Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

209-237 (Activation loop from InterPro)

Target domain

63-337 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

2 structures for Q9UEW8

Entry ID Method Resolution Chain Position Source
7O86 X-ray 173 A A/B 441-545 PDB
AF-Q9UEW8-F1 Predicted AlphaFoldDB

319 variants for Q9UEW8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs774637794
CA1949290
2 A>E No ClinGen
ExAC
gnomAD
rs774637794
CA349253877
2 A>V No ClinGen
ExAC
gnomAD
rs1238134942
CA349253870
3 E>D No ClinGen
TOPMed
gnomAD
CA349253866
rs1376804558
4 P>S No ClinGen
gnomAD
rs573383297
CA1949284
6 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747014948
CA1949286
6 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1949285
rs747014948
6 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs771911950
CA1949283
8 P>L No ClinGen
ExAC
gnomAD
rs1196032004
CA349253838
9 V>L No ClinGen
TOPMed
CA1949279
rs748780606
12 Q>H No ClinGen
ExAC
gnomAD
CA1949280
rs553432668
12 Q>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1161078101
CA349253780
13 L>V No ClinGen
TOPMed
CA1949278
rs777494391
14 P>S No ClinGen
ExAC
gnomAD
CA349253752
rs1377908701
15 Q>E No ClinGen
gnomAD
RCV000332811
rs886043154
19 P>missing No ClinVar
dbSNP
rs767710354
CA1949274
21 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs767710354
CA349253692
21 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1458623915
CA349253686
22 A>G No ClinGen
gnomAD
rs755401292
CA1949272
23 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1949264
rs751683808
28 P>A No ClinGen
ExAC
gnomAD
rs766564588
CA1949263
29 A>S No ClinGen
ExAC
rs966503981
CA60478713
31 A>V No ClinGen
TOPMed
CA349253634
rs1475321276
32 T>A No ClinGen
TOPMed
CA349253610
rs1341491428
36 A>T No ClinGen
Ensembl
CA349253604
rs1289326148
37 P>S No ClinGen
TOPMed
rs893597474
CA60478710
39 A>V No ClinGen
TOPMed
gnomAD
CA349253582
rs1357516694
40 P>L No ClinGen
TOPMed
rs200509268
CA60478708
41 A>P No ClinGen
Ensembl
rs1288010117
CA349253572
42 A>G No ClinGen
TOPMed
rs1241658118
CA349253569
43 P>A No ClinGen
TOPMed
rs1353134476
CA349253567
43 P>Q No ClinGen
gnomAD
CA60478707
rs1001841887
46 A>T No ClinGen
TOPMed
CA60478706
rs906192180
48 A>P No ClinGen
TOPMed
CA349253540
rs906192180
48 A>S No ClinGen
TOPMed
CA60478705
rs1046616737
50 A>P No ClinGen
TOPMed
CA349253509
rs1311218706
53 A>S No ClinGen
gnomAD
CA349253506
rs1377642110
53 A>V No ClinGen
TOPMed
gnomAD
rs1339842885
CA349253502
54 V>D No ClinGen
gnomAD
rs1240752153
CA349253503
54 V>F No ClinGen
gnomAD
CA349253498
rs765358308
55 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA1949257
rs765358308
55 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1402310727
CA349253486
56 W>C No ClinGen
gnomAD
CA349253483
rs1297124211
57 P>S No ClinGen
gnomAD
rs760545362
CA1949256
59 C>F No ClinGen
ExAC
gnomAD
rs1266405443
CA349253454
61 D>G No ClinGen
TOPMed
CA60478703
rs908699963
63 Y>F No ClinGen
TOPMed
rs1160865296
CA349253443
63 Y>H No ClinGen
gnomAD
rs1368455704
CA349253430
64 E>D No ClinGen
gnomAD
CA349253437
rs1440842849
64 E>K No ClinGen
TOPMed
gnomAD
CA349253436
rs1440842849
64 E>Q No ClinGen
TOPMed
gnomAD
CA349253420
rs1186069176
66 Q>R No ClinGen
gnomAD
rs1574593403
CA349253403
68 V>G No ClinGen
Ensembl
CA349253400
rs1168047946
69 I>F No ClinGen
TOPMed
rs1193098128
CA349252923
70 G>D No ClinGen
gnomAD
TCGA novel 70 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349252921
rs1476964044
71 S>G No ClinGen
gnomAD
TCGA novel 80 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202247725
CA349252858
81 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1450758561
CA349252844
83 K>E No ClinGen
TOPMed
gnomAD
CA349252845
rs1450758561
83 K>Q No ClinGen
TOPMed
gnomAD
rs200276483
CA60471233
