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

1 structures for Q15173

Entry ID Method Resolution Chain Position Source
AF-Q15173-F1 Predicted AlphaFoldDB

319 variants for Q15173

Variant ID(s) Position Change Description Diseaes Association Provenance
rs772148043
CA6086691
3 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA381197697
rs1165886194
5 L>V No ClinGen
gnomAD
rs199949257
CA381197707
7 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1368764132
TCGA novel
CA381197710
7 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs199949257
CA6086695
7 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199949257
CA6086694
7 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762839446
CA6086696
9 S>N No ClinGen
ExAC
gnomAD
CA381197721
rs762839446
9 S>T No ClinGen
ExAC
gnomAD
CA381197728
rs1297738369
10 T>I No ClinGen
TOPMed
gnomAD
rs1297738369
CA381197729
10 T>N No ClinGen
TOPMed
gnomAD
CA381197724
rs1590675774
10 T>P No ClinGen
Ensembl
rs763889029
CA6086697
11 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201904964
CA6086698
12 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA381197736
rs1357488841
12 T>P No ClinGen
TOPMed
gnomAD
CA223918687
rs201904964
12 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1590675802
CA381197742
13 S>N No ClinGen
Ensembl
rs761908185
CA6086699
14 P>L No ClinGen
ExAC
gnomAD
rs879729360
CA223918723
15 S>P No ClinGen
TOPMed
gnomAD
rs750000794
CA6086701
16 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs755690336
CA6086702
17 P>A No ClinGen
ExAC
gnomAD
rs1326486257
CA381197765
17 P>R No ClinGen
TOPMed
CA381197768
TCGA novel
rs1369331128
CA381197767
18 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
rs755378834
CA6086705
19 L>M No ClinGen
ExAC
gnomAD
rs1166883378
CA381197782
20 S>L No ClinGen
gnomAD
CA6086707
rs748653089
22 V>M No ClinGen
ExAC
gnomAD
rs1363460775
CA381197799
23 P>L No ClinGen
gnomAD
CA381197805
rs1380096084
24 P>Q No ClinGen
gnomAD
CA6086709
rs762299687
25 P>H No ClinGen
ExAC
gnomAD
CA6086708
rs762299687
25 P>R No ClinGen
ExAC
gnomAD
CA381197810
rs781499863
26 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs781499863
CA6086712
26 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs781499863
CA381197811
26 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1590675888
CA381197835
29 D>G No ClinGen
Ensembl
CA6086714
rs768493300
30 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA6086715
rs774346245
31 F>S No ClinGen
ExAC
gnomAD
CA381197856
rs1204682464
32 S>F No ClinGen
gnomAD
CA6086716
rs761818150
33 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs772174283
CA6086717
33 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772806139
CA6086718
34 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs760251777
CA381197863
34 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760251777
CA6086720
34 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs760251777
CA6086719
34 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA381197861
rs772806139
34 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs753530198
CA6086722
37 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753530198
CA6086721
37 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6086723
rs765577553
37 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6086724
rs753111857
38 R>G No ClinGen
ExAC
gnomAD
CA381197880
rs1340070230
38 R>K No ClinGen
TOPMed
CA381197891
rs778284880
40 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6086727
rs751546233
40 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6086728
rs751546233
40 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6086726
rs778284880
40 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA381197901
rs1229465441
42 R>C No ClinGen
TOPMed
gnomAD
CA381197900
rs1229465441
42 R>G No ClinGen
TOPMed
gnomAD
rs781205992
CA6086730
42 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 42 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6086731
