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

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q15172

Entry ID Method Resolution Chain Position Source
6NTS EM 363 A B 1-486 PDB
AF-Q15172-F1 Predicted AlphaFoldDB

282 variants for Q15172

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1242389317
CA344885615
2 S>A No ClinGen
TOPMed
rs759946224
CA1383438
2 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1435988405
CA344885623
3 S>L No ClinGen
gnomAD
TCGA novel 5 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866673374
CA37246403
5 S>P No ClinGen
TOPMed
rs1558135638
CA344885637
6 P>S No ClinGen
Ensembl
CA37246404
rs1002847154
7 P>L No ClinGen
gnomAD
rs1324894825
CA344885648
8 A>S No ClinGen
TOPMed
CA344885655
rs1467540062
9 G>E No ClinGen
gnomAD
CA344885659
rs1257977138
10 A>T No ClinGen
TOPMed
rs753173935
CA1383441
11 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1015768432
CA37246405
12 S>G No ClinGen
Ensembl
rs867673779
CA37246406
12 S>R No ClinGen
Ensembl
CA1383442
rs758450872
12 S>T No ClinGen
ExAC
CA344885674
rs1404677156
13 A>T No ClinGen
gnomAD
CA1383443
rs777724403
13 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA37246407
rs866711977
16 S>* No ClinGen
gnomAD
CA344885696
rs866711977
16 S>L No ClinGen
gnomAD
rs745634075
CA1383447
18 S>W No ClinGen
ExAC
gnomAD
CA344885712
rs1460914404
19 E>G No ClinGen
gnomAD
rs1201917147
CA344885729
21 V>G No ClinGen
gnomAD
rs1250133679
CA344885736
22 D>E No ClinGen
TOPMed
gnomAD
rs1450336837
CA344885739
23 G>R No ClinGen
gnomAD
rs779994978
CA1383449
24 F>L No ClinGen
ExAC
gnomAD
CA344885763
rs1168204845
27 K>Q No ClinGen
TOPMed
rs1411193203
CA344885774
28 S>W No ClinGen
TOPMed
rs749196942
CA1383450
30 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344885783
rs749196942
30 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs768146082
CA1383451
30 R>L No ClinGen
ExAC
gnomAD
rs773733633
CA1383452
31 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA1383453
rs536847573
32 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs996038513
CA344885799
33 Q>* No ClinGen
TOPMed
gnomAD
rs996038513
CA37246409
33 Q>K No ClinGen
TOPMed
gnomAD
rs1288614821
CA344885802
33 Q>L No ClinGen
TOPMed
gnomAD
CA344885805
rs1221346275
34 R>G No ClinGen
gnomAD
rs1246927856
CA344885807
34 R>K No ClinGen
gnomAD
CA1383454
rs771692473
35 Q>K No ClinGen
ExAC
gnomAD
CA344885831
rs1238156341
37 R>L No ClinGen
TOPMed
rs868609509
CA37246410
37 R>S No ClinGen
TOPMed
rs765539889
CA1383457
39 Q>P No ClinGen
ExAC
gnomAD
CA1383458
rs776003767
40 G>D No ClinGen
ExAC
gnomAD
CA344885845
rs1465479679
40 G>S No ClinGen
gnomAD
CA344885853
rs1240627208
41 S>L No ClinGen
gnomAD
rs1191625387
CA344885863
43 Q>* No ClinGen
gnomAD
rs764729691
CA1383460
45 R>C No ClinGen
ExAC
gnomAD
rs1479424247
CA344885882
45 R>L No ClinGen
TOPMed
gnomAD
rs1399657182
CA344885899
48 G>S No ClinGen
gnomAD
CA344885911
rs1351321959
49 S>R No ClinGen
gnomAD
rs1439049401
CA344885914
50 Q>E No ClinGen
gnomAD
TCGA novel 50 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA37246413
rs866190911
51 A>E No ClinGen
gnomAD
CA344885924
rs866190911
51 A>V No ClinGen
gnomAD
rs75232123
CA1383466
55 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs977767402
CA37246414
55 P>L No ClinGen
gnomAD
rs1221955101
CA344885974
59 L>P No ClinGen
gnomAD
