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 O95502

Entry ID Method Resolution Chain Position Source
AF-O95502-F1 Predicted AlphaFoldDB

411 variants for O95502

Variant ID(s) Position Change Description Diseaes Association Provenance
CA411568260
rs1172165768
4 L>V No ClinGen
TOPMed
CA411568154
rs1293889448
9 A>T No ClinGen
gnomAD
TCGA novel 10 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1269674813
CA411568126
11 G>D No ClinGen
gnomAD
rs1195353899
CA411568101
12 M>I No ClinGen
gnomAD
rs1479764956
CA411568083
14 A>V No ClinGen
gnomAD
CA324316943
rs866660947
18 A>S No ClinGen
Ensembl
CA411567882
rs1253335754
25 S>I No ClinGen
gnomAD
TCGA novel 29 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411567806
rs1283815789
30 A>S No ClinGen
gnomAD
rs1056963113
CA324316942
30 A>V No ClinGen
TOPMed
rs1443280999
CA411567781
31 S>C No ClinGen
gnomAD
CA411567760
rs1448387745
32 P>A No ClinGen
TOPMed
rs1228554608
CA411567735
33 A>E No ClinGen
TOPMed
gnomAD
rs1228554608
CA411567731
33 A>V No ClinGen
TOPMed
gnomAD
CA411567706
rs1352580907
35 A>P No ClinGen
gnomAD
CA411567702
rs1311988581
35 A>V No ClinGen
gnomAD
CA324316930
rs926956897
38 G>S No ClinGen
TOPMed
gnomAD
rs978429804
CA324316899
40 A>T No ClinGen
TOPMed
rs1200613181
CA411567577
42 N>S No ClinGen
TOPMed
CA411567559
rs1303990844
43 A>V No ClinGen
Ensembl
rs1238795134
CA411567548
44 S>L No ClinGen
TOPMed
CA411567541
rs1403919827
45 V>G No ClinGen
TOPMed
gnomAD
rs1468255731
CA411567544
45 V>L No ClinGen
TOPMed
CA411567539
rs1413606126
46 A>T No ClinGen
TOPMed
gnomAD
CA411567529
rs1158772185
46 A>V No ClinGen
gnomAD
rs1603247179
CA411567526
47 S>T No ClinGen
Ensembl
CA324316898
rs565646758
48 G>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA411567487
rs1467582528
50 A>G No ClinGen
TOPMed
CA411567434
rs1490384947
54 G>D No ClinGen
TOPMed
gnomAD
CA411567429
rs1438323707
55 P>S No ClinGen
TOPMed
rs1270922012
CA411567416
56 Q>P No ClinGen
TOPMed
gnomAD
CA411567402
rs1225883262
57 R>W No ClinGen
TOPMed
gnomAD
rs912978000
CA324316895
58 S>T No ClinGen
TOPMed
CA324316851
rs1019824100
65 A>T No ClinGen
TOPMed
gnomAD
rs954317301
CA324316814
66 G>D No ClinGen
TOPMed
CA324316802
rs1026979804
71 P>S No ClinGen
TOPMed
gnomAD
rs776494065
CA10236570
75 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1398123477
CA411567178
76 G>E No ClinGen
gnomAD
CA324316791
rs897213896
82 A>V No ClinGen
TOPMed
rs1178392169
CA411567039
86 P>L No ClinGen
TOPMed
gnomAD
rs1178392169
CA411567037
86 P>R No ClinGen
TOPMed
gnomAD
rs1426933185
CA411567044
86 P>S No ClinGen
TOPMed
gnomAD
rs1426933185
CA411567047
86 P>T No ClinGen
TOPMed
gnomAD
rs1411206602
CA411567033
87 P>S No ClinGen
gnomAD
CA411567031
rs1411206602
87 P>T No ClinGen
gnomAD
rs1400587414
CA411567016
88 G>E No ClinGen
TOPMed
CA324316761
rs1013698460
88 G>R No ClinGen
TOPMed
gnomAD
CA411567018
rs1013698460
88 G>W No ClinGen
TOPMed
gnomAD
CA411567008
rs1292633639
89 P>A No ClinGen
TOPMed
rs895633404
CA324316758
89 P>H No ClinGen
TOPMed
gnomAD
rs895633404
CA411567003
89 P>L No ClinGen
TOPMed
gnomAD
rs1267229254
CA411566998
90 L>V No ClinGen
TOPMed
CA411566980
rs1357409241
91 F>C No ClinGen
TOPMed
CA411566960
rs1284388828
92 S>R No ClinGen
TOPMed
rs1461092318
CA411566954
93 R>H No ClinGen
gnomAD
CA411566923
rs1489459076
96 C>R No ClinGen
TOPMed
rs1261646967
CA411566902
97 T>M No ClinGen
gnomAD
CA411566888
rs1189019503
98 P>L No ClinGen
TOPMed
CA411566892
rs1189019503
98 P>R No ClinGen
TOPMed
rs1257456754
CA411566898
98 P>T No ClinGen
TOPMed
rs1279510151
CA411566865
100 A>V No ClinGen
gnomAD
rs1236180032
CA411566862
101 A>T No ClinGen
gnomAD
rs1337018769
CA411566858
101 A>V No ClinGen
gnomAD
rs1365212283
CA411566843
102 A>G No ClinGen
Ensembl
CA411566832
rs1307167282
103 C>F No ClinGen