84 P>L No ClinGen
gnomAD
rs1287509646
CA349252837
84 P>S No ClinGen
gnomAD
rs201828648
CA60471232
85 R>G No ClinGen
Ensembl
rs1216318729
CA349252814
87 E>G No ClinGen
gnomAD
CA349252817
rs1256864510
87 E>Q No ClinGen
gnomAD
CA60471231
rs201006515
88 R>C No ClinGen
gnomAD
COSM377583
COSM377584
rs370455370
CA1949242
88 R>H lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA60471229
rs199899584
90 A>V No ClinGen
Ensembl
rs758605523
CA1949240
91 I>V No ClinGen
ExAC
gnomAD
CA60471227
rs201730893
93 R>Q No ClinGen
Ensembl
CA60471228
rs769314682
93 R>W No ClinGen
Ensembl
CA349252767
rs1407541843
95 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 98 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201221907
CA1949239
100 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1464080076
CA349252714
102 S>N No ClinGen
gnomAD
CA349252710
rs1425882337
103 M>V No ClinGen
gnomAD
CA60471223
rs954473269
104 D>E No ClinGen
TOPMed
rs1187292608
CA349252702
104 D>H No ClinGen
TOPMed
gnomAD
rs1187292608
CA349252701
104 D>N No ClinGen
TOPMed
gnomAD
CA349252287
rs1280232976
108 K>E No ClinGen
gnomAD
CA349252267
rs1219457311
110 I>S No ClinGen
gnomAD
rs995248971
CA60469592
111 Q>R No ClinGen
Ensembl
rs1309017650
CA349252251
113 M>V No ClinGen
gnomAD
rs199693195
CA1949216
COSM1009065
COSM1009064
121 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1447312073
CA349252175
123 T>N No ClinGen
gnomAD
rs1357505871
CA349252163
125 Y>H No ClinGen
gnomAD
CA349252149
rs1294758361
127 S>T No ClinGen
gnomAD
rs201746945
CA60469591
135 W>R No ClinGen
Ensembl
rs1433759725
CA349252068
138 M>I No ClinGen
gnomAD
rs1286074971
CA349252008
145 S>* No ClinGen
gnomAD
TCGA novel 145 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349252006
rs1415590857
146 M>V No ClinGen
TOPMed
gnomAD
CA1949206
rs747479174
149 I>V No ClinGen
ExAC
gnomAD
CA349251917
rs1574517653
152 Y>N No ClinGen
Ensembl
CA349251898
rs1296099523
153 I>V No ClinGen
TOPMed
gnomAD
rs772371090
CA1949204
156 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs376136352
CA349251843
156 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376136352
COSM1009060
COSM1009061
CA1949203
156 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA60469252
rs202246318
159 H>Q No ClinGen
TOPMed
TCGA novel 160 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757491102
CA349251765
161 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA1949201
rs757491102
161 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA349251740
rs1477288860
163 V>F No ClinGen
gnomAD
CA349251744
rs1477288860
163 V>I No ClinGen
gnomAD
TCGA novel 164 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349251688
rs1261697990
167 A>E No ClinGen
gnomAD
TCGA novel 167 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200991167
CA1949199
167 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM571143
rs756179998
CA1949198
168 I>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs751493627
CA1949197
170 A>S No ClinGen
ExAC
gnomAD
rs1405632029
CA349251664
171 T>I No ClinGen
TOPMed
CA1949196
rs200424635
172 I>V No ClinGen
ExAC
gnomAD
CA60469250
rs375334316
174 K>R No ClinGen
ESP
TCGA novel 175 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349251593
rs1477612129
181 D>E No ClinGen
TOPMed
gnomAD
CA60469248
COSM1305822
rs201338418
COSM1305821
182 Y>C lung NS urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
CA349251561
rs1339950448
186 N>S No ClinGen
gnomAD
CA349251557
rs201684592
187 G>C No ClinGen
ExAC
gnomAD
COSM1266944
COSM1266945
CA1949194
rs201684592
187 G>S Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA349251550
rs1311483244
188 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1357790058
CA349251528
190 H>R No ClinGen
TOPMed
TCGA novel 191 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349251319
