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 P08912

Entry ID Method Resolution Chain Position Source
6OL9 X-ray 254 A PDB
AF-P08912-F1 Predicted AlphaFoldDB

376 variants for P08912

Variant ID(s) Position Change Description Diseaes Association Provenance
CA391601008
rs1202147910
3 G>E No ClinGen
TOPMed
CA7462566
rs769513293
6 Y>C No ClinGen
ExAC
gnomAD
rs778712394
CA7462565
6 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA7462567
rs772815473
9 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA391601051
rs772815473
9 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA391601061
rs1303811935
11 T>N No ClinGen
gnomAD
rs759462080
CA7462571
12 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs767530640
CA391601073
13 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs767530640
CA7462572
13 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7462574
rs141408054
16 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7462573
rs111448827
16 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770980808
CA268598893
18 N>Y No ClinGen
Ensembl
CA7462575
rs778087279
19 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA268598953
rs958054721
21 P>L No ClinGen
TOPMed
gnomAD
CA7462577
rs757707285
21 P>S No ClinGen
ExAC
gnomAD
rs757707285
CA391601120
21 P>T No ClinGen
ExAC
gnomAD
CA7462578
COSM960769
rs571543498
24 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1389722827
CA391601141
24 R>H No ClinGen
TOPMed
gnomAD
rs571543498
CA391601139
24 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7462579
rs746417976
29 E>K No ClinGen
ExAC
gnomAD
rs1386122008
CA391601187
30 V>D No ClinGen
gnomAD
CA391601182
rs1388695811
30 V>I No ClinGen
gnomAD
rs772610553
CA7462580
31 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 32 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7462582
rs747729875
32 T>N No ClinGen
ExAC
gnomAD
rs1296613659
CA391601203
33 I>T No ClinGen
gnomAD
rs769123399
CA7462583
35 A>T No ClinGen
ExAC
gnomAD
rs1229190809
CA391601218
36 V>L No ClinGen
gnomAD
rs772868482
CA7462584
37 T>N No ClinGen
ExAC
gnomAD
rs762582950
CA7462585
39 V>M No ClinGen
ExAC
gnomAD
rs770776737
CA7462586
42 L>M No ClinGen
ExAC
gnomAD
CA391601259
rs1254247744
43 I>F No ClinGen
gnomAD
CA268599015
rs781435131
43 I>N No ClinGen
Ensembl
CA391601273
rs1261513833
45 I>T No ClinGen
gnomAD
TCGA novel 47 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7462587
COSM1323238
rs774098229
50 L>F ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7462588
rs137922280
52 M>I No ClinGen
ESP
ExAC
TOPMed
CA391601318
rs1172869026
52 M>T No ClinGen
gnomAD
CA7462589
rs78383790
53 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775251308
CA7462590
54 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs77491512
CA268599045
55 F>L No ClinGen
TOPMed
CA391601348
rs1165544868
57 V>I No ClinGen
gnomAD
CA391601366
rs1432811123
59 S>T No ClinGen
TOPMed
gnomAD
CA7462592
rs764211174
61 L>F No ClinGen
ExAC
gnomAD
TCGA novel 62 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391601407
rs1309073991
65 N>S No ClinGen
gnomAD
rs1344278002
CA391601464
73 A>D No ClinGen
TOPMed
rs765747758
CA7462595
74 C>Y No ClinGen
ExAC
gnomAD
TCGA novel 75 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750841044
CA7462596
76 D>E No ClinGen
ExAC
gnomAD
CA391601505
rs1233307744
79 I>T No ClinGen
TOPMed
gnomAD
CA391601540
rs1337536950
COSM1236745
84 M>I pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1274511792
CA391601539
84 M>T No ClinGen
gnomAD
rs758654227
CA7462597
86 L>I No ClinGen
ExAC
gnomAD
CA391601575
rs1260480118
89 T>I No ClinGen
gnomAD
TCGA novel 92 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 92 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7462600
rs755710294
95 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1475008854
COSM554673
CA391601614
95 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 96 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391601626
rs1188660374
97 A>T No ClinGen
TOPMed
gnomAD
rs1420151622
CA391601631
97 A>V No ClinGen
TOPMed
gnomAD
rs777258099
CA7462601
98 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs748975974
CA7462602
98 L>P No ClinGen
ExAC
gnomAD
rs1567494122
CA391601636
99 G>R No ClinGen
