229
332 C>S No ClinGen
ExAC
gnomAD
CA5399332
rs374983781
334 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374983781
CA5399331
334 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399329
rs139296268
336 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139296268
CA375947038
336 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375946997
rs1176859962
340 E>D No ClinGen
TOPMed
CA5399310
rs755280707
341 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753980026
COSM919530
CA5399309
342 Q>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA375946979
rs1455454011
343 G>V No ClinGen
TOPMed
CA5399308
rs780214821
344 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA375946966
rs1325209740
345 S>F No ClinGen
gnomAD
CA202333359
rs765253976
347 E>G No ClinGen
Ensembl
CA375946938
rs1356922068
349 P>L No ClinGen
TOPMed
gnomAD
CA202333345
rs1046402059
353 V>L No ClinGen
gnomAD
rs1046402059
CA375946914
353 V>M No ClinGen
gnomAD
CA5399303
rs34524148
VAR_042321
354 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5399304
rs34524148
354 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375946902
rs1325106786
355 K>E No ClinGen
TOPMed
gnomAD
CA5399302
rs764522089
356 M>T No ClinGen
ExAC
gnomAD
CA5399300
COSM1581540
rs776094307
358 H>Q haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs759262968
CA5399301
358 H>R No ClinGen
ExAC
gnomAD
CA5399299
rs770483429
359 L>V No ClinGen
ExAC
gnomAD
CA5399298
rs760035656
362 P>L No ClinGen
ExAC
gnomAD
CA202333309
rs913483219
362 P>S No ClinGen
Ensembl
rs1171023942
CA375946835
365 N>H No ClinGen
gnomAD
rs1477279170
CA375946830
365 N>K No ClinGen
gnomAD
rs1588734082
CA375946828
366 K>E No ClinGen
Ensembl
CA5399295
rs748058127
369 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA5399296
rs748058127
369 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs778724245
CA5399294
370 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 370 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1259157309
CA375946782
373 I>F No ClinGen
Ensembl
rs768299758
CA5399293
374 K>R No ClinGen
ExAC
gnomAD
rs1266603490
CA375946760
376 K>I No ClinGen
gnomAD
rs1564339088
CA375946755
377 I>F No ClinGen
Ensembl
CA375946753
rs1564339074
377 I>T No ClinGen
Ensembl
CA375946743
rs1211665940
378 E>D No ClinGen
gnomAD
rs1320172144
CA375946742
379 D>N No ClinGen
TOPMed
gnomAD
CA5399291
rs368444590
381 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA202333262
rs763344630
383 H>Y No ClinGen
Ensembl
rs1337736021
CA375946705
384 K>E No ClinGen
gnomAD
rs867694528
CA202333247
389 G>E No ClinGen
gnomAD
CA375946642
rs1449635080
392 G>V No ClinGen
gnomAD
CA375946619
rs1380861138
394 V>F No ClinGen
gnomAD
rs1231195584
CA375946576
400 K>R No ClinGen
TOPMed
CA375946557
rs1239272606
403 N>H No ClinGen
gnomAD
CA5399266
rs765615635
407 A>S No ClinGen
ExAC
gnomAD
CA5399265
rs765615635
407 A>T No ClinGen
ExAC
gnomAD
CA375946521
rs1219272209
408 I>V No ClinGen
TOPMed
gnomAD
rs367718623
CA5399262
410 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367718623
CA5399263
410 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367718623
CA5399264
410 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399258
rs762935560
414 D>E No ClinGen
ExAC
gnomAD
rs764007234
CA5399259
414 D>Y No ClinGen
ExAC
gnomAD
CA375946469
rs775187977
416 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5399257
rs775187977
416 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5399256
rs769589253
418 M>T No ClinGen
ExAC
gnomAD
rs1027093337
CA202330566
419 D>N No ClinGen
Ensembl
rs1411547658
CA375946442
420 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5399254
rs776935962
423 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1284795984
CA375946390
427 V>I No ClinGen
TOPMed
TCGA novel 428 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA202330525
rs995731822
430 R>T No ClinGen
gnomAD
CA5399252
rs747149352
431 V>I No ClinGen
ExAC
gnomAD
rs1416105383
CA375946351
433 S>T No ClinGen
gnomAD
CA375946335
rs1347860152
435 A>G No ClinGen
TOPMed
CA375946317
rs1232357612
437 E>D No ClinGen
gnomAD
rs1370456190
CA375946313
438 H>Y No ClinGen
gnomAD
rs200951898
CA5399250
COSM1702022
439 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM1474702
rs1274566995
CA375946286
442 T>M Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs750090233
CA5399246
443 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs200002531
CA5399244
445 F>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375946253
rs1228412155
446 C>W No ClinGen
gnomAD
rs756899614
CA5399243
448 F>L No ClinGen
ExAC
gnomAD