rs1300329889
198 I>F No ClinGen
TOPMed
gnomAD
rs1300329889
CA349251320
198 I>V No ClinGen
TOPMed
gnomAD
rs1330422220
CA349254745
214 S>R No ClinGen
gnomAD
rs1174705830
CA349254739
215 A>V No ClinGen
TOPMed
gnomAD
rs200906112
CA60466707
221 G>A No ClinGen
ExAC
gnomAD
CA1949156
rs200906112
221 G>D No ClinGen
ExAC
gnomAD
CA1949157
rs200257510
221 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA60466705
rs200027661
225 R>* No ClinGen
TOPMed
gnomAD
CA60466706
rs200027661
225 R>G No ClinGen
TOPMed
gnomAD
rs1486798835
CA349254643
231 T>A No ClinGen
gnomAD
rs745760424
CA1949154
233 V>I No ClinGen
ExAC
gnomAD
rs1351251071
CA349254622
234 G>D No ClinGen
gnomAD
CA60466704
rs201333511
COSM1726454
COSM1726455
239 M>I liver [Cosmic] No ClinGen
cosmic curated
Ensembl
CA349254539
rs1574496975
246 Q>K No ClinGen
Ensembl
CA1949130
rs749264154
248 R>I No ClinGen
ExAC
gnomAD
rs755937393
CA1949128
250 Y>C No ClinGen
ExAC
gnomAD
rs777480578
CA1949129
250 Y>D No ClinGen
ExAC
gnomAD
TCGA novel 253 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349254467
rs1193722367
254 A>S No ClinGen
gnomAD
CA349254421
rs1284277301
260 G>R No ClinGen
gnomAD
CA349254403
rs1374535691
262 T>I No ClinGen
gnomAD
CA349254371
rs1265109083
267 A>V No ClinGen
TOPMed
gnomAD
CA1949125
rs754666662
271 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1949123
rs765973701
274 H>Y No ClinGen
ExAC
gnomAD
CA349254321
rs1216378830
275 K>R No ClinGen
gnomAD
rs763308836
CA1949122
279 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs901718939
CA60466684
280 K>T No ClinGen
TOPMed
CA60466463
rs916396480
283 M>V No ClinGen
Ensembl
rs1414143514
CA349254203
290 P>A No ClinGen
gnomAD
CA1949102
rs757876668
296 G>R No ClinGen
ExAC
gnomAD
rs372899334
CA1949099
297 V>L No ClinGen
ESP
ExAC
gnomAD
rs369314671
CA1949098
298 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1460414130
CA349254145
299 D>A No ClinGen
TOPMed
TCGA novel 301 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1949096
rs767450815
302 M>I No ClinGen
ExAC
gnomAD
rs775815629
CA1949097
302 M>T No ClinGen
ExAC
gnomAD
rs558024642
CA1949094
307 G>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 308 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM134043
rs1285852195
CA349254047
311 R>K skin [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 312 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1258618607
CA349254028
312 K>I No ClinGen
TOPMed
gnomAD
TCGA novel 320 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1949091
rs776354325
321 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs746601162
CA1949089
324 K>R No ClinGen
ExAC
gnomAD
rs771748371
CA1949068
327 T>R No ClinGen
ExAC
gnomAD
CA60465558
rs780056867
330 E>K No ClinGen
TOPMed
gnomAD
rs1559111375
CA349253174
332 L>I No ClinGen
Ensembl
TCGA novel 334 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs911069836
CA349253159
334 C>R No ClinGen
TOPMed
gnomAD
CA349253156
rs1164014837
334 C>S No ClinGen
gnomAD
rs911069836
CA60465557
334 C>S No ClinGen
TOPMed
gnomAD
rs745570599
CA1949067
335 K>Q No ClinGen
ExAC
gnomAD
rs747145300
CA60465556
335 K>R No ClinGen
Ensembl
CA349253108
rs1419431156
341 K>E No ClinGen
gnomAD
rs1559111273
CA349253086
342 N>H No ClinGen
Ensembl
CA349253060
rs1275285562
345 Y>C No ClinGen
Ensembl
rs1370925630
CA349253064
345 Y>N No ClinGen
gnomAD
CA349253047
rs1430623118
347 I>T No ClinGen
gnomAD
rs1193531417
CA349253009
353 R>K No ClinGen
gnomAD
rs1802105
CA60465549
354 T>P No ClinGen
Ensembl
rs1214463284
CA349252998
355 P>A No ClinGen
gnomAD
CA349252994
rs1480358504
355 P>L No ClinGen
gnomAD
rs764061473
CA1949054
356 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA349252990
rs764061473
356 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA1949052