Ensembl
CA268599151
rs367857442
100 S>G No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 102 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs878903159
CA268599195
102 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs371168058
CA7462604
102 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs982177022
CA268599223
103 C>Y No ClinGen
Ensembl
TCGA novel 104 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745706794
CA7462605
104 D>H No ClinGen
ExAC
gnomAD
TCGA novel 105 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771696857
CA7462606
106 W>R No ClinGen
ExAC
gnomAD
rs775509079
CA7462607
109 L>P No ClinGen
ExAC
gnomAD
rs1227060620
CA391601699
109 L>V No ClinGen
gnomAD
rs1450361764
CA391601706
110 D>G No ClinGen
gnomAD
rs746108100
CA7462609
112 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1211891263
CA391601745
116 A>T No ClinGen
TOPMed
gnomAD
COSM319455
rs1251321713
CA391601759
118 V>F lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA7462612
rs765587498
119 M>L No ClinGen
ExAC
gnomAD
CA391601793
rs1019440264
123 V>A No ClinGen
TOPMed
gnomAD
rs1019440264
CA268599264
123 V>E No ClinGen
TOPMed
gnomAD
CA7462613
rs368522225
125 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766642500
CA7462615
128 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7462616
rs752179210
128 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs994460733
CA268599293
132 I>V No ClinGen
TOPMed
gnomAD
rs1434926817
CA391601888
137 T>I No ClinGen
gnomAD
rs372901279
CA7462618
139 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7462617
rs372901279
139 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1288575176
CA391601898
139 R>W No ClinGen
TOPMed
rs375495476
CA7462619
141 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7462620
rs200634273
COSM77472
142 R>C ovary large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs200634273
CA7462621
142 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1226004026
CA391601914
142 R>H No ClinGen
gnomAD
CA268599339
rs769848110
COSM1580708
144 P>A haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs146231539
CA7462622
144 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA268599340
rs146231539
144 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369937575
CA7462624
145 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391601926
rs369937575
145 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1482207132
CA391601939
146 R>S No ClinGen
gnomAD
CA391601947
rs1411576139
148 G>S No ClinGen
TOPMed
CA391601961
rs1233556277
150 M>L No ClinGen
TOPMed
gnomAD
rs1473655817
CA391601963
150 M>T No ClinGen
TOPMed
rs1233556277
CA391601960
150 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 152 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA268599360
rs916279192
152 G>V No ClinGen
TOPMed
CA391602037
rs1175111187
161 L>V No ClinGen
gnomAD
CA391602065
rs1328240583
165 A>V No ClinGen
TOPMed
CA391602068
rs1268452803
166 I>V No ClinGen
TOPMed
CA7462629
rs148191916
167 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391602084
rs1409014295
168 C>F No ClinGen
gnomAD
rs1328896835
CA391602091
169 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 175 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1320914793
CA391602135
175 K>T No ClinGen
TOPMed
CA7462631
rs773544114
176 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs769941156
CA7462630
176 R>W No ClinGen
ExAC
gnomAD
CA7462633
rs766804444
178 V>D No ClinGen
ExAC
gnomAD
rs1370704585
CA391602151
178 V>F No ClinGen
gnomAD
CA391602154
rs1306096452
179 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA391602163
rs1340257918
180 L>P No ClinGen
gnomAD
rs1214230364
CA391602179
182 E>D No ClinGen
TOPMed
gnomAD
CA7462634
rs751845261
183 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs1433452311
CA391602219
188 L>F No ClinGen
TOPMed
TCGA novel 190 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7462636
rs768040535
192 T>I No ClinGen
ExAC
gnomAD
CA7462639
rs778271152
197 T>A No ClinGen
ExAC
gnomAD
rs1049755751
CA268599464
199 I>T No ClinGen
TOPMed
rs779710796
CA7462642
199 I>V No ClinGen
ExAC
gnomAD
rs1420985408
CA391602301
201 A>S No ClinGen
gnomAD
rs1394309313
CA391602326
204 I>N No ClinGen
gnomAD