gnomAD
CA324316743
rs937249928
104 P>L No ClinGen
TOPMed
rs774816033
CA10236567
104 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 106 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411566800
rs1403502269
106 G>W No ClinGen
gnomAD
CA10236566
rs771503166
107 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1468608568
CA411566769
108 Q>H No ClinGen
gnomAD
rs1365602175
CA411566749
109 Q>H No ClinGen
gnomAD
rs1182696394
CA411566734
110 G>V No ClinGen
gnomAD
rs1315014472
CA411566712
111 D>G No ClinGen
TOPMed
rs1444211381
CA411566721
111 D>N No ClinGen
gnomAD
CA324316725
rs947061877
112 A>E No ClinGen
TOPMed
CA411566698
rs1462054077
112 A>T No ClinGen
gnomAD
CA411566656
rs1238657119
113 A>V No ClinGen
TOPMed
CA411566575
rs1279971347
117 P>L No ClinGen
TOPMed
CA411566578
rs1279971347
117 P>R No ClinGen
TOPMed
TCGA novel 118 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411566386
rs1176183318
123 L>R No ClinGen
TOPMed
rs1439855747
CA411566272
127 Q>R No ClinGen
TOPMed
CA10236562
rs770206274
128 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 129 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411566223
rs1435020171
129 T>P No ClinGen
gnomAD
CA324316700
rs988955023
130 A>V No ClinGen
TOPMed
TCGA novel 131 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1319313176
CA411566145
131 E>K No ClinGen
gnomAD
CA411566093
rs1380076130
132 Q>R No ClinGen
TOPMed
gnomAD
rs943826554
CA324316694
135 Q>R No ClinGen
TOPMed
rs781394016
CA10236560
136 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1364200503
CA411565937
137 A>S No ClinGen
gnomAD
rs866466540
CA324316686
137 A>V No ClinGen
gnomAD
CA411565866
rs1402361758
140 Q>L No ClinGen
TOPMed
gnomAD
rs1402361758
CA411565874
140 Q>R No ClinGen
TOPMed
gnomAD
rs747132112
CA411565819
142 A>E No ClinGen
ExAC
gnomAD
rs747132112
CA10236558
142 A>V No ClinGen
ExAC
gnomAD
rs866809734
CA324316670
146 A>D No ClinGen
Ensembl
rs758471421
CA10236556
147 D>V No ClinGen
ExAC
gnomAD
rs750375912
CA10236555
148 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1409283809
CA411565690
151 I>N No ClinGen
TOPMed
gnomAD
CA411565692
rs1257123237
151 I>V No ClinGen
TOPMed
CA411565686
rs1196213627
152 R>S No ClinGen
TOPMed
rs765251881
CA10236554
153 E>V No ClinGen
ExAC
gnomAD
CA411565666
rs1158017068
155 T>A No ClinGen
TOPMed
gnomAD
CA411565659
rs1449203249
156 G>D No ClinGen
gnomAD
rs371614157
CA411565661
156 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371614157
CA10236552
156 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867376995
CA324316605
157 K>N No ClinGen
Ensembl
CA10236551
rs763863559
157 K>R No ClinGen
ExAC
gnomAD
CA324316602
rs867188659
158 L>M No ClinGen
gnomAD
rs1356664861
CA411565639
160 R>G No ClinGen
TOPMed
gnomAD
rs1293413898
CA411565636
160 R>H No ClinGen
gnomAD
rs1463934682
CA411565612
163 S>R No ClinGen
TOPMed
CA411565615
rs1372442130
163 S>T No ClinGen
TOPMed
rs1338413309
CA411565599
166 P>S No ClinGen
gnomAD
TCGA novel 168 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs568351620
CA10236550
168 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1326902111
CA411565570
170 Q>H No ClinGen
TOPMed
gnomAD
rs974071606
CA324316586
171 G>C No ClinGen
TOPMed
rs775179493
CA10236549
173 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 173 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10236548
rs766989044
174 P>R No ClinGen
ExAC
gnomAD
CA411565546
rs1242669857
175 R>G No ClinGen
TOPMed
gnomAD
rs764654952
CA324316559
175 R>H No ClinGen
gnomAD
rs759078068
CA10236547
176 R>L No ClinGen
ExAC
gnomAD
rs1165611245
CA411565541
176 R>S No ClinGen
gnomAD
CA411565526
rs1307491061
178 T>I No ClinGen
TOPMed
CA411565518
rs1166472395
179 M>R No ClinGen
gnomAD
rs1259490935
CA411565522