rs139878967
43 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6086732
rs139878967
43 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6086734
rs201162064
43 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6086733
rs139878967
43 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6086735
rs772084007
44 S>F No ClinGen
ExAC
gnomAD
CA6086736
rs773293765
45 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA381197913
rs1397763181
45 H>Y No ClinGen
TOPMed
rs1485215891
CA381197943
49 Q>L No ClinGen
gnomAD
rs770466967
CA6086738
54 S>G No ClinGen
ExAC
gnomAD
rs770486698
CA223918873
56 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs759207412
CA6086740
58 E>Q No ClinGen
ExAC
gnomAD
CA6086741
rs764913889
59 L>F No ClinGen
ExAC
gnomAD
CA381198031
rs887668274
61 P>L No ClinGen
TOPMed
gnomAD
CA223918898
rs887668274
61 P>Q No ClinGen
TOPMed
gnomAD
CA6086743
rs763330401
63 P>T No ClinGen
ExAC
gnomAD
rs1371749828
CA381198092
67 D>H No ClinGen
gnomAD
CA6086763
rs375715449
69 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1452310026
CA381198764
72 E>D No ClinGen
TOPMed
CA381198753
rs1565099942
72 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs762348200
CA6086765
73 L>V No ClinGen
ExAC
gnomAD
rs767940124
CA6086766
74 H>N No ClinGen
ExAC
gnomAD
CA6086768
rs537733346
75 E>K No ClinGen
ExAC
gnomAD
CA381198834
rs1372578752
78 S>R No ClinGen
TOPMed
CA381198823
rs1470615098
78 S>R No ClinGen
TOPMed
rs142378216
CA6086773
79 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142378216
CA6086772
79 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6086771
rs201702050
79 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA223919572
rs1056820524
85 G>V No ClinGen
Ensembl
rs1590676702
CA381198888
86 V>G No ClinGen
Ensembl
CA6086774
rs757182568
86 V>L No ClinGen
ExAC
gnomAD
rs1459790633
CA381198897
87 M>I No ClinGen
TOPMed
rs1346970590
CA381198893
87 M>T No ClinGen
gnomAD
rs915657267
CA223919581
89 D>N No ClinGen
Ensembl
CA381198915
rs1460356059
90 F>V No ClinGen
gnomAD
rs971684498
CA223919587
93 C>S No ClinGen
TOPMed
CA381198957
rs1345864703
96 D>N No ClinGen
TOPMed
gnomAD
rs1228897518
CA381198970
98 K>E No ClinGen
TOPMed
rs1361584692
CA381199002
102 V>E No ClinGen
gnomAD
rs570547041
CA381199043
108 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1272547286
CA381199074
113 C>Y No ClinGen
gnomAD
CA223919648
rs201218993
115 G>R No ClinGen
TOPMed
gnomAD
rs762106002
CA6086783
116 S>N No ClinGen
ExAC
gnomAD
CA381199095
rs1474894428
116 S>R No ClinGen
gnomAD
CA6086784
rs781016892
117 T>I No ClinGen
ExAC
gnomAD
CA381199097
rs1590676817
117 T>P No ClinGen
Ensembl
CA6086785
rs781016892
117 T>S No ClinGen
ExAC
gnomAD
CA6086787
rs766551486
118 R>Q No ClinGen
ExAC
gnomAD
CA223919686
rs910379059
118 R>W No ClinGen
TOPMed
gnomAD
CA6086789
rs755222755
124 P>L No ClinGen
ExAC
gnomAD
CA6086790
rs765412987
125 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 125 V>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1415643571
CA381199252
131 R>C No ClinGen
gnomAD
CA223919717
rs751323043
131 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6086791
rs751323043
131 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1251706894
COSM689635
CA381199381
135 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1018676282
COSM3723172
CA223920421
139 R>Q upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1016936346
CA223920416
139 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs750257738
CA6086812
142 P>A No ClinGen
ExAC
gnomAD
rs756002778
CA6086813
142 P>L No ClinGen
ExAC
gnomAD
TCGA novel 145 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6086818
rs747739371
146 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1326749211
CA381199523
147 P>L No ClinGen
gnomAD
CA6086819
rs771803603
147 P>S No ClinGen
ExAC
gnomAD
rs1590677497
CA381199545
150 D>A No ClinGen
Ensembl
TCGA novel 150 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs973020818
CA223920447
151 P>L No ClinGen