TCGA novel 204 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 207 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 207 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1328286304
CA391602347
208 V>L No ClinGen
gnomAD
CA268599466
rs1008302096
209 M>V No ClinGen
TOPMed
CA7462648
rs199681177
211 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1597395945
CA391602372
212 L>I No ClinGen
Ensembl
rs773138215
CA7462649
214 C>Y No ClinGen
ExAC
gnomAD
CA7462650
rs763280962
COSM1678337
215 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7462652
COSM960775
rs774588600
215 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs541902330
CA7462654
218 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs574531423
CA7462653
218 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1024030545
CA268599494
219 E>D No ClinGen
Ensembl
CA7462656
rs753260999
219 E>K No ClinGen
ExAC
gnomAD
CA391602443
rs1482092786
223 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA268599495
COSM960776
rs749608809
223 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA391602466
rs1167787583
226 D>E No ClinGen
gnomAD
CA391602462
rs1462405930
226 D>Y No ClinGen
gnomAD
CA7462659
rs749924788
227 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1313450341
CA391602476
228 A>G No ClinGen
TOPMed
CA7462661
rs779578047
229 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs751199391
CA7462662
230 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1597396006
CA391602489
230 L>R No ClinGen
Ensembl
rs754882320
CA7462663
232 G>C No ClinGen
ExAC
gnomAD
rs754882320
CA268599509
232 G>R No ClinGen
ExAC
gnomAD
CA391602510
rs1365038917
234 D>Y No ClinGen
TOPMed
CA268599517
rs973017331
235 S>P No ClinGen
TOPMed
CA391602532
rs1231896104
237 T>I No ClinGen
gnomAD
rs1567494443
CA391602546
239 A>V No ClinGen
Ensembl
rs748139020
CA7462665
241 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7462666
rs769593960
242 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs769263866
CA268599549
248 A>V No ClinGen
Ensembl
rs140851264
CA7462670
255 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376737817
CA7462672
255 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376737817
CA7462671
255 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475941647
CA391602657
256 C>F No ClinGen
gnomAD
CA391602667
rs1190681112
258 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760980577
CA7462674
258 R>Q No ClinGen
ExAC
gnomAD
rs1470076996
CA391602681
260 T>I No ClinGen
gnomAD
rs1159468531
CA391602682
261 L>M No ClinGen
gnomAD
CA391602692
rs1410650159
262 A>V No ClinGen
gnomAD
CA391602693
rs1433063698
263 Q>K No ClinGen
gnomAD
CA7462676
rs777128975
264 R>Q No ClinGen
ExAC
gnomAD
CA7462675
rs764541495
264 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7462677
rs762383940
266 R>K No ClinGen
ExAC
gnomAD
TCGA novel
rs1239713658
CA391602731
268 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA7462678
rs145732165
268 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200786354
CA7462679
269 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391602743
rs1345518801
270 S>C No ClinGen
gnomAD
CA7462682
rs752560317
271 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs767472455
CA7462681
271 W>S No ClinGen
ExAC
gnomAD
CA7462683
rs755895467
275 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777572782
CA7462684
275 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA391602774
rs1271885825
276 R>G No ClinGen
TOPMed
rs1365875661
CA391602783
277 S>N No ClinGen
gnomAD
CA7462686
rs1555521392
278 T>P No ClinGen
Ensembl
rs914764876
CA268599654
281 T>S No ClinGen
TOPMed
gnomAD
CA391602827
rs1395929593
284 P>Q No ClinGen
TOPMed
gnomAD
CA391602825
rs1157077187
284 P>S No ClinGen
gnomAD
CA7462689
rs757339104
285 S>F No ClinGen
ExAC
gnomAD
CA7462690
rs778959312
289 G>V No ClinGen
ExAC
gnomAD
CA391602871
rs1312406713
291 S>I No ClinGen
TOPMed
rs377423553
CA7462691
292 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7462693
rs148495102
293 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA7462692
rs148495102
293 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1224814668
CA391602894
295 A>S No ClinGen
TOPMed
gnomAD
CA391602895
rs1224814668
295 A>T No ClinGen