179 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA411565497
rs1374082946
182 G>E No ClinGen
TOPMed
gnomAD
rs1199337986
CA411565482
184 W>* No ClinGen
gnomAD
CA411565476
rs1489223042
185 D>G No ClinGen
TOPMed
CA324316526
rs1014083450
185 D>N No ClinGen
TOPMed
gnomAD
rs115826781
CA10236545
186 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411565462
rs1222649281
187 P>H No ClinGen
gnomAD
CA411565465
rs1260768037
187 P>S No ClinGen
TOPMed
rs1436832847
CA411565457
188 A>G No ClinGen
gnomAD
rs1172705655
CA411565461
188 A>T No ClinGen
TOPMed
CA10236544
rs748522267
191 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA324316483
rs988665176
194 E>* No ClinGen
gnomAD
rs1347371160
CA411565355
198 R>S No ClinGen
gnomAD
rs957267172
CA324316467
199 A>T No ClinGen
TOPMed
gnomAD
CA411565312
rs1354111793
201 R>W No ClinGen
gnomAD
rs1411942030
CA411565282
202 D>E No ClinGen
gnomAD
TCGA novel 202 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411565276
rs1424784566
203 R>C No ClinGen
TOPMed
gnomAD
CA411565274
rs1176234635
203 R>H No ClinGen
gnomAD
CA411565272
rs1176234635
203 R>P No ClinGen
gnomAD
rs747234733
CA10236541
205 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA324316453
rs1043380924
205 D>H No ClinGen
TOPMed
rs1432137721
CA411565219
206 R>L No ClinGen
gnomAD
rs920460278
CA324303828
211 L>F No ClinGen
gnomAD
rs755919030
CA10236533
212 P>S No ClinGen
ExAC
gnomAD
rs752354485
CA10236532
213 A>V No ClinGen
ExAC
gnomAD
CA324303807
rs866663029
214 R>C No ClinGen
TOPMed
gnomAD
rs767199079
CA10236531
214 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs767199079
CA411561243
214 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA324303802
rs866663029
214 R>S No ClinGen
TOPMed
gnomAD
rs1242177819
CA411561236
215 V>M No ClinGen
gnomAD
CA411561220
rs1603245346
216 N>T No ClinGen
Ensembl
CA10236529
rs374110111
217 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411561177
rs762265043
220 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762265043
CA10236527
220 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 220 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411561162
rs1282217530
221 P>S No ClinGen
gnomAD
rs572544703
CA10236525
222 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA10236523
rs775640516
223 P>S No ClinGen
ExAC
gnomAD
TCGA novel 228 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 228 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1430615454
CA411561068
229 T>I No ClinGen
gnomAD
rs192020239
CA324303739
230 G>D No ClinGen
1000Genomes
gnomAD
rs779097745
CA10236520
230 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1419799185
CA411561039
232 H>Q No ClinGen
gnomAD
rs771105329
CA10236519
233 S>A No ClinGen
ExAC
gnomAD
rs371797046
CA10236518
235 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411560983
rs1258016974
237 Q>K No ClinGen
gnomAD
rs1256585172
CA411560961
238 L>P No ClinGen
gnomAD
CA411560969
rs777755585
238 L>V No ClinGen
ExAC
gnomAD
rs1382147032
CA411560958
239 E>K No ClinGen
TOPMed
TCGA novel 244 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1311718378
CA411560872
245 Q>H No ClinGen
gnomAD
rs1243809273
CA411560874
245 Q>P No ClinGen
gnomAD
rs1603245330
CA411560859
246 V>G No ClinGen
Ensembl
CA10236513
rs754572836
247 L>V No ClinGen
ExAC
gnomAD
rs1354507247
CA411560822
250 E>K No ClinGen
gnomAD
rs765911529
CA10236510
252 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs762426363
CA10236509
COSM580280
253 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762426363
CA411560776
253 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10236508
rs376328414
253 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 253 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 254 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411560756
