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

5 structures for Q9H3N8

Entry ID Method Resolution Chain Position Source
7YFC EM 300 A R 1-390 PDB
7YFD EM 310 A R 1-390 PDB
8HN8 EM 300 A R 4-390 PDB
8HOC EM 300 A R 4-390 PDB
AF-Q9H3N8-F1 Predicted AlphaFoldDB

302 variants for Q9H3N8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA402080983
rs1280694062
2 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 4 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1319377251
CA402080999
4 T>I No ClinGen
gnomAD
CA297146731
rs953923437
5 N>H No ClinGen
TOPMed
rs763077385
CA8919698
6 S>R No ClinGen
ExAC
gnomAD
CA8919699
rs148759744
7 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1253001271
CA402081027
9 N>H No ClinGen
TOPMed
CA8919703
rs753662175
12 L>P No ClinGen
ExAC
gnomAD
CA8919705
rs764937377
14 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8919704
rs759524396
14 T>S No ClinGen
ExAC
gnomAD
CA297146780
rs915066300
15 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs752596225
CA8919706
15 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 16 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758027653
CA8919707
16 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8919708
rs763780845
17 T>S No ClinGen
ExAC
gnomAD
CA402081098
rs1276645749
20 F>L No ClinGen
gnomAD
TCGA novel 20 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8919711
rs756709978
21 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA297146804
rs1046743172
22 M>I No ClinGen
TOPMed
gnomAD
CA8919713
rs746290703
23 S>F No ClinGen
ExAC
gnomAD
CA402081121
rs1259376259
24 L>* No ClinGen
gnomAD
CA8919714
rs756707102
24 L>V No ClinGen
ExAC
gnomAD
rs1450064221
CA402081145
28 A>T No ClinGen
gnomAD
TCGA novel 28 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169133590
CA402081153
29 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA402081164
rs1422530312
30 M>I No ClinGen
gnomAD
rs1413488598
CA402081168
31 L>V No ClinGen
gnomAD
rs1361212669
CA402081188
34 A>S No ClinGen
gnomAD
CA402081209
rs1366526991
37 I>M No ClinGen
gnomAD
CA8919718
rs768968709
37 I>T No ClinGen
ExAC
gnomAD
rs749718845
CA8919717
37 I>V No ClinGen
ExAC
gnomAD
CA402081230
rs1402626198
40 F>L No ClinGen
TOPMed
rs1437970329
CA402081231
41 V>M No ClinGen
gnomAD
rs1273146424
CA402081243
43 D>N No ClinGen
gnomAD
CA402081252
rs1219988570
44 K>E No ClinGen
gnomAD
rs377165171
CA8919720
44 K>R No ClinGen
ESP
ExAC
gnomAD
rs773411086
CA297146845
45 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs184989207
CA8919721
45 N>S No ClinGen
1000Genomes
ExAC
TOPMed
CA8919724
COSM1209976
rs765269581
49 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA402081285
rs765269581
49 R>G No ClinGen
ExAC
gnomAD
COSM987192
rs775120560
CA8919725
49 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762701153
CA8919726
50 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1599773091
CA402081295
51 S>R No ClinGen
Ensembl
CA402081310
rs1204924816
52 Y>* No ClinGen
Ensembl
rs1244414119
CA402081304
52 Y>H No ClinGen
gnomAD
CA8919727
rs763901600
53 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs751158644
CA8919728
54 F>L No ClinGen
ExAC
gnomAD
rs142480341
CA297146913
57 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142480341
CA8919730
57 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1402881096
CA402081347
58 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200830814
CA297146935
59 I>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs372826759
CA297146938
60 S>A No ClinGen
Ensembl
rs1459658537
CA402081362
61 D>H No ClinGen
gnomAD
rs1276741673
CA402081378
63 F>L No ClinGen
gnomAD
rs760192203
CA8919751
65 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA402081760
rs1209506672
67 I>V No ClinGen
TOPMed
rs1037174077
CA297151509