TOPMed
gnomAD
rs142978946
CA268599692
302 T>I No ClinGen
ESP
TOPMed
CA7462696
rs777064271
303 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA391602947
rs777064271
303 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA391602975
rs1456264132
306 Y>* No ClinGen
TOPMed
rs937944360
CA268599710
306 Y>S No ClinGen
Ensembl
rs1367706605
CA391602982
307 P>L No ClinGen
TOPMed
CA391602979
rs1240631999
307 P>S No ClinGen
gnomAD
rs765851212
CA7462698
310 E>A No ClinGen
ExAC
gnomAD
CA7462699
rs773978770
311 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374089666
CA7462700
313 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767306890
CA7462701
314 K>Q No ClinGen
ExAC
gnomAD
rs1597396207
CA391603027
314 K>R No ClinGen
Ensembl
CA391603038
rs141362421
316 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7462703
rs141362421
COSM433735
316 A>T breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763934955
CA7462704
321 L>F No ClinGen
ExAC
gnomAD
CA391603078
rs1234875988
322 Q>H No ClinGen
gnomAD
rs753785210
CA7462705
322 Q>R No ClinGen
ExAC
gnomAD
rs762280733
CA7462706
323 V>L No ClinGen
ExAC
gnomAD
rs1277421004
CA391603089
324 V>A No ClinGen
gnomAD
rs1294484353
CA391603094
325 Y>C No ClinGen
TOPMed
gnomAD
rs779012334
CA7462707
325 Y>H No ClinGen
ExAC
gnomAD
rs1326489575
CA391603107
327 S>G No ClinGen
gnomAD
rs1270763778
CA391603119
328 Q>H No ClinGen
gnomAD
CA7462708
rs745980649
328 Q>P No ClinGen
ExAC
gnomAD
rs145125191
CA7462709
329 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780268468
CA7462710
COSM1707972
329 G>D skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA391603126
rs1245948944
330 K>E No ClinGen
TOPMed
rs747242630
CA7462711
330 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7462714
rs748655667
333 P>L No ClinGen
ExAC
gnomAD
CA391603152
rs748655667
333 P>R No ClinGen
ExAC
gnomAD
CA391603155
rs1195882263
334 G>W No ClinGen
gnomAD
CA7462715
rs140949296
335 E>K No ClinGen
ESP
ExAC
TOPMed
rs773811120
CA7462716
336 E>* No ClinGen
ExAC
gnomAD
CA7462717
rs759117995
337 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs1270541618
CA391603175
337 F>L No ClinGen
gnomAD
rs1330925349
CA391603188
339 A>T No ClinGen
TOPMed
CA7462719
rs775338128
342 T>N No ClinGen
ExAC
gnomAD
rs1451429730
CA391603217
343 E>K No ClinGen
TOPMed
gnomAD
CA7462720
rs760369967
343 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs17854161
CA268599867
345 T>I No ClinGen
Ensembl
rs772800399
CA268599899
347 V>M No ClinGen
TOPMed
CA391603255
rs1383585565
348 K>N No ClinGen
TOPMed
gnomAD
rs753645354
CA7462722
349 A>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 349 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201606275
CA7462723
351 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7462724
rs150113487
353 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450437323
CA391603291
354 S>G No ClinGen
TOPMed
rs1233205595 354 S>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA7462726
rs138383914
355 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750302868
CA7462725
355 D>H No ClinGen
ExAC
rs1214012533
CA391603308
COSM960778
356 Y>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs755207183
CA7462729
359 P>L No ClinGen
ExAC
gnomAD
CA7462728
rs566576492
359 P>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 360 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA268600039
rs2702304
362 L>F No ClinGen
gnomAD
TCGA novel 363 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA268600041
rs199809301
364 S>Y No ClinGen
Ensembl
CA7462732
rs77994620
365 P>L No ClinGen
ExAC
gnomAD
rs770213768
CA7462733
366 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs778435512
CA7462734
367 A>G No ClinGen
ExAC
gnomAD
CA7462735
rs749796523
368 A>T No ClinGen
ExAC
gnomAD
CA391603381
rs1281393384
369 H>D No ClinGen
TOPMed
CA268600082
rs765881650
369 H>P No ClinGen
Ensembl
rs1567494809
CA391603411
373 S>N No ClinGen
Ensembl
TCGA novel 374 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7462736
rs149234550
377 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA391603442
rs1231117411
377 V>L No ClinGen
TOPMed
rs143611760
CA268600097
379 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143611760
CA7462737