TOPMed
gnomAD
CA6086820
rs778255430
151 P>S No ClinGen
ExAC
gnomAD
rs1368264276
CA381199572
154 D>N No ClinGen
gnomAD
CA381199575
rs1365416033
154 D>V No ClinGen
gnomAD
CA381199596
rs1232085000
157 N>S No ClinGen
gnomAD
CA248471
RCV000201444
rs747411292
161 S>L Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
rs1469332461
CA381199635
163 P>A No ClinGen
gnomAD
rs1452806550
CA381199674
167 L>V No ClinGen
TOPMed
rs147663616
CA6086839
174 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA223920555
rs150933072
174 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6086840
rs150933072
174 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1205841503
CA381199738
176 L>F No ClinGen
gnomAD
CA223920566
rs898688637
177 E>A No ClinGen
TOPMed
TCGA novel 177 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6086842
rs781732494
178 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs775390875
CA6086845
185 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM194109
rs1210760499
CA381199828
189 Y>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA6086846
rs745568548
189 Y>N No ClinGen
ExAC
gnomAD
rs1017403845
CA223920610
190 V>L No ClinGen
TOPMed
gnomAD
rs962758997
CA223920616
191 D>E No ClinGen
TOPMed
rs200228197
CA223920618
193 K>T No ClinGen
TOPMed
TCGA novel 198 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6086867
rs756527409
201 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 202 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381200068
rs1379019983
204 S>G No ClinGen
gnomAD
rs1332151588
CA381200111
206 D>E No ClinGen
TOPMed
rs1315189653
CA381200127
208 R>G No ClinGen
gnomAD
CA6086870
rs768717776
208 R>Q No ClinGen
ExAC
gnomAD
CA381200128
rs1315189653
208 R>W No ClinGen
gnomAD
rs557535443
CA223920742
210 R>C No ClinGen
1000Genomes
CA381200155
rs1590677869
210 R>H No ClinGen
Ensembl
CA381200166
rs1402359629
211 E>A No ClinGen
TOPMed
rs1415654382
CA381200161
211 E>K No ClinGen
TOPMed
CA381200183
rs1166949734
212 Y>C No ClinGen
TOPMed
CA381200182
rs1166949734
212 Y>S No ClinGen
TOPMed
rs1212695693
CA381200219
215 T>N No ClinGen
gnomAD
rs1590677890
CA381200217
215 T>P No ClinGen
Ensembl
rs774467612
CA6086871
217 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA223920760
rs748344083
219 R>W No ClinGen
ExAC
gnomAD
TCGA novel 222 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381200356
rs1252647594
228 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs772317762
CA6086873
229 A>P No ClinGen
ExAC
gnomAD
rs1450503256
CA381200384
230 Y>C No ClinGen
TOPMed
rs759399865
CA6086875
231 I>V No ClinGen
ExAC
gnomAD
rs765029913
CA6086876
232 R>C No ClinGen
ExAC
gnomAD
rs1444177483
CA381200425
232 R>H No ClinGen
TOPMed
CA381200540
rs1369072358
237 H>N No ClinGen
gnomAD
rs1386885933
CA381200592
240 L>F No ClinGen
TOPMed
gnomAD
rs577391569
CA6086878
241 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775505111
COSM1509518
CA6086877
241 R>W lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA223922110
TCGA novel
rs1024493580
242 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
TCGA novel 243 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6086901
rs761420051
243 I>V No ClinGen
ExAC
gnomAD
CA381201511
rs1280693623
246 F>V No ClinGen
TOPMed
rs142324941
CA6086903
250 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1315924261
CA381201703
260 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs77695690
CA223922237
263 I>S No ClinGen
Ensembl
TCGA novel 266 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381201860
rs1189140107
267 A>V No ClinGen
gnomAD
rs147891521
CA6086927
272 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA381201953
rs1565104242
274 H>N No ClinGen
Ensembl
CA223922282
rs374703944
280 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA381202047
rs1435915662
280 R>H No ClinGen
TOPMed
COSM930267
CA6086930
rs148879767
281 V>I endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751632297
CA6086931