TCGA novel 451 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181715913
CA375946200
452 E>G No ClinGen
gnomAD
CA5399214
rs528116073
453 N>H No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 456 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1193617699
CA375946160
458 M>L No ClinGen
gnomAD
TCGA novel 460 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303121733
CA375946139
460 Y>F No ClinGen
TOPMed
CA375946126
rs1453085540
462 N>S No ClinGen
gnomAD
rs772062701
COSM1648732
CA5399211
463 G>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5399210
rs761886595
467 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375946086
rs1250416943
468 Y>H No ClinGen
gnomAD
CA375946085
rs1588699652
468 Y>S No ClinGen
Ensembl
rs774410928
CA5399209
471 Q>* No ClinGen
ExAC
gnomAD
CA375946055
rs769210536
472 S>N No ClinGen
ExAC
gnomAD
rs991691797
CA202354148
472 S>R No ClinGen
Ensembl
CA5399208
rs769210536
472 S>T No ClinGen
ExAC
gnomAD
rs1233522348
CA375946040
474 H>R No ClinGen
gnomAD
CA202354143
rs532831191
475 K>N No ClinGen
Ensembl
rs1447619852
CA375946016
477 D>E No ClinGen
gnomAD
rs1311301421
CA375946018
477 D>G No ClinGen
gnomAD
CA202354123
rs761719124
477 D>N No ClinGen
TOPMed
rs1395862493
CA375946014
478 L>I No ClinGen
gnomAD
RCV000956804
rs78855257
CA5399206
479 S>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5399205
rs770093970
481 A>V Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777417433
CA5399203
482 T>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 482 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 483 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA202353011
rs1019445556
484 Y>* No ClinGen
TOPMed
CA375945963
rs1265033637
484 Y>C No ClinGen
gnomAD
rs1028061687
CA202353003
485 A>S No ClinGen
Ensembl
rs1349915375
CA375945923
490 L>P No ClinGen
gnomAD
CA375945926
rs1164833694
490 L>V No ClinGen
TOPMed
rs996537837
CA202352979
493 Q>K No ClinGen
Ensembl
rs1403981107
CA375945891
495 L>P No ClinGen
TOPMed
CA375945884
rs1588696631
496 H>L No ClinGen
Ensembl
CA375945805
rs1341062893
506 K>R No ClinGen
TOPMed
rs999423432
CA202349693
513 D>H No ClinGen
TOPMed
rs771157420
CA5399166
515 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs747827626
CA5399165
516 G>R No ClinGen
ExAC
gnomAD
TCGA novel 517 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774213600
CA202349678
518 I>M No ClinGen
Ensembl
CA202349673
rs372724503
520 I>V No ClinGen
ESP
TOPMed
gnomAD
rs768290397
CA5399163
521 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs748878631
CA5399162
521 A>V No ClinGen
ExAC
gnomAD
rs1484594358
CA375945665
526 C>F No ClinGen
TOPMed
TCGA novel 530 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5399160
rs769820813
530 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs769820813
CA375945637
530 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs889551636
CA202349647
533 D>E No ClinGen
TOPMed
gnomAD
rs1443554970
CA375945608
534 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5399157
rs756942026
536 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5399155
rs758601583
537 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs758601583
CA5399154
537 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA375945581
rs1252250126
538 T>I No ClinGen
gnomAD
rs565602721
CA5399153
538 T>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1459100144
CA375945552
543 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1273978411
CA375945534
545 Y>C No ClinGen
gnomAD
rs754248268
CA5399150
547 A>T No ClinGen
ExAC
gnomAD
rs1343007540 550 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5399125
rs769348033
550 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs1158091325
CA375945011
552 L>P No ClinGen
gnomAD
rs759031814
CA5399124
554 Q>E No ClinGen
ExAC
gnomAD
rs200412009
CA5399123
555 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770899454
CA5399122
558 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 560 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375944909
rs1284118031
566 G>V No ClinGen
gnomAD
COSM1702021
CA5399117
rs778937392
569 L>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 570 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 572 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5399115
rs749386274
572 M>V No ClinGen
ExAC
gnomAD
CA375944836
rs1447717917
577 S>L No ClinGen
TOPMed
rs756728777
CA5399112
580 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs768018760
CA5399110
581 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 585 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 585 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA202339283