379 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1161528987
CA391603464
380 K>N No ClinGen
gnomAD
rs138220644
CA7462739
382 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1381925149
CA391603487
384 V>G No ClinGen
gnomAD
CA7462741
rs376722030
385 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143713868
CA7462742
387 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7462743
rs143713868
387 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147203083
CA7462745
389 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 391 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA268600199
rs375883438
393 T>N No ClinGen
ESP
TOPMed
gnomAD
rs754976901
CA7462747
393 T>S No ClinGen
ExAC
gnomAD
rs141468819
CA268600213
395 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391603561
rs1479606240
395 N>S No ClinGen
gnomAD
rs1246594524
CA391603558
395 N>Y No ClinGen
TOPMed
CA268600236
rs75285616
397 C>W No ClinGen
Ensembl
rs1250967593
CA391603581
398 H>L No ClinGen
gnomAD
CA391603597
rs1597396438
400 V>G No ClinGen
Ensembl
CA391603604
rs1349533670
401 K>N No ClinGen
gnomAD
CA391603615
rs1465544408
403 M>L No ClinGen
TOPMed
CA391603614
rs1465544408
403 M>V No ClinGen
TOPMed
rs1171546257
CA391603627
404 P>L No ClinGen
gnomAD
CA391603624
rs1441376767
404 P>S No ClinGen
gnomAD
CA7462750
rs756602032
406 P>A No ClinGen
ExAC
gnomAD
rs1177548497
CA391603658
409 V>E No ClinGen
gnomAD
RCV000947608
CA7462751
rs74007678
412 E>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200142699
CA268600237
413 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs200142699
CA7462752
413 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA268600259
rs544489741
415 T>A No ClinGen
gnomAD
CA7462753
rs193093417
COSM3744559
415 T>M Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1362918745
CA391603715
418 L>P No ClinGen
TOPMed
rs1435540126
CA391603736
421 N>K No ClinGen
TOPMed
rs1597396482
CA391603733
421 N>T No ClinGen
Ensembl
rs1346655192
CA391603742
422 P>R No ClinGen
TOPMed
rs1305906753
CA391603740
422 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776403246
CA7462757
423 S>N No ClinGen
ExAC
gnomAD
rs747796110
CA7462758
427 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA7462759
rs149897590
428 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772971999
CA7462760
429 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs772971999
CA391603788
429 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs762689264
CA7462761
429 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1388819762
CA391603794
430 K>T No ClinGen
TOPMed
rs774093394
CA7462763
431 R>T No ClinGen
ExAC
gnomAD
rs767479515
CA7462765
432 V>G No ClinGen
ExAC
gnomAD
CA7462764
rs759671343
432 V>L No ClinGen
ExAC
CA7462766
rs753027422
435 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA391603821
rs753027422
435 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs541846772
CA7462769
437 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs756372866
CA391603833
437 E>K No ClinGen
ExAC
gnomAD
CA7462767
rs756372866
437 E>Q No ClinGen
ExAC
gnomAD
CA268600467
rs930066323
443 T>A No ClinGen
TOPMed
rs146054258
CA7462770
443 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1360152982
CA391603879
444 L>V No ClinGen
gnomAD
CA7462771
rs373677487
447 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 448 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 450 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367796610
CA7462772
450 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA268600479
rs1044926847
452 I>F No ClinGen
TOPMed
rs1468799064
CA391603974
458 Y>* No ClinGen
gnomAD
rs1223290315
CA391603989
460 I>M No ClinGen
gnomAD
CA391603996
CA391603998
rs1474879981
461 M>I No ClinGen
TOPMed
gnomAD
rs1239942683
CA391603994
461 M>T No ClinGen
gnomAD
rs769461692
COSM1580711
CA7462776
464 V>A haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs745879436
CA7462775
464 V>I No ClinGen
ExAC
gnomAD
TCGA novel 466 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7462778
rs749089359
467 F>L No ClinGen
ExAC
gnomAD
CA268600545
rs577587036
469 D>E No ClinGen
Ensembl
CA7462779
rs770570610
470 K>E No ClinGen
ExAC
gnomAD
rs867715071
CA268600573
470 K>M No ClinGen
Ensembl
rs770570610
CA7462780