rs775341343
357 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1426461901
CA349252958
361 A>P No ClinGen
TOPMed
TCGA novel 361 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201077678
CA1949040
365 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA1949038
rs750511524
369 G>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 372 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1949037
rs765291388
373 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs752579447
CA349252586
375 H>L No ClinGen
ExAC
gnomAD
CA1949035
rs752579447
375 H>R No ClinGen
ExAC
gnomAD
CA60459513
rs980414959
376 K>E No ClinGen
gnomAD
rs759384781
CA1949033
378 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1362104547
CA349252554
380 G>R No ClinGen
gnomAD
rs768321414
CA60459512
381 D>G No ClinGen
TOPMed
rs1333451147
CA349252547
381 D>N No ClinGen
TOPMed
rs1419883596
CA349252526
383 E>D No ClinGen
gnomAD
TCGA novel 383 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349252512
rs1195351394
385 S>N No ClinGen
TOPMed
gnomAD
CA349252502
rs1186114001
386 D>G No ClinGen
gnomAD
rs769195080
CA1949028
387 D>G No ClinGen
ExAC
gnomAD
CA1949029
rs772724891
387 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA349252493
rs1345491124
388 E>K No ClinGen
TOPMed
rs1239064986
CA349252482
389 M>T No ClinGen
gnomAD
rs777023649
CA1949026
389 M>V No ClinGen
ExAC
gnomAD
rs769197906
CA1949025
390 D>N No ClinGen
ExAC
gnomAD
rs747339900
CA1949024
390 D>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780458695
CA1949023
391 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1357740688
CA349252458
392 K>N No ClinGen
gnomAD
CA1949022
rs201100288
393 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs199943116
CA1949020
394 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754000627
CA1949018
398 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs767531913
CA1949017
398 A>V No ClinGen
ExAC
gnomAD
rs56031549
CA1949016
399 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1949015
rs751387128
401 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA349252390
rs1192275725
403 E>K No ClinGen
gnomAD
CA349252376
rs56697518
404 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753329037
CA1948989
406 R>G No ClinGen
ExAC
gnomAD
CA1948988
rs763607390
406 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs947669343
CA60459504
407 R>K No ClinGen
Ensembl
CA349252349
rs1272326865
407 R>S No ClinGen
gnomAD
CA349252345
rs1459459172
408 V>A No ClinGen
TOPMed
rs201915974
CA60459503
408 V>I No ClinGen
TOPMed
gnomAD
CA349252321
rs1301896796
411 E>D No ClinGen
TOPMed
gnomAD
rs992358171
CA60459502
411 E>Q No ClinGen
Ensembl
CA1948986
rs776007211
413 P>T No ClinGen
ExAC
gnomAD
CA1948985
rs369988565
414 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376856499
CA1948967
415 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 417 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349251493
rs1186816829
418 S>G No ClinGen
gnomAD
rs767907261
CA1948966
420 S>R No ClinGen
ExAC
gnomAD
CA1948962
rs187318954
425 Q>P No ClinGen
1000Genomes
ExAC
gnomAD
rs967406185
CA60458399
426 I>M No ClinGen
TOPMed
rs1222091118
CA349251429
427 Q>P No ClinGen
gnomAD
CA60458398
rs371286172
429 L>V No ClinGen
ESP
TOPMed
CA349251410
rs773594176
430 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA1948960
rs773594176
430 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA349251406
rs1227540627
431 V>A No ClinGen
TOPMed
CA1948959
rs770193318
431 V>L No ClinGen
ExAC
gnomAD
rs748206003
CA1948958
432 H>D No ClinGen
ExAC
gnomAD
CA1948956
rs771887076
433 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA349251397
rs1314561370
433 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA60458397
rs953426929
434 S>C No ClinGen