rs199996030
CA1383483
61 D>G No ClinGen
ESP
ExAC
gnomAD
CA37250925
rs141270790
62 A>D No ClinGen
ESP
gnomAD
rs949285552
CA37250924
62 A>P No ClinGen
TOPMed
CA344886842
rs1158162163
63 T>S No ClinGen
gnomAD
CA344886854
rs1193969423
65 N>D No ClinGen
gnomAD
CA1383484
rs767719968
65 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA37250926
rs1046244917
66 E>D No ClinGen
TOPMed
rs771923439 68 Q>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs750606106
CA1383486
69 E>* No ClinGen
ExAC
gnomAD
rs1558148963
CA344886908
72 C>F No ClinGen
Ensembl
CA1383487
rs756286291
73 Q>H No ClinGen
ExAC
gnomAD
rs766685836
CA1383488
76 Q>E No ClinGen
ExAC
gnomAD
CA344886947
rs1475315719
77 Q>H No ClinGen
gnomAD
CA344886941
rs1374022737
77 Q>K No ClinGen
gnomAD
CA1383489
rs753556980
79 C>Y No ClinGen
ExAC
gnomAD
CA1383490
rs754844288
80 I>V No ClinGen
ExAC
gnomAD
CA344886987
rs1404112253
83 D>G No ClinGen
gnomAD
CA37250927
rs922667117
85 M>L No ClinGen
Ensembl
TCGA novel 87 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344887015
rs1571597343
87 S>P No ClinGen
Ensembl
CA344887058
rs1319271158
93 S>N No ClinGen
gnomAD
rs113571279
CA344887077
95 E>D No ClinGen
TOPMed
CA1383491
rs371438723
96 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1276538036
CA344887086
97 K>E No ClinGen
gnomAD
TCGA novel 98 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748103080
CA1383492
99 A>T No ClinGen
ExAC
gnomAD
rs374962053
CA37250931
100 T>I No ClinGen
ESP
TOPMed
gnomAD
rs374962053
CA37250930
100 T>K No ClinGen
ESP
TOPMed
gnomAD
CA344887121
rs1194137862
102 N>K No ClinGen
TOPMed
rs866356975
CA37250932
106 E>* No ClinGen
Ensembl
rs757843672
CA1383493
107 Y>F No ClinGen
ExAC
gnomAD
CA344887148
rs1205322898
107 Y>N No ClinGen
gnomAD
TCGA novel 108 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1383494
rs777266097
112 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344887202
rs1185563281
115 I>T No ClinGen
TOPMed
CA1383495
rs746596004
119 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs776392856
CA1383497
121 S>F No ClinGen
ExAC
gnomAD
rs1237499018
CA344887247
122 D>G No ClinGen
TOPMed
CA344887244
rs1175746482
122 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344887256
rs1458927396
123 I>M No ClinGen
gnomAD
rs184178657
CA1383498
123 I>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 124 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 126 M>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs911610042
CA37251385
133 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs202004074
CA37251386
134 T>I No ClinGen
1000Genomes
gnomAD
CA1383520
rs779415573
136 P>S No ClinGen
ExAC
TOPMed
CA37251387
rs878872531
138 S>G No ClinGen
Ensembl
rs748582305
CA1383521
141 P>T No ClinGen
ExAC
gnomAD
CA1383524
rs182683116
151 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1383522
rs182683116
151 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182683116
CA1383523
151 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344887475
rs1481912761
154 A>T No ClinGen
gnomAD
rs1196405048
CA344887480
154 A>V No ClinGen
TOPMed
gnomAD
rs1374526182
CA344887494
156 W>C No ClinGen
TOPMed
rs1185631390
CA344887511
159 I>V No ClinGen
gnomAD
CA344887523
TCGA novel
rs1386158224
160 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA344762761
rs1169634665
162 V>L No ClinGen