282 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757462485
CA6086932
283 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1590679463
CA381202493
286 H>P No ClinGen
Ensembl
rs1283596211
CA381202521
290 S>L No ClinGen
TOPMed
gnomAD
CA223922332
rs982373883
293 V>I No ClinGen
TOPMed
CA381202549
rs1283395310
295 H>R No ClinGen
TOPMed
gnomAD
CA6086958
rs143547442
299 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA381202646
rs1195721151
307 E>D No ClinGen
gnomAD
CA6086959
rs770343997
309 D>N No ClinGen
ExAC
gnomAD
rs1476903232
CA381202659
309 D>V No ClinGen
gnomAD
CA381202667
rs1171810280
310 A>V No ClinGen
gnomAD
CA223922971
rs752477669
318 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs375513129
CA6086973
318 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6086972
rs752477669
318 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1279275198
CA381202732
319 G>E No ClinGen
TOPMed
TCGA novel 325 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 327 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6086978
rs745418108
330 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs368393421
CA6087002
333 V>M No ClinGen
ESP
ExAC
gnomAD
CA381202882
rs1431143540
337 G>E No ClinGen
gnomAD
rs1369818255
CA381202892
338 E>G No ClinGen
gnomAD
rs1214107284
CA381202886
338 E>K No ClinGen
gnomAD
TCGA novel 342 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6087004
rs773858189
343 L>F No ClinGen
ExAC
TCGA novel 345 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371550514
CA6087005
346 I>T No ClinGen
ESP
ExAC
gnomAD
rs1565105692
CA381203066
349 S>F No ClinGen
Ensembl
rs1218742306
CA381203077
350 Q>R No ClinGen
TOPMed
rs554550266
CA6087007
351 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs759647455
CA6087008
352 V>M No ClinGen
ExAC
gnomAD
rs1422702510
CA381203129
354 I>L No ClinGen
TOPMed
gnomAD
rs765528912
CA6087009
355 Q>L No ClinGen
ExAC
gnomAD
rs773972870
CA6087010
356 E>K No ClinGen
ExAC
gnomAD
rs1439954999
CA381203182
357 P>T No ClinGen
gnomAD
COSM1704231
CA381203197
rs1291108101
358 L>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 359 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA223923160
rs1018532000
363 A>T No ClinGen
Ensembl
rs138534603
CA6087012
364 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141499148
CA6087013
364 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA6087014
rs141499148
364 R>L No ClinGen
ESP
ExAC
gnomAD
CA381203370
rs1409835003
370 H>Y No ClinGen
TOPMed
CA381203385
rs1301579962
371 F>L No ClinGen
gnomAD
TCGA novel 371 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1157249345
CA381204193
375 E>Q No ClinGen
TOPMed
rs1267100475
CA381204220
379 Y>F No ClinGen
gnomAD
rs1478385898
CA381204239
381 W>C No ClinGen
gnomAD
CA6087038
rs368921406
390 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6087037
rs368921406
390 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1465131307
CA381204300
390 I>V No ClinGen
gnomAD
CA381204317
rs1483156280
392 D>V No ClinGen
TOPMed
gnomAD
rs75667682
CA223923963
393 N>T No ClinGen
Ensembl
rs764718744
CA6087039
396 T>I No ClinGen
ExAC
gnomAD
CA381204364
rs1400440434
399 P>L No ClinGen
gnomAD
TCGA novel 400 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA223923977
rs1036521798
404 T>A No ClinGen
TOPMed
CA381204398
rs1316024916
405 L>F No ClinGen
TOPMed
gnomAD
CA381204407
rs1283557212
406 Y>C No ClinGen
TOPMed
rs1289987376
CA381204414
407 Q>R No ClinGen
gnomAD
CA223923987
rs972607175
410 K>T No ClinGen
Ensembl
CA381204461
rs1590681282
413 W>C No ClinGen
Ensembl
rs1465397691
CA381204490
416 T>P No ClinGen
TOPMed
gnomAD
rs1239774511
CA381204497
417 I>V No ClinGen
gnomAD
rs762655633
CA6087059
418 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6087060
rs762655633
418 V>L No ClinGen
ExAC
gnomAD
CA6087061
rs751918657
422 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA381204529
rs751918657
422 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA381204533
rs1565107164
423 N>D No ClinGen