TOPMed
rs745827456
CA1948955
434 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA1948937
COSM1400976
COSM1400977
rs776513083
438 P>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA349251212
rs776513083
438 P>L No ClinGen
ExAC
gnomAD
rs905930426
CA60458211
439 N>D No ClinGen
TOPMed
gnomAD
CA60458212
rs905930426
439 N>H No ClinGen
TOPMed
gnomAD
rs183634219
CA1948934
439 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs183634219
CA1948935
439 N>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA349251204
rs1419280954
440 A>S No ClinGen
gnomAD
CA349251200
rs1185254919
441 N>D No ClinGen
gnomAD
rs942822043
CA60458210
441 N>I No ClinGen
TOPMed
CA349251197
rs942822043
441 N>S No ClinGen
TOPMed
CA1948932
rs553932507
442 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1948931
rs201012106
443 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA349251178
rs1213082386
444 Y>D No ClinGen
TOPMed
gnomAD
rs1467197996
CA349251171
445 R>G No ClinGen
TOPMed
gnomAD
rs755705794
CA1948930
445 R>K No ClinGen
ExAC
gnomAD
CA349251160
rs1222614397
446 E>V No ClinGen
gnomAD
rs200072066
CA1948929
448 S>A No ClinGen
ExAC
gnomAD
rs191390185
CA1948928
448 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA349251143
rs1365913790
449 S>F No ClinGen
gnomAD
CA1948927
rs201894497
449 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1948925
rs766882116
450 C>S No ClinGen
ExAC
gnomAD
rs371452650
CA1948924
450 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750801957
CA1948923
451 A>V No ClinGen
ExAC
gnomAD
rs762057185
CA1948921
452 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA349251124
rs1443458443
453 N>D No ClinGen
TOPMed
CA349251117
rs1559079429
454 L>V No ClinGen
Ensembl
CA1948919
rs764031679
455 V>I No ClinGen
ExAC
gnomAD
CA349254044
rs1197564622
460 N>D No ClinGen
TOPMed
gnomAD
CA1948903
rs754201506
460 N>S No ClinGen
ExAC
gnomAD
TCGA novel 463 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764344658
CA1948902
463 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA349253971
rs1256833444
465 L>P No ClinGen
Ensembl
rs760864948
CA1948901
466 N>S No ClinGen
ExAC
gnomAD
rs753362711
COSM3670298
CA60453039
COSM3670299
469 R>* central_nervous_system [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1483235189
CA349253946
469 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1948899
rs200294746
471 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1948897
rs773159718
474 P>S No ClinGen
ExAC
gnomAD
CA1948896
rs769776880
475 G>R No ClinGen
ExAC
gnomAD
rs761639622
CA1948895
476 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1300472813
CA349253374
478 T>A No ClinGen
TOPMed
rs1242984484
CA349253352
481 G>D No ClinGen
gnomAD
CA349253349
rs1342669862
482 V>I No ClinGen
gnomAD
rs767537417
CA1948877
493 D>G No ClinGen
ExAC
gnomAD
CA349253262
rs1386509212
495 H>Y No ClinGen
gnomAD
rs1457844606
CA349253255
496 D>N No ClinGen
gnomAD
rs775463188
CA1948852
501 A>G No ClinGen
ExAC
gnomAD
rs767274202
CA1948851
502 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA60447212
rs767274202
502 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA349250589
rs1574349451
504 L>F No ClinGen
Ensembl
rs1259486917
CA349250586
505 Q>* No ClinGen
TOPMed
CA349250558
rs1195518300
509 D>H No ClinGen
gnomAD
rs935846655
CA60447211
513 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs199600350
COSM1400973
CA1948850
COSM1400972
513 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1948834
rs779099780
522 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA349251961
rs1260602424
524 G>V No ClinGen
TOPMed
CA1948832
rs541206860
525 C>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 525 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA60446199
rs541206860