gnomAD
rs778096953
CA1383541
164 E>D No ClinGen
ExAC
gnomAD
CA1383542
rs747560993
172 S>N No ClinGen
ExAC
gnomAD
rs1450048800
CA344763117
173 P>A No ClinGen
gnomAD
rs17852039
CA36814478
176 Q>R No ClinGen
Ensembl
CA344763238
rs1290304600
178 S>G No ClinGen
gnomAD
CA344763243
rs1364493497
178 S>N No ClinGen
gnomAD
CA1383544
rs776766301
179 I>T No ClinGen
ExAC
gnomAD
rs1306274604
CA344763298
180 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344763311
rs1225367278
181 K>E No ClinGen
gnomAD
CA1383545
rs192765953
182 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA36814493
rs965269011
183 Y>C No ClinGen
Ensembl
CA36814497
rs369698862
184 I>V No ClinGen
ESP
TOPMed
CA1383546
rs374082551
185 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374082551
CA344763381
185 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374082551
CA1383547
185 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1774249
CA344763473
188 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1383550
rs147962315
189 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147962315
CA1383551
189 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA36814556
rs931751731
191 Q>* No ClinGen
TOPMed
gnomAD
CA344763522
rs931751731
191 Q>K No ClinGen
TOPMed
gnomAD
rs373523104
CA1383571
194 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344764592
rs1358993216
197 D>G No ClinGen
TOPMed
gnomAD
CA1383573
rs765582793
204 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 205 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 206 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344764684
rs1195585084
210 V>A No ClinGen
TOPMed
gnomAD
CA344764685
rs1195585084
210 V>G No ClinGen
TOPMed
gnomAD
CA36817186
rs942433088
210 V>L No ClinGen
TOPMed
CA344764701
rs1281369362
213 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA36817189
rs143781873
215 Y>H No ClinGen
ESP
TOPMed
gnomAD
CA1383576
rs764853636
216 G>R No ClinGen
ExAC
gnomAD
rs1435143688
CA344764756
221 L>F No ClinGen
gnomAD
CA1383578
rs757601495
223 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA344764765
rs1386418221
223 A>T No ClinGen
TOPMed
rs1295337355
CA344764785
226 R>* No ClinGen
TOPMed
CA1383579
rs781693767
227 K>E No ClinGen
ExAC
gnomAD
rs886638175
CA36817243
228 Q>H No ClinGen
Ensembl
rs780103900
CA1383583
232 I>T No ClinGen
ExAC
gnomAD
CA344764849
rs1386773347
235 R>G No ClinGen
gnomAD
CA344764850
rs1386773347
235 R>W No ClinGen
gnomAD
rs766701370
CA36818501
237 I>V No ClinGen
Ensembl
CA344764902
rs1409448654
240 T>I No ClinGen
gnomAD
CA344764928
rs1329458838
244 N>H No ClinGen
gnomAD
CA344764939
rs1408543591
245 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1336354749
CA344764971
249 L>I No ClinGen
gnomAD
TCGA novel 251 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344765026
rs1243707756
253 L>F No ClinGen
TOPMed
CA344765113
rs1398030746
256 I>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 262 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1285441380
CA344765418
275 V>A No ClinGen
gnomAD
rs778938337
CA36819298
277 I>T No ClinGen
Ensembl
CA1383629
rs778186085
279 M>T No ClinGen
ExAC
gnomAD
TCGA novel 279 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1192067111
CA344765545
282 A>T No ClinGen
gnomAD
CA344765562
rs1166597031
283 K>E No ClinGen
TOPMed