rs868518317
586 E>K No ClinGen
Ensembl
rs781756437
CA202339277
589 H>Y No ClinGen
Ensembl
rs1165990668
CA375944746
590 S>F No ClinGen
gnomAD
rs1345802773
CA375944748
590 S>P No ClinGen
TOPMed
rs368234215
CA5399108
591 I>V No ClinGen
ESP
ExAC
rs764851728
CA202339267
592 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs764851728
CA5399107
592 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5399106
COSM241254
rs759199634
592 R>H prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA375944735
rs759199634
592 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1441733311
CA375944732
593 M>L No ClinGen
TOPMed
CA202339265
rs376337967
593 M>R No ClinGen
ESP
TOPMed
CA5399105
rs200988366
595 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 596 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5399102
rs755445679
599 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760627023
CA5399103
599 P>S No ClinGen
ExAC
gnomAD
rs34663609
CA5399100
600 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5399101
COSM1222042
rs370703516
600 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs768808987
CA5399098
604 K>M No ClinGen
ExAC
gnomAD
CA375944645
rs1290998199
606 A>T No ClinGen
gnomAD
rs749499954
CA5399097
607 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs749499954
CA375944639
607 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1269588256
CA375944616
610 L>R No ClinGen
gnomAD
CA375944612
rs1040506959
CA202339217
611 V>L No ClinGen
TOPMed
gnomAD
CA375943097
rs1355308902
613 L>H No ClinGen
TOPMed
rs768460854
CA5399080
614 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA5399078
rs775800081
615 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs11258747
CA5399077
616 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781395221
CA5399075
616 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5399074
rs375864699
618 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399073
rs747509835
620 K>N No ClinGen
ExAC
gnomAD
rs199890234
CA5399072
624 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375942976
rs1480774596
625 R>K No ClinGen
gnomAD
TCGA novel 626 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375942934
rs1231902533
COSM1348602
629 R>C Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA202332547
rs951226172
629 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5399071
CA375942896
rs758729524
633 L>F No ClinGen
ExAC
gnomAD
CA375942885
rs147040074
635 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5399069
rs147040074
635 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753492294
CA5399070
COSM297616
635 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs961196644
CA202332520
641 E>K No ClinGen
TOPMed
rs1035888608
CA202332516
643 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs761691219
CA5399065
COSM3382949
644 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs201623843
CA375942823
644 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 645 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296599323
CA375942816
645 K>R No ClinGen
gnomAD
rs1376433443
CA375942810
646 E>A No ClinGen
gnomAD
rs751468198
CA5399064
646 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763811294
CA5399063
647 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1588642159
CA375942796
648 D>A No ClinGen
Ensembl
rs142951028
CA5399061
649 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142951028
CA5399060
649 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759796771
CA5399059
650 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs200308654
CA375942771
652 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs200308654
CA5399055
652 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA375942773
rs1179560313
652 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA375942768
rs1206409418
653 P>S No ClinGen
gnomAD
rs748571161
CA5399053
655 V>M No ClinGen
ExAC
gnomAD
rs758437355
CA5399022
660 D>E No ClinGen
ExAC
gnomAD
CA5399020
rs765137067
665 D>N No ClinGen
ExAC
gnomAD
rs1374561756
CA375942406
667 E>* No ClinGen
gnomAD
CA375942382
rs1460936242
669 L>V No ClinGen
TOPMed
rs1017468413
CA202331051
COSM1287392
672 K>N autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs759922021
COSM179491
CA5399018
674 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM1263086
rs1174580914
CA375942343
674 R>W oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA5399016
rs760787127
678 A>T No ClinGen
ExAC
gnomAD
CA5399014
rs143285381
679 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5399013