Ensembl
rs1441792354
CA381204548
425 L>F No ClinGen
TOPMed
gnomAD
rs1565107190
CA381204552
426 K>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs369675898
CA6087065
427 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369675898
CA6087064
427 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373704138
CA223924188
COSM255491
429 M>I central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
rs1444027966
CA381204572
429 M>L No ClinGen
TOPMed
rs780065724
CA6087066
431 M>I No ClinGen
ExAC
gnomAD
rs960885050
CA223924191
433 G>E No ClinGen
TOPMed
CA381204613
rs1334703545
434 K>R No ClinGen
gnomAD
CA6087068
rs768805610
435 L>Q No ClinGen
ExAC
gnomAD
TCGA novel 436 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA223924198
rs774805248
438 E>K No ClinGen
TOPMed
CA6087070
rs748385615
440 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1306708149
CA381204654
440 T>I No ClinGen
gnomAD
CA6087072
rs776337900
442 S>F No ClinGen
ExAC
gnomAD
rs1281301325
CA381204672
443 Y>* No ClinGen
gnomAD
rs561074218
CA6087073
445 L>M No ClinGen
1000Genomes
ExAC
gnomAD
CA6087074
rs201780164
446 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1436091601
CA381204697
447 K>R No ClinGen
gnomAD
CA6087075
rs775092275
449 Q>* No ClinGen
ExAC
gnomAD
rs1325193145
CA381204737
451 Q>E No ClinGen
gnomAD
CA6087093
rs749308648
453 K>N No ClinGen
ExAC
gnomAD
rs1342958764
CA381204809
455 Q>H No ClinGen
gnomAD
CA6087094
rs146213589
455 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA381204830
rs1250832517
457 R>C No ClinGen
TOPMed
gnomAD
CA223924759
rs977094131
457 R>H No ClinGen
TOPMed
gnomAD
CA381204863
rs1313322634
459 E>K No ClinGen
Ensembl
rs1376859184
CA381204899
461 W>* No ClinGen
TOPMed
rs1288047705
CA381204895
461 W>R No ClinGen
gnomAD
CA381204915
rs1489786301
462 Q>* No ClinGen
gnomAD
rs1198462965
CA381204937
463 G>V No ClinGen
gnomAD
rs761483935
CA381204941
464 L>V No ClinGen
ExAC
gnomAD
rs773562827
CA6087098
468 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6087097
COSM1221810
rs767095459
468 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs137914776
CA223924808
470 R>C No ClinGen
ESP
TOPMed
gnomAD
rs1164607685
CA381205022
470 R>H No ClinGen
gnomAD
CA223924801
rs137914776
470 R>S No ClinGen
ESP
TOPMed
gnomAD
rs959789177
CA381205031
471 R>L No ClinGen
TOPMed
gnomAD
rs959789177
CA223924827
471 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1424367874
CA381205024
471 R>W No ClinGen
TOPMed
gnomAD
rs1398686984
CA381205063
473 Q>H No ClinGen
gnomAD
CA381205087
rs1295564192
475 T>N No ClinGen
gnomAD
CA381205090
rs1295564192
475 T>S No ClinGen
gnomAD
rs761027924
CA6087099
476 Q>E No ClinGen
ExAC
gnomAD
rs1247137866
CA381205130
478 A>P No ClinGen
TOPMed
gnomAD
rs1247137866
CA381205128
478 A>T No ClinGen
TOPMed
gnomAD
CA381205173
rs1590682114
481 A>P No ClinGen
Ensembl
CA381205185
rs1221390294
482 P>A No ClinGen
gnomAD
CA381205192
rs1286478650
482 P>L No ClinGen
gnomAD
rs992580191
CA223924832
483 L>F No ClinGen
Ensembl
rs1423849546
CA381205235
485 R>Q No ClinGen
TOPMed
gnomAD
CA6087101
rs192831260
485 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755525873
CA6087103
488 P>L No ClinGen
ExAC
gnomAD
rs1382941140
CA381205271
488 P>S No ClinGen
TOPMed
gnomAD
rs1382941140
CA381205267
488 P>T No ClinGen
TOPMed
gnomAD
rs1362830236
CA381205283
489 Q>* No ClinGen
gnomAD
CA223924857
rs895929534
489 Q>H No ClinGen
TOPMed
gnomAD
rs1288763110
CA381205309
490 V>A No ClinGen
gnomAD
rs1288763110
CA381205308
490 V>G No ClinGen
gnomAD
rs752753102
CA6087105
492 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA381205328
rs752753102
492 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1382224091
CA381205340
493 S>G No ClinGen
gnomAD
CA223924862
rs368931364
495 G>C No ClinGen
Ensembl
CA223924863
rs948615315
495 G>D No ClinGen
TOPMed
CA381205395
rs1311811630
497 S>G No ClinGen
gnomAD
rs1355556877
CA381205400
497 S>N No ClinGen
TOPMed
gnomAD
CA223924864
rs1037611314
498 S>Y No ClinGen
TOPMed