rs1427721227
255 A>T No ClinGen
Ensembl
CA411560743
rs1291153243
256 L>F No ClinGen
gnomAD
rs1364406153
CA411560700
259 S>G No ClinGen
gnomAD
rs1380831947
CA411560691
259 S>R No ClinGen
gnomAD
rs200507552
COSM1416289
CA10236505
261 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411560656
rs145832617
262 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10236502
rs145832617
262 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772216123
CA10236503
262 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs774695782
CA10236501
264 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10236500
rs771195311
264 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749378393
CA10236499
264 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 265 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 265 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10236498
rs777580982
266 E>K No ClinGen
ExAC
rs1603245311
CA411560593
267 V>G No ClinGen
Ensembl
rs769709888
CA10236497
267 V>M No ClinGen
ExAC
gnomAD
CA411560542
rs1568984675
270 E>D No ClinGen
Ensembl
CA411560553
rs1220403859
270 E>G No ClinGen
gnomAD
rs146892527
CA324303605
271 L>S No ClinGen
ESP
rs780997596
CA411560539
271 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1306127665
CA411560506
273 V>A No ClinGen
gnomAD
CA324303601
rs751260752
273 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs751260752
CA10236493
273 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1375821112
CA411560500
274 L>P No ClinGen
TOPMed
rs779666889
CA10236492
275 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 276 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757970245
CA324303588
276 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs1174369821
CA411560457
276 G>D No ClinGen
TOPMed
rs757970245
CA10236491
276 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10236490
rs181616480
277 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764531302
CA10236489
279 A>P No ClinGen
ExAC
gnomAD
CA411560406
rs764531302
279 A>S No ClinGen
ExAC
gnomAD
COSM726302
CA324303552
rs887146414
280 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1379590060
CA411560303
282 E>G No ClinGen
TOPMed
rs1027666438
CA324303547
282 E>Q No ClinGen
TOPMed
rs1603245084
CA411560005
284 G>E No ClinGen
Ensembl
CA324303534
rs972112990
284 G>R No ClinGen
TOPMed
gnomAD
CA411559993
rs1247151929
285 S>P No ClinGen
gnomAD
CA324302324
rs375154090
289 S>G No ClinGen
TOPMed
gnomAD
CA411559814
rs1346384680
291 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 293 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1321608569
CA411559784
293 A>T No ClinGen
TOPMed
rs1259596068
CA411559768
293 A>V No ClinGen
gnomAD
TCGA novel 295 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355342267
CA411559675
297 S>N No ClinGen
gnomAD
CA10236466
rs768131103
299 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA324302300
rs905832793
300 I>N No ClinGen
TOPMed
rs755394676
CA411559607
301 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs763198430
CA10236462
301 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10236464
rs763198430
301 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs763198430
CA10236463
301 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA10236465
rs755394676
301 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA10236461
rs773278031
302 N>S No ClinGen
ExAC
gnomAD
CA10236458
rs776617870
304 Y>C No ClinGen
ExAC
gnomAD
CA411559556
rs768515182
305 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA324302236
rs1018157501
305 M>T No ClinGen
Ensembl
CA10236457
rs768515182
305 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA10236455
rs775225739
307 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs140101072