525 C>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs541206860
CA1948833
525 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751196398
CA1948831
526 D>N No ClinGen
ExAC
gnomAD
CA1948830
rs762341266
528 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762341266
CA1948829
528 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA349251902
rs1283704632
529 E>D No ClinGen
gnomAD
rs776910728
CA1948825
535 K>R No ClinGen
ExAC
gnomAD
CA349251815
rs1158204214
537 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA60446198
rs999421278
539 F>S No ClinGen
gnomAD
CA349251771
rs1285856193
541 Q>* No ClinGen
gnomAD
rs1344086024
CA349251751
542 L>F No ClinGen
gnomAD
TCGA novel 542 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA349251753
rs1238519102
542 L>W No ClinGen
gnomAD
CA349251710
rs1318020616
545 S>R No ClinGen
gnomAD

No associated diseases with Q9UEW8

3 regional properties for Q9UEW8

Type Name Position InterPro Accession
domain Protein kinase domain 63 - 337 IPR000719
binding_site Protein kinase, ATP binding site 69 - 92 IPR017441
domain Serine/threonine-protein kinase OSR1/WNK, CCT domain 452 - 509 IPR024678

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Nucleus when caspase-cleaved
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extrinsic component of membrane The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
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 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.

28 GO annotations of biological process

Name Definition
cellular chloride ion homeostasis Any process involved in the maintenance of an internal steady state of chloride ions at the level of a cell.
cellular hypotonic response 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 detection of, or exposure to, a hypotonic environment, i.e. an environment with a lower concentration of solutes than the organism or cell.
cellular response to chemokine 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 chemokine stimulus.
cellular response to potassium ion 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 potassium ion stimulus.
chemokine (C-X-C motif) ligand 12 signaling pathway The series of molecular signals initiated by the binding of the chemokine CXCL12 to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
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.
macrophage activation A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
maintenance of lens transparency A homeostatic process in which the lens is maintained in a highly refractive, transparent state to allow for optimal focusing of light on the retina.
negative regulation of creatine transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of creatine transmembrane transporter activity.
negative regulation of pancreatic juice secretion Any process that decreases the rate, frequency or extent of pancreatic juice secretion, the regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine.
negative regulation of potassium ion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transport.
negative regulation of potassium ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transporter activity.
negative regulation of sodium ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion transmembrane transporter activity.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of ion transmembrane transporter activity Any process that activates or increases the activity of an ion transporter.
positive regulation of p38MAPK cascade Any process that activates or increases the frequency, rate or extent of p38MAPK cascade.
positive regulation of potassium ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of T cell chemotaxis Any process that increases the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus.