rs762330463
679 D>V No ClinGen
ExAC
gnomAD
rs774786292
CA5399012
680 R>I No ClinGen
ExAC
gnomAD
CA202330985
rs1004993573
683 I>V No ClinGen
TOPMed
gnomAD
rs1588637874
CA375942229
686 M>V No ClinGen
Ensembl
rs1390013588
CA375942190
689 N>D No ClinGen
TOPMed
rs749731877
CA5399009
690 M>K No ClinGen
ExAC
gnomAD
rs200838412
CA5399008
692 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375942148
rs200838412
692 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746598943
CA5399006
697 M>I No ClinGen
ExAC
gnomAD
rs763293223
CA202330939
698 N>K No ClinGen
gnomAD
CA375942070
rs1406928982
698 N>S No ClinGen
TOPMed
CA5399003
rs748100103
700 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1461248434
CA375942046
700 G>V No ClinGen
gnomAD
CA5399004
rs748100103
700 G>W No ClinGen
ExAC
TOPMed
gnomAD
COSM3931094
CA375942030
rs1388250720
702 E>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs753716547
CA5399000
703 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5399001
rs375649181
703 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760521941
CA202330908
706 S>Y No ClinGen
Ensembl

No associated diseases with Q04759

13 regional properties for Q04759

Type Name Position InterPro Accession
domain C2 domain 1 - 107 IPR000008
domain Protein kinase domain 380 - 634 IPR000719
domain AGC-kinase, C-terminal 635 - 706 IPR000961
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 159 - 210 IPR002219-1
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 231 - 283 IPR002219-2
active_site Serine/threonine-protein kinase, active site 500 - 512 IPR008271
binding_site Protein kinase, ATP binding site 386 - 409 IPR017441
domain Protein kinase, C-terminal 655 - 696 IPR017892
domain Diacylglycerol/phorbol-ester binding 157 - 171 IPR020454-1
domain Diacylglycerol/phorbol-ester binding 245 - 254 IPR020454-2
domain Diacylglycerol/phorbol-ester binding 258 - 269 IPR020454-3
domain Diacylglycerol/phorbol-ester binding 270 - 282 IPR020454-4
domain Novel protein kinase C theta, catalytic domain 374 - 704 IPR034668

Functions

Description
EC Number 2.7.11.13 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Cell membrane; Peripheral membrane protein
  • In resting T-cells, mostly localized in cytoplasm
  • In response to TCR stimulation, associates with lipid rafts and then localizes in the immunological synapse
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
aggresome An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules.
centriolar satellite A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
immunological synapse An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calcium-dependent protein kinase C activity Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein.
metal ion binding Binding to a metal ion.
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 C activity Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

25 GO annotations of biological process

Name Definition
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
CD4-positive, alpha-beta T cell proliferation The expansion of a CD4-positive, alpha-beta T cell population by cell division.
cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
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.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
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.
membrane protein ectodomain proteolysis The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain).
negative regulation of insulin receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling.
negative regulation of T cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of T cell death by apoptotic process.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of CD4-positive, alpha-beta T cell proliferation Any process that activates or increases the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation.
positive regulation of interleukin-17 production Any process that activates or increases the frequency, rate, or extent of production of any member of the interleukin-17 family of cytokines.
positive regulation of interleukin-2 production Any process that activates or increases the frequency, rate, or extent of interleukin-2 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 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 T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation.
positive regulation of T-helper 17 type immune response Any process that activates or increases the frequency, rate or extent of T-helper 17 type immune response.