CA10236454
308 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140101072
CA324302226
308 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745582200
CA10236453
308 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10236450
rs368736692
309 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM289095
CA10236451
rs368736692
309 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10236448
rs376313574
310 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10236447
rs376313574
310 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10236449
rs568659250
310 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 311 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1244429569
CA411559386
314 P>L No ClinGen
TOPMed
rs1355228425
CA411559394
314 P>S No ClinGen
TOPMed
gnomAD
CA10236443
rs750717348
315 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10236442
rs765375184
316 L>F No ClinGen
ExAC
gnomAD
rs5757299
CA411559307
317 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753857826
CA10236440
318 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 320 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1603245054
CA411559243
320 T>P No ClinGen
Ensembl
rs1325738969
CA411559234
320 T>S No ClinGen
gnomAD
rs764050642
CA10236439
321 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760645476
CA10236438
321 A>V No ClinGen
ExAC
CA411559199
rs775381952
322 C>S No ClinGen
ExAC
gnomAD
CA10236437
rs775381952
322 C>Y No ClinGen
ExAC
gnomAD
CA10236435
rs759244826
323 M>I No ClinGen
ExAC
gnomAD
CA10236436
rs117273127
323 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1362536720
CA411559186
323 M>V No ClinGen
gnomAD
rs750112469
CA411559104
325 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA10236432
rs748848563
326 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10236433
rs34637063
326 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1244526016
CA411559061
327 S>Y No ClinGen
gnomAD
CA411559043
rs1372938933
328 R>G No ClinGen
gnomAD
CA411559006
rs1603245041
329 S>A No ClinGen
Ensembl
rs1046052614
CA324302071
329 S>F No ClinGen
Ensembl
CA411558897
rs1263252238
331 G>D No ClinGen
gnomAD
rs769401848
CA10236430
331 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA411558891
rs1603245038
332 T>P No ClinGen
Ensembl
CA10236428
rs780696214
333 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1556030490
CA411558817
334 Q>R No ClinGen
Ensembl
CA10236427
rs758866290
335 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA411558783
rs1303675585
335 G>V No ClinGen
gnomAD
rs1603245032
CA411558769
336 T>P No ClinGen
Ensembl
CA10236425
rs779210615
337 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 338 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10236422
rs200083748
344 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411558561
rs1277256768
345 Q>K No ClinGen
TOPMed
rs1396204676
CA411558509
347 N>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA411558510
rs1396204676
347 N>S No ClinGen
gnomAD
rs1352149299
CA411557457
348 E>D No ClinGen
TOPMed
COSM1259410
CA10236417
rs773964723
348 E>K oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs770644558
CA10236416
349 I>T No ClinGen
ExAC
gnomAD
TCGA novel 350 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10236415
rs762739466
350 V>L No ClinGen
ExAC
gnomAD
CA411557316
rs1277423998
354 A>T No ClinGen
TOPMed
CA10236414
rs375259496
354 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411557276
rs1270598637
355 G>D No ClinGen
gnomAD
CA10236413
rs769489717
358 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10236412
rs747658539
359 M>L No ClinGen
ExAC
gnomAD
CA10236410
rs530212748
364 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs147434453
CA10236411