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 phosphorylation The process of introducing a phosphate group on to a protein.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
response to aldosterone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.
response to dietary excess The physiological process in which dietary excess is sensed by the central nervous system, resulting in a reduction in food intake and increased energy expenditure.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
sodium ion transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9C0K7 STRADB STE20-related kinase adapter protein beta Homo sapiens (Human) PR
Q7RTN6 STRADA STE20-related kinase adapter protein alpha Homo sapiens (Human) PR
Q9H2G2 SLK STE20-like serine/threonine-protein kinase Homo sapiens (Human) PR
O94804 STK10 Serine/threonine-protein kinase 10 Homo sapiens (Human) PR
O95747 OXSR1 Serine/threonine-protein kinase OSR1 Homo sapiens (Human) PR
Q9Y4K4 MAP4K5 Mitogen-activated protein kinase kinase kinase kinase 5 Homo sapiens (Human) PR
Q92918 MAP4K1 Mitogen-activated protein kinase kinase kinase kinase 1 Homo sapiens (Human) EV
Q12851 MAP4K2 Mitogen-activated protein kinase kinase kinase kinase 2 Homo sapiens (Human) EV
Q8IVH8 MAP4K3 Mitogen-activated protein kinase kinase kinase kinase 3 Homo sapiens (Human) SS
Q9P289 STK26 Serine/threonine-protein kinase 26 Homo sapiens (Human) PR
Q9Y6E0 STK24 Serine/threonine-protein kinase 24 Homo sapiens (Human) PR
O00506 STK25 Serine/threonine-protein kinase 25 Homo sapiens (Human) PR
Q8K4T3 Stradb STE20-related kinase adapter protein beta Mus musculus (Mouse) PR
Q3UUJ4 Strada STE20-related kinase adapter protein alpha Mus musculus (Mouse) PR
Q6P9R2 Oxsr1 Serine/threonine-protein kinase OSR1 Mus musculus (Mouse) PR
Q9Z1W9 Stk39 STE20/SPS1-related proline-alanine-rich protein kinase Mus musculus (Mouse) PR
Q863I2 OXSR1 Serine/threonine-protein kinase OSR1 Sus scrofa (Pig) PR
Q7TNZ6 Strada STE20-related kinase adapter protein alpha Rattus norvegicus (Rat) PR
O88506 Stk39 STE20/SPS1-related proline-alanine-rich protein kinase Rattus norvegicus (Rat) PR
O23304 BLUS1 Serine/threonine-protein kinase BLUS1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAEPSGSPVH VQLPQQAAPV TAAAAAAPAA ATAAPAPAAP AAPAPAPAPA AQAVGWPICR
70 80 90 100 110 120
DAYELQEVIG SGATAVVQAA LCKPRQERVA IKRINLEKCQ TSMDELLKEI QAMSQCSHPN
130 140 150 160 170 180
VVTYYTSFVV KDELWLVMKL LSGGSMLDII KYIVNRGEHK NGVLEEAIIA TILKEVLEGL
190 200 210 220 230 240
DYLHRNGQIH RDLKAGNILL GEDGSVQIAD FGVSAFLATG GDVTRNKVRK TFVGTPCWMA
250 260 270 280 290 300
PEVMEQVRGY DFKADMWSFG ITAIELATGA APYHKYPPMK VLMLTLQNDP PTLETGVEDK
310 320 330 340 350 360
EMMKKYGKSF RKLLSLCLQK DPSKRPTAAE LLKCKFFQKA KNREYLIEKL LTRTPDIAQR
370 380 390 400 410 420
AKKVRRVPGS SGHLHKTEDG DWEWSDDEMD EKSEEGKAAF SQEKSRRVKE ENPEIAVSAS
430 440 450 460 470 480
TIPEQIQSLS VHDSQGPPNA NEDYREASSC AVNLVLRLRN SRKELNDIRF EFTPGRDTAD
490 500 510 520 530 540
GVSQELFSAG LVDGHDVVIV AANLQKIVDD PKALKTLTFK LASGCDGSEI PDEVKLIGFA
QLSVS