470 K>Q No ClinGen
ExAC
gnomAD
CA391604088
rs1369305999
476 L>P No ClinGen
TOPMed
TCGA novel 476 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775687892
CA7462783
477 W>R No ClinGen
ExAC
gnomAD
rs760785722
CA7462784
478 H>L No ClinGen
ExAC
gnomAD
CA391604100
rs1231371997
478 H>Y No ClinGen
gnomAD
rs764442245
CA7462785
480 G>D No ClinGen
ExAC
gnomAD
rs764442245
CA391604116
480 G>V No ClinGen
ExAC
gnomAD
rs1168517029
CA391604157
486 V>I No ClinGen
TOPMed
rs1410981312
CA391604165
487 N>D No ClinGen
TOPMed
rs765515490
CA7462788
488 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA7462789
rs750982314
492 P>R No ClinGen
ExAC
gnomAD
CA391604221
rs1186621097
495 Y>C No ClinGen
gnomAD
CA268600659
rs1018487185
498 C>R No ClinGen
TOPMed
CA391604265
rs1417689718
501 T>I No ClinGen
gnomAD
CA7462792
rs752238862
503 R>S No ClinGen
ExAC
gnomAD
rs1165318205
CA391604285
504 K>N No ClinGen
gnomAD
rs112012488
CA268600670
504 K>R No ClinGen
TOPMed
TCGA novel 507 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755558707
CA7462793
510 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1400312143
CA391604343
513 R>* No ClinGen
gnomAD
CA7462794
rs367778274
513 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM228175
CA391604352
rs1312353774
514 W>* Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA391604351
COSM228175
rs1412945989
514 W>* skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA391604347
CA391604346
rs1362521607
514 W>R No ClinGen
gnomAD
CA391604356
rs1340950180
515 K>E No ClinGen
TOPMed
gnomAD
CA391604355
rs1340950180
515 K>Q No ClinGen
TOPMed
gnomAD
CA7462795
rs748922643
516 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs778538576
CA7462799
518 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs771923772
CA7462801
519 V>M No ClinGen
ExAC
gnomAD
CA391604408
rs1567495227
522 K>* No ClinGen
Ensembl
rs775528294
CA7462802
522 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA7462803
rs144938376
523 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768844068
CA7462804
525 W>* No ClinGen
ExAC
gnomAD
rs777060789
CA7462805
526 Q>* No ClinGen
ExAC
gnomAD
rs1597396793
CA391604449
528 N>D No ClinGen
Ensembl
CA7462808
rs750778878
528 N>K No ClinGen
ExAC
gnomAD
CA7462807
rs376934994
528 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1597396808
CA391604455
529 S>G No ClinGen
Ensembl
rs1163204283
CA391604457
529 S>N No ClinGen
TOPMed
CA391604463
rs763340823
530 K>E No ClinGen
ExAC
gnomAD
rs763340823
CA7462809
530 K>Q No ClinGen
ExAC
gnomAD

No associated diseases with P08912

1 regional properties for P08912

Type Name Position InterPro Accession
domain Olfactomedin-like domain 230 - 489 IPR003112

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Multi-pass membrane protein
  • Postsynaptic cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
integral component of plasma membrane The component of the plasma 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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

4 GO annotations of molecular function

Name Definition
G protein-coupled acetylcholine receptor activity Combining with acetylcholine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
G protein-coupled serotonin receptor activity Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates.
neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.
phosphatidylinositol phospholipase C activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).

8 GO annotations of biological process

Name Definition
adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor, and ending with the regulation of a downstream cellular process.
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
dopamine transport The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline.
G protein-coupled acetylcholine receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide.
gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.
regulation of phosphatidylinositol dephosphorylation Any process that modulates the frequency, rate or extent of the chemical reaction involving the removal of one or more phosphate groups from a phosphatidylinositol.
transmission of nerve impulse The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission.