TCGA novel 284 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344765582
rs1558153771
284 G>R No ClinGen
Ensembl
CA1383630
rs140243249
286 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs563230469
CA1383631
287 L>S No ClinGen
1000Genomes
ExAC
gnomAD
rs781225971
CA1383632
289 H>P No ClinGen
ExAC
gnomAD
rs781225971
CA344765679
289 H>R No ClinGen
ExAC
gnomAD
CA1383633
rs745804683
290 A>T No ClinGen
ExAC
gnomAD
CA1383634
rs769280608
290 A>V No ClinGen
ExAC
gnomAD
CA344765715
rs1571608941
291 Q>R No ClinGen
Ensembl
CA344766444
rs1571609414
304 T>I No ClinGen
Ensembl
CA344766437
rs1352421705
304 T>S No ClinGen
TOPMed
rs758587827
CA1383648
309 P>L No ClinGen
ExAC
gnomAD
rs550743255
CA36825222
310 V>L No ClinGen
gnomAD
rs550743255
CA344768262
310 V>M No ClinGen
gnomAD
rs766203588
CA1383694
312 R>G No ClinGen
ExAC
gnomAD
CA344768290
rs1269590169
313 G>R No ClinGen
TOPMed
rs1558156458
CA344768358
317 F>C No ClinGen
Ensembl
CA1383696
rs377097219
321 T>I No ClinGen
ESP
ExAC
gnomAD
CA36825232
rs528269132
322 C>Y No ClinGen
1000Genomes
TCGA novel 323 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs942654759
CA36825488
327 V>M No ClinGen
Ensembl
TCGA novel 330 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1383720
rs763662131
333 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA344768733
rs1325626424
337 L>F No ClinGen
Ensembl
rs1172688487
CA344768739
338 D>A No ClinGen
gnomAD
TCGA novel 338 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401263874
CA344768747
339 V>I No ClinGen
gnomAD
CA1383723
rs149320403
340 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs79437056
CA36825506
345 F>L No ClinGen
Ensembl
CA344768858
rs1213717489
347 K>N No ClinGen
gnomAD
rs1257756350
CA344768867
348 I>T No ClinGen
gnomAD
rs1384652302
CA344768872
349 E>K No ClinGen
gnomAD
rs1384604197
CA344768885
350 E>Q No ClinGen
TOPMed
CA344768916
rs1179866637
353 F>L No ClinGen
TOPMed
CA1383724
rs749630804
356 I>V No ClinGen
ExAC
gnomAD
CA344768972
rs1558156615
357 S>F No ClinGen
Ensembl
CA1383725
rs755416936
358 K>R No ClinGen
ExAC
gnomAD
CA1383728
rs772523863
361 S>A No ClinGen
ExAC
rs1051500380
CA36825535
363 S>F No ClinGen
TOPMed
CA344769076
rs1333319637
367 V>I No ClinGen
gnomAD
rs1432755922
CA344769132
371 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1278787806
CA344769153
372 L>F No ClinGen
gnomAD
rs751057246
CA1383740
377 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA344769239
rs1216332203
377 N>S No ClinGen
gnomAD
CA1383741
rs756757799
378 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA344769296
rs1278312752
380 I>T No ClinGen
gnomAD
rs767231100
CA1383742
382 S>R No ClinGen
ExAC
gnomAD
CA1383744
rs750115208
384 I>T No ClinGen
ExAC
gnomAD
rs970868939
CA36825724
388 I>L No ClinGen
TOPMed
gnomAD
CA344769434
rs1379566913
388 I>T No ClinGen
gnomAD
CA344769432
rs970868939
388 I>V No ClinGen
TOPMed
gnomAD
CA1383746
rs779417635
389 D>G No ClinGen
ExAC
gnomAD
rs17852038
CA36825726
389 D>N No ClinGen
Ensembl
TCGA novel 390 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344769530
rs1177604596
395 M>I No ClinGen
gnomAD
rs1399726705
CA344769529
395 M>T No ClinGen
gnomAD
rs1172240206
CA344769516
395 M>V No ClinGen
gnomAD
CA344769546
rs1298658905
397 A>S No ClinGen
gnomAD
rs1157798977
CA344769558
398 S>R No ClinGen
TOPMed
CA1383749
rs778179116
401 K>R No ClinGen
ExAC