364 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10236408
rs779185093
365 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA411555732
rs1484172790
367 V>M No ClinGen
gnomAD
rs777981656
CA10236385
368 A>T No ClinGen
ExAC
gnomAD
rs1284060078
CA411555462
373 S>R No ClinGen
gnomAD
CA411555436
rs1242574431
374 L>Q No ClinGen
gnomAD
CA10236380
rs751513427
376 D>G No ClinGen
ExAC
gnomAD
CA10236381
rs755066146
376 D>N No ClinGen
ExAC
gnomAD
CA10236379
rs367643098
377 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1303934210
CA411555184
379 W>C No ClinGen
gnomAD
rs1603244529
CA411555181
380 H>N No ClinGen
Ensembl
CA10236378
rs758273667
381 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10236377
rs750187014
382 I>M No ClinGen
ExAC
gnomAD
CA411555062
rs1358060128
382 I>V No ClinGen
gnomAD
CA411554986
rs1419894607
384 I>T No ClinGen
gnomAD
CA324298937
rs900977014
384 I>V No ClinGen
TOPMed
rs139705044
CA10236375
385 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10236374
rs776324465
385 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1199573654
CA411554860
389 R>G No ClinGen
TOPMed
rs150632579
CA10236373
389 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1486561339
CA411554799
390 D>G No ClinGen
TOPMed
CA411554796
rs1188404589
391 G>S No ClinGen
TOPMed
rs1300562131
CA411554549
397 Q>R No ClinGen
gnomAD
CA324298898
rs959559163
398 D>H No ClinGen
Ensembl
rs267606249
CA324298844
399 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs771367258
CA10236370
399 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs749673283
CA10236369
403 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs773522042
CA10236368
405 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 408 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10236367
rs770110091
410 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA411554100
rs111874702
412 H>N No ClinGen
gnomAD
CA411554070
rs1291434740
412 H>Q No ClinGen
gnomAD
CA324298799
rs111874702
412 H>Y No ClinGen
gnomAD
CA411554043
rs1459182587
414 I>T No ClinGen
gnomAD
CA10236365
rs1556029881
414 I>V No ClinGen
Ensembl
TCGA novel 416 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169547911
CA411554001
416 P>R No ClinGen
gnomAD
CA10236364
rs748371400
416 P>S No ClinGen
ExAC
gnomAD
TCGA novel 418 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324298785
rs1010872135
421 I>T No ClinGen
Ensembl
CA10236362
rs755083133
423 G>C No ClinGen
ExAC
gnomAD
CA10236361
rs747046423
425 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1603244467
CA411553888
428 T>P No ClinGen
Ensembl
CA411553846
rs967248905
431 G>D No ClinGen
TOPMed
gnomAD
CA324298590
rs967248905
431 G>V No ClinGen
TOPMed
gnomAD
CA324298588
rs371378883
432 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10236342
rs371378883
432 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411553842
rs1187072442
432 R>W No ClinGen
TOPMed
gnomAD
CA10236341
rs200610146
433 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs893843282
CA324298556
434 D>V No ClinGen
TOPMed
rs757005174
CA10236339
435 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs757005174
CA411553810
435 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs753609252
CA10236338
436 T>I No ClinGen
ExAC
CA411553796
rs1603244459
436 T>P No ClinGen
Ensembl
rs777309805
CA10236337
438 A>D No ClinGen
ExAC
gnomAD
rs777309805
CA411553747
438 A>G No ClinGen
ExAC
gnomAD
CA411553717
rs1296489241
440 V>I No ClinGen
TOPMed
rs767059132
CA10236334
441 G>D No ClinGen
ExAC
gnomAD
rs752310738
CA10236335
441 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA411553652
rs1331843256
443 I>T No ClinGen
gnomAD
CA324298513
rs1037089429
445 Q>H No ClinGen
TOPMed
rs759036936
CA10236333
446 F>L No ClinGen
ExAC
gnomAD
CA411553552