positive regulation of T-helper 2 cell activation Any process that activates or increases the frequency, rate or extent of T-helper 2 cell activation.
positive regulation of telomerase activity Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
positive regulation of telomere capping Any process that activates or increases the frequency, rate or extent of telomere capping.
positive regulation of telomere maintenance via telomerase Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
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.

41 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P24583 PKC1 Protein kinase C-like 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) SS
A1A4I4 PKN1 Serine/threonine-protein kinase N1 Bos taurus (Bovine) SS
A1Z7T0 Pkn Serine/threonine-protein kinase N Drosophila melanogaster (Fruit fly) SS
P83099 Pkcdelta Putative protein kinase C delta type homolog Drosophila melanogaster (Fruit fly) PR
Q96LW2 RSKR Ribosomal protein S6 kinase-related protein Homo sapiens (Human) PR
O15530 PDPK1 3-phosphoinositide-dependent protein kinase 1 Homo sapiens (Human) EV
Q05513 PRKCZ Protein kinase C zeta type Homo sapiens (Human) SS
P41743 PRKCI Protein kinase C iota type Homo sapiens (Human) EV
Q16512 PKN1 Serine/threonine-protein kinase N1 Homo sapiens (Human) EV
Q6P5Z2 PKN3 Serine/threonine-protein kinase N3 Homo sapiens (Human) SS
Q16513 PKN2 Serine/threonine-protein kinase N2 Homo sapiens (Human) EV
P24723 PRKCH Protein kinase C eta type Homo sapiens (Human) SS
Q02156 PRKCE Protein kinase C epsilon type Homo sapiens (Human) SS
Q05655 PRKCD Protein kinase C delta type Homo sapiens (Human) SS
P17252 PRKCA Protein kinase C alpha type Homo sapiens (Human) EV
P05129 PRKCG Protein kinase C gamma type Homo sapiens (Human) SS
P05771 PRKCB Protein kinase C beta type Homo sapiens (Human) SS
P31751 AKT2 RAC-beta serine/threonine-protein kinase Homo sapiens (Human) EV SS
P31749 AKT1 RAC-alpha serine/threonine-protein kinase Homo sapiens (Human) EV
Q9Y243 AKT3 RAC-gamma serine/threonine-protein kinase Homo sapiens (Human) SS
Q96BR1 SGK3 Serine/threonine-protein kinase Sgk3 Homo sapiens (Human) SS
Q9HBY8 SGK2 Serine/threonine-protein kinase Sgk2 Homo sapiens (Human) SS
O00141 SGK1 Serine/threonine-protein kinase Sgk1 Homo sapiens (Human) PR
Q15208 STK38 Serine/threonine-protein kinase 38 Homo sapiens (Human) EV
Q9Y2H1 STK38L Serine/threonine-protein kinase 38-like Homo sapiens (Human) EV
Q6A1A2 PDPK2P Putative 3-phosphoinositide-dependent protein kinase 2 Homo sapiens (Human) PR
P70268 Pkn1 Serine/threonine-protein kinase N1 Mus musculus (Mouse) SS
P23298 Prkch Protein kinase C eta type Mus musculus (Mouse) PR
Q8BWW9 Pkn2 Serine/threonine-protein kinase N2 Mus musculus (Mouse) SS
Q8K045 Pkn3 Serine/threonine-protein kinase N3 Mus musculus (Mouse) SS
P16054 Prkce Protein kinase C epsilon type Mus musculus (Mouse) PR
P28867 Prkcd Protein kinase C delta type Mus musculus (Mouse) PR
Q02111 Prkcq Protein kinase C theta type Mus musculus (Mouse) PR
Q63433 Pkn1 Serine/threonine-protein kinase N1 Rattus norvegicus (Rat) SS
Q64617 Prkch Protein kinase C eta type Rattus norvegicus (Rat) PR
P09216 Prkce Protein kinase C epsilon type Rattus norvegicus (Rat) PR
P09215 Prkcd Protein kinase C delta type Rattus norvegicus (Rat) PR
O08874 Pkn2 Serine/threonine-protein kinase N2 Rattus norvegicus (Rat) SS
P34722 tpa-1 Protein kinase C-like 1 Caenorhabditis elegans PR
Q9SUA3 D6PKL1 Serine/threonine-protein kinase D6PKL1 Arabidopsis thaliana (Mouse-ear cress) PR
A7MBL8 pkn2 Serine/threonine-protein kinase N2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MSPFLRIGLS NFDCGSCQSC QGEAVNPYCA VLVKEYVESE NGQMYIQKKP TMYPPWDSTF
70 80 90 100 110 120
DAHINKGRVM QIIVKGKNVD LISETTVELY SLAERCRKNN GKTEIWLELK PQGRMLMNAR
130 140 150 160 170 180
YFLEMSDTKD MNEFETEGFF ALHQRRGAIK QAKVHHVKCH EFTATFFPQP TFCSVCHEFV
190 200 210 220 230 240
WGLNKQGYQC RQCNAAIHKK CIDKVIAKCT GSAINSRETM FHKERFKIDM PHRFKVYNYK
250 260 270 280 290 300
SPTFCEHCGT LLWGLARQGL KCDACGMNVH HRCQTKVANL CGINQKLMAE ALAMIESTQQ
310 320 330 340 350 360
ARCLRDTEQI FREGPVEIGL PCSIKNEARP PCLPTPGKRE PQGISWESPL DEVDKMCHLP
370 380 390 400 410 420
EPELNKERPS LQIKLKIEDF ILHKMLGKGS FGKVFLAEFK KTNQFFAIKA LKKDVVLMDD
430 440 450 460 470 480
DVECTMVEKR VLSLAWEHPF LTHMFCTFQT KENLFFVMEY LNGGDLMYHI QSCHKFDLSR
490 500 510 520 530 540
ATFYAAEIIL GLQFLHSKGI VYRDLKLDNI LLDKDGHIKI ADFGMCKENM LGDAKTNTFC
550 560 570 580 590 600
GTPDYIAPEI LLGQKYNHSV DWWSFGVLLY EMLIGQSPFH GQDEEELFHS IRMDNPFYPR
610 620 630 640 650 660
WLEKEAKDLL VKLFVREPEK RLGVRGDIRQ HPLFREINWE ELERKEIDPP FRPKVKSPFD
670 680 690 700
CSNFDKEFLN EKPRLSFADR ALINSMDQNM FRNFSFMNPG MERLIS