No associated diseases with Q15173

No regional properties for Q15173

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q15173

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
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.
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.

2 GO annotations of molecular function

Name Definition
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.

12 GO annotations of biological process

Name Definition
cellular response to growth factor stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
negative regulation of G0 to G1 transition A cell cycle process that stops, prevents, or reduces the rate or extent of the transition from the G0 quiescent state to the G1 phase.
positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of neurotrophin TRK receptor signaling pathway Any process that activates or increases the frequency, rate or extent of the neurotrophin TRK receptor signaling pathway.
positive regulation of protein-containing complex assembly Any process that activates or increases the frequency, rate or extent of protein complex assembly.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
regulation of peptidyl-tyrosine phosphorylation Any process that modulates the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
regulation of protein autophosphorylation Any process that modulates the frequency, rate or extent of addition of the phosphorylation by a protein of one or more of its own residues.
regulation of signaling receptor activity Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity.
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
Q15172 PPP2R5A Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha 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
METKLPPAST PTSPSSPGLS PVPPPDKVDG FSRRSLRRAR PRRSHSSSQF RYQSNQQELT
70 80 90 100 110 120
PLPLLKDVPA SELHELLSRK LAQCGVMFDF LDCVADLKGK EVKRAALNEL VECVGSTRGV
130 140 150 160 170 180
LIEPVYPDII RMISVNIFRT LPPSENPEFD PEEDEPNLEP SWPHLQLVYE FFLRFLESPD
190 200 210 220 230 240
FQPSVAKRYV DQKFVLMLLE LFDSEDPRER EYLKTILHRV YGKFLGLRAY IRKQCNHIFL
250 260 270 280 290 300
RFIYEFEHFN GVAELLEILG SIINGFALPL KTEHKQFLVR VLIPLHSVKS LSVFHAQLAY
310 320 330 340 350 360
CVVQFLEKDA TLTEHVIRGL LKYWPKTCTQ KEVMFLGEME EILDVIEPSQ FVKIQEPLFK
370 380 390 400 410 420
QVARCVSSPH FQVAERALYF WNNEYILSLI EDNCHTVLPA VFGTLYQVSK EHWNQTIVSL
430 440 450 460 470 480
IYNVLKTFME MNGKLFDELT ASYKLEKQQE QQKAQERQEL WQGLEELRLR RLQGTQGAKE
490
APLQRLTPQV AASGGQS