rs1400019249
449 W>* No ClinGen
gnomAD
rs1301112617
CA411553539
450 D>H No ClinGen
gnomAD
rs1569326496
CA411553531
450 D>V No ClinGen
Ensembl
CA10236331
rs765667798
451 H>R No ClinGen
ExAC
gnomAD
CA10236332
rs138349722
451 H>Y No ClinGen
ESP
ExAC
gnomAD
CA10236329
rs61737784
COSM3964289
452 A>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411553466
rs1382533717
455 P>L No ClinGen
TOPMed
gnomAD
rs1382533717
CA411553461
455 P>Q No ClinGen
TOPMed
gnomAD
CA324298486
rs189589858
456 A>P No ClinGen
1000Genomes
gnomAD
CA411553459
rs189589858
456 A>T No ClinGen
1000Genomes
gnomAD
rs1201618291
CA411553337
463 N>K No ClinGen
gnomAD
rs760997710
CA10236327
463 N>Y No ClinGen
ExAC
gnomAD
CA411553319
rs1483286501
464 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA411553301
rs201081137
465 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs201081137
CA10236326
465 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs745876945
CA10236324
466 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA411553234
rs1243821312
467 P>S No ClinGen
gnomAD
rs770851355
CA10236322
471 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs749066113
CA10236321
472 V>I No ClinGen
ExAC
gnomAD
CA324298430
rs925461793
473 L>V No ClinGen
TOPMed
gnomAD
rs920280469
CA324298429
476 E>D No ClinGen
TOPMed
rs1297713817
CA411553025
476 E>G No ClinGen
gnomAD
rs376143434
CA10236319
480 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747852955
CA10236318
481 E>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 482 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs937645787
CA324298403
485 G>C No ClinGen
Ensembl
CA411552749
rs1449292738
486 A>T No ClinGen
gnomAD
CA411552723
rs1378228063
487 T>A No ClinGen
TOPMed
CA411552707
rs754268800
487 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs754268800
CA10236312
487 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA324298377
rs914182461
489 A>G No ClinGen
TOPMed
rs1286301565
CA411552603
490 A>V No ClinGen
gnomAD
CA10236309
rs775859393
492 D>G No ClinGen
ExAC
gnomAD
CA10236310
rs760942378
492 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1440179701
CA411552456
494 C>Y No ClinGen
gnomAD
rs767789051
CA10236308
495 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 496 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1277605570
CA411552395
497 R>K No ClinGen
TOPMed
gnomAD
rs367835542
CA10236307
498 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs148816112
CA10236305
500 A>V No ClinGen
ESP
ExAC
gnomAD

No associated diseases with O95502

No regional properties for O95502

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O95502

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.

1 GO annotations of biological process

Name Definition
regulation of postsynaptic neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P47972 NPTX2 Neuronal pentraxin-2 Homo sapiens (Human) PR
Q99J85 Nptxr Neuronal pentraxin receptor Mus musculus (Mouse) PR
O35764 Nptxr Neuronal pentraxin receptor Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MKFLAVLLAA GMLAFLGAVI CIIASVPLAA SPARALPGGA DNASVASGAA ASPGPQRSLS
70 80 90 100 110 120
ALHGAGGSAG PPALPGAPAA SAHPLPPGPL FSRFLCTPLA AACPSGAQQG DAAGAAPGER
130 140 150 160 170 180
EELLLLQSTA EQLRQTALQQ EARIRADQDT IRELTGKLGR CESGLPRGLQ GAGPRRDTMA
190 200 210 220 230 240
DGPWDSPALI LELEDAVRAL RDRIDRLEQE LPARVNLSAA PAPVSAVPTG LHSKMDQLEG
250 260 270 280 290 300
QLLAQVLALE KERVALSHSS RRQRQEVEKE LDVLQGRVAE LEHGSSAYSP PDAFKISIPI
310 320 330 340 350 360
RNNYMYARVR KALPELYAFT ACMWLRSRSS GTGQGTPFSY SVPGQANEIV LLEAGHEPME
370 380 390 400 410 420
LLINDKVAQL PLSLKDNGWH HICIAWTTRD GLWSAYQDGE LQGSGENLAA WHPIKPHGIL
430 440 450 460 470 480
ILGQEQDTLG GRFDATQAFV GDIAQFNLWD HALTPAQVLG IANCTAPLLG NVLPWEDKLV
490
EAFGGATKAA FDVCKGRAKA