28 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P30546 HRH1 Histamine H1 receptor Bos taurus (Bovine) PR
P41984 CHRM3 Muscarinic acetylcholine receptor M3 Bos taurus (Bovine) PR
P41985 CHRM2 Muscarinic acetylcholine receptor M2 Bos taurus (Bovine) PR
P17200 CHRM4 Muscarinic acetylcholine receptor M4 Gallus gallus (Chicken) PR
P49578 CHRM3 Muscarinic acetylcholine receptor M3 Gallus gallus (Chicken) PR
P30372 CHRM2 Muscarinic acetylcholine receptor M2 Gallus gallus (Chicken) PR
Q5IS53 CHRM5 Muscarinic acetylcholine receptor M5 Pan troglodytes (Chimpanzee) PR
P08172 CHRM2 Muscarinic acetylcholine receptor M2 Homo sapiens (Human) PR
P08173 CHRM4 Muscarinic acetylcholine receptor M4 Homo sapiens (Human) PR
P20309 CHRM3 Muscarinic acetylcholine receptor M3 Homo sapiens (Human) PR
P35367 HRH1 Histamine H1 receptor Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P11229 CHRM1 Muscarinic acetylcholine receptor M1 Homo sapiens (Human) PR
P70174 Hrh1 Histamine H1 receptor Mus musculus (Mouse) PR
P12657 Chrm1 Muscarinic acetylcholine receptor M1 Mus musculus (Mouse) PR
P32211 Chrm4 Muscarinic acetylcholine receptor M4 Mus musculus (Mouse) PR
Q9ERZ3 Chrm3 Muscarinic acetylcholine receptor M3 Mus musculus (Mouse) PR
Q9ERZ4 Chrm2 Muscarinic acetylcholine receptor M2 Mus musculus (Mouse) PR
Q920H4 Chrm5 Muscarinic acetylcholine receptor M5 Mus musculus (Mouse) PR
P04761 CHRM1 Muscarinic acetylcholine receptor M1 Sus scrofa (Pig) PR
P31390 Hrh1 Histamine H1 receptor Rattus norvegicus (Rat) PR
P08482 Chrm1 Muscarinic acetylcholine receptor M1 Rattus norvegicus (Rat) PR
P08483 Chrm3 Muscarinic acetylcholine receptor M3 Rattus norvegicus (Rat) PR
P08911 Chrm5 Muscarinic acetylcholine receptor M5 Rattus norvegicus (Rat) PR
P56489 CHRM1 Muscarinic acetylcholine receptor M1 Macaca mulatta (Rhesus macaque) PR
P56490 CHRM5 Muscarinic acetylcholine receptor M5 Macaca mulatta (Rhesus macaque) PR
Q9U7D5 gar-3 Muscarinic acetylcholine receptor gar-3 Caenorhabditis elegans PR
10 20 30 40 50 60
MEGDSYHNAT TVNGTPVNHQ PLERHRLWEV ITIAAVTAVV SLITIVGNVL VMISFKVNSQ
70 80 90 100 110 120
LKTVNNYYLL SLACADLIIG IFSMNLYTTY ILMGRWALGS LACDLWLALD YVASNASVMN
130 140 150 160 170 180
LLVISFDRYF SITRPLTYRA KRTPKRAGIM IGLAWLISFI LWAPAILCWQ YLVGKRTVPL
190 200 210 220 230 240
DECQIQFLSE PTITFGTAIA AFYIPVSVMT ILYCRIYRET EKRTKDLADL QGSDSVTKAE
250 260 270 280 290 300
KRKPAHRALF RSCLRCPRPT LAQRERNQAS WSSSRRSTST TGKPSQATGP SANWAKAEQL
310 320 330 340 350 360
TTCSSYPSSE DEDKPATDPV LQVVYKSQGK ESPGEEFSAE ETEETFVKAE TEKSDYDTPN
370 380 390 400 410 420
YLLSPAAAHR PKSQKCVAYK FRLVVKADGN QETNNGCHKV KIMPCPFPVA KEPSTKGLNP
430 440 450 460 470 480
NPSHQMTKRK RVVLVKERKA AQTLSAILLA FIITWTPYNI MVLVSTFCDK CVPVTLWHLG
490 500 510 520 530
YWLCYVNSTV NPICYALCNR TFRKTFKMLL LCRWKKKKVE EKLYWQGNSK LP