gnomAD
rs747076704
CA1383750
402 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1253612006
CA344769620
403 S>C No ClinGen
TOPMed
CA1383751
rs771025750
408 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA1383752
rs776779360
409 P>L No ClinGen
ExAC
gnomAD
CA1383790
rs761836623
417 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs753460155
CA1383795
424 E>A No ClinGen
ExAC
gnomAD
rs766012039
CA1383794
424 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs763322752
CA1383796
425 M>I No ClinGen
ExAC
gnomAD
rs764373826
CA1383797
427 G>S No ClinGen
ExAC
gnomAD
rs752030312
CA1383799
431 D>H No ClinGen
ExAC
gnomAD
CA1383798
rs752030312
431 D>N No ClinGen
ExAC
gnomAD
CA1383800
rs750008940
432 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA344770302
rs1231723709
439 A>T No ClinGen
TOPMed
CA344770408
rs1266749763
444 E>K No ClinGen
TOPMed
CA1383821
rs766364145
448 E>K No ClinGen
ExAC
gnomAD
CA344770454
rs755132136
450 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs755132136
CA1383823
450 E>Q No ClinGen
ExAC
gnomAD
rs779233052
CA1383824
451 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1412060471
CA344770465
451 R>L No ClinGen
gnomAD
CA344770468
rs1198599806
452 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344770466
rs1198599806
452 E>Q No ClinGen
gnomAD
rs747909101
CA1383825
453 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 455 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1383827
rs777798963
456 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 457 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs977317471
CA36828412
457 K>R No ClinGen
Ensembl
CA36828425
rs746751008
459 E>D No ClinGen
Ensembl
rs1440333259
CA344770579
460 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1328135667
CA344770615
462 K>N No ClinGen
TOPMed
gnomAD
CA1383830
rs770971667
465 K>N No ClinGen
ExAC
gnomAD
CA344770695
rs1311588181
466 A>G No ClinGen
TOPMed
gnomAD
TCGA novel 466 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA36828447
rs573098347
467 L>Q No ClinGen
TOPMed
gnomAD
CA344770712
rs1363071777
467 L>V No ClinGen
gnomAD
TCGA novel 468 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297700537
CA344770792
470 Q>R No ClinGen
gnomAD
rs1014789613
CA36828472
473 A>T No ClinGen
TOPMed
rs745433703
CA344770898
474 Y>* No ClinGen
ExAC
gnomAD
rs775156232
CA1383834
475 N>K No ClinGen
ExAC
gnomAD
CA1383833
rs769301353
475 N>S No ClinGen
ExAC
gnomAD
CA1383835
rs762117528
476 M>T No ClinGen
ExAC
gnomAD
CA344770944
rs1230873880
476 M>V No ClinGen
gnomAD
rs1488603284
CA344770990
477 H>P No ClinGen
gnomAD
CA344770996
rs1215849375
477 H>Q No ClinGen
gnomAD
CA1383836
rs767872976
478 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs761071796
CA1383838
481 S>G No ClinGen
ExAC
gnomAD
CA1383839
rs766957659
481 S>R No ClinGen
ExAC
gnomAD
rs753828171
CA1383840
483 T>A No ClinGen
ExAC
gnomAD
CA36828554
rs765503592
485 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs765503592
CA1383842
485 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs916598455
CA36828561
486 E>D No ClinGen
Ensembl
CA1383843
rs752977429
486 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 487 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755633598
CA1383844
487 E>L No ClinGen
ExAC
gnomAD
CA344771198
rs1268836453
487 E>Q No ClinGen
TOPMed

No associated diseases with Q15172

8 regional properties for Q15172

Type Name Position InterPro Accession
domain F-box domain 277 - 332 IPR001810
repeat Leucine-rich repeat, cysteine-containing subtype 400 - 425 IPR006553-1
repeat Leucine-rich repeat, cysteine-containing subtype 450 - 475 IPR006553-2
repeat Leucine-rich repeat, cysteine-containing subtype 478 - 503 IPR006553-3
repeat Leucine-rich repeat, cysteine-containing subtype 504 - 524 IPR006553-4
repeat Leucine-rich repeat, cysteine-containing subtype 532 - 557 IPR006553-5
repeat Leucine-rich repeat, cysteine-containing subtype 558 - 583 IPR006553-6
repeat Leucine-rich repeat, cysteine-containing subtype 584 - 609 IPR006553-7

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Chromosome, centromere
  • From mitotic prophase to metaphase, localizes at the inner centromere between a pair of sister kinetochores
  • Decreased expression at the onset of anaphase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
chromosome, centromeric region The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
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.
M band The midline of aligned thick filaments in a sarcomere; location of specific proteins that link thick filaments. Depending on muscle type the M band consists of different numbers of M lines.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
protein phosphatase type 2A complex A protein complex that has protein serine/threonine phosphatase activity that is polycation-stimulated (PCS), being directly stimulated by protamine, polylysine, or histone H1; it constitutes a subclass of several enzymes activated by different histones and polylysine, and consists of catalytic, scaffolding, and regulatory subunits. The catalytic and scaffolding subunits form the core enzyme, and the holoenzyme also includes the regulatory subunit.
Z disc Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

4 GO annotations of molecular function

Name Definition
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
phosphoprotein phosphatase activity Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity.
protein phosphatase activator activity Binds to and increases the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule.
protein phosphatase regulator activity Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule.

5 GO annotations of biological process

Name Definition
negative regulation of lipid kinase activity Any process that decreases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid.
negative regulation of protein localization to plasma membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane.
positive regulation of protein dephosphorylation Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
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.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4FV68 PPP2R5E Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform Bos taurus (Bovine) PR
Q15173 PPP2R5B Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform Homo sapiens (Human) PR
Q16537 PPP2R5E Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform Homo sapiens (Human) PR
Q14738 PPP2R5D Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform Homo sapiens (Human) PR
Q61151 Ppp2r5e Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform Mus musculus (Mouse) PR
Q6PD03 Ppp2r5a Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform Mus musculus (Mouse) PR
O04375 B'ALPHA Serine/threonine protein phosphatase 2A 57 kDa regulatory subunit B' alpha isoform Arabidopsis thaliana (Mouse-ear cress) PR
Q93YV6 B'KAPPA Serine/threonine protein phosphatase 2A 57 kDa regulatory subunit B' kappa isoform Arabidopsis thaliana (Mouse-ear cress) PR
Q8LF36 B'THETA Serine/threonine protein phosphatase 2A 57 kDa regulatory subunit B' theta isoform Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQY6 B'DELTA Serine/threonine protein phosphatase 2A 55 kDa regulatory subunit B' delta isoform Arabidopsis thaliana (Mouse-ear cress) PR
Q9LVE2 B'ZETA Serine/threonine protein phosphatase 2A 59 kDa regulatory subunit B' zeta isoform Arabidopsis thaliana (Mouse-ear cress) PR
Q8RW96 B'GAMMA Serine/threonine protein phosphatase 2A 59 kDa regulatory subunit B' gamma isoform Arabidopsis thaliana (Mouse-ear cress) PR
Q9LU89 B'ETA Serine/threonine protein phosphatase 2A 59 kDa regulatory subunit B' eta isoform Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSSSSPPAGA ASAAISASEK VDGFTRKSVR KAQRQKRSQG SSQFRSQGSQ AELHPLPQLK
70 80 90 100 110 120
DATSNEQQEL FCQKLQQCCI LFDFMDSVSD LKSKEIKRAT LNELVEYVST NRGVIVESAY
130 140 150 160 170 180
SDIVKMISAN IFRTLPPSDN PDFDPEEDEP TLEASWPHIQ LVYEFFLRFL ESPDFQPSIA
190 200 210 220 230 240
KRYIDQKFVQ QLLELFDSED PRERDFLKTV LHRIYGKFLG LRAFIRKQIN NIFLRFIYET
250 260 270 280 290 300
EHFNGVAELL EILGSIINGF ALPLKAEHKQ FLMKVLIPMH TAKGLALFHA QLAYCVVQFL
310 320 330 340 350 360
EKDTTLTEPV IRGLLKFWPK TCSQKEVMFL GEIEEILDVI EPTQFKKIEE PLFKQISKCV
370 380 390 400 410 420
SSSHFQVAER ALYFWNNEYI LSLIEENIDK ILPIMFASLY KISKEHWNPT IVALVYNVLK
430 440 450 460 470 480
TLMEMNGKLF DDLTSSYKAE RQREKKKELE REELWKKLEE LKLKKALEKQ NSAYNMHSIL
SNTSAE