68 S>F No ClinGen
Ensembl
rs1217084990
CA402081765
68 S>T No ClinGen
TOPMed
gnomAD
CA8919752
rs765826743
69 I>V No ClinGen
ExAC
gnomAD
CA8919753
rs754336963
70 P>L No ClinGen
ExAC
gnomAD
rs779410233
CA8919755
73 I>L No ClinGen
ExAC
gnomAD
rs146877850
CA8919756
76 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1054769052
CA297151521
77 L>M No ClinGen
TOPMed
rs1473374180
CA402081826
78 F>L No ClinGen
gnomAD
rs747220498
CA8919759
79 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8919761
rs770990012
80 W>L No ClinGen
ExAC
gnomAD
rs1404400019
CA402081848
81 D>N No ClinGen
TOPMed
rs373246547
CA8919763
83 G>E No ClinGen
ESP
ExAC
gnomAD
CA8919762
rs781258002
83 G>R No ClinGen
ExAC
gnomAD
rs768633995
CA8919764
85 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA297151537
rs910874713
86 I>F No ClinGen
TOPMed
gnomAD
CA297151543
rs375203892
86 I>N No ClinGen
ESP
TOPMed
gnomAD
CA402081886
rs375203892
86 I>T No ClinGen
ESP
TOPMed
gnomAD
CA8919767
COSM148411
rs80252896
88 V>G stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402081896
rs774108097
88 V>I No ClinGen
ExAC
gnomAD
rs774108097
CA8919766
88 V>L No ClinGen
ExAC
gnomAD
rs771792972
CA8919768
90 W>* No ClinGen
ExAC
CA402081920
rs1227001218
91 L>P No ClinGen
gnomAD
rs771552631
CA8919770
93 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1198377600
CA402081946
95 Y>S No ClinGen
gnomAD
rs760258503
COSM417878
CA402081950
96 L>V Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA297151571
rs902335865
97 L>F No ClinGen
Ensembl
rs1443377753
CA402081961
98 C>R No ClinGen
gnomAD
CA402081977
rs1185924864
100 A>E No ClinGen
TOPMed
gnomAD
CA402081979
rs1185924864
100 A>V No ClinGen
TOPMed
gnomAD
CA402081980
rs1449443009
101 S>T No ClinGen
gnomAD
CA402081991
rs1169285626
102 V>G No ClinGen
gnomAD
CA402082012
rs1464670264
105 I>T No ClinGen
gnomAD
CA8919775
rs140250696
109 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753290433
CA402082040
109 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs878961770
CA297151603
110 Y>S No ClinGen
Ensembl
rs758743592
CA8919777
111 D>E No ClinGen
ExAC
gnomAD
CA8919778
rs778017267
112 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8919779
rs751742130
COSM987195
112 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1434620794
CA402082076
115 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA402082081
rs1295593193
116 V>D No ClinGen
gnomAD
CA402082087
COSM708267
rs1379260154
117 S>* lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA402082084
rs1303974510
117 S>T No ClinGen
TOPMed
gnomAD
rs1308762388
CA402082096
118 N>K No ClinGen
TOPMed
gnomAD
CA402082408
rs1209307755
120 V>A No ClinGen
gnomAD
CA8919795
rs764865289
120 V>L No ClinGen
ExAC
gnomAD
rs892168399
CA297155724
122 Y>C No ClinGen
Ensembl
rs776009766
CA8919796
122 Y>H No ClinGen
ExAC
gnomAD
rs763378382
CA8919797
123 R>G No ClinGen
ExAC
gnomAD
rs1462297615
COSM1680287
CA402082445
123 R>I large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs764386766
CA297155738
CA402082474
125 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA297155740
rs894564616
127 T>S No ClinGen
TOPMed
rs767733893
CA8919799
129 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs1321327368
CA402082554
132 I>F No ClinGen
TOPMed
CA402082561
rs1599781021
132 I>T No ClinGen
Ensembl
CA402082578
rs1310900798
133 V>A No ClinGen
TOPMed
CA297155744
rs995965195
134 T>A No ClinGen
TOPMed
rs1159616683
CA402082593
134 T>I No ClinGen
gnomAD
rs143995992
CA8919801
136 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1365663685
CA402082614
136 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs11665084
VAR_033477
CA8919802
138 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8919804
rs780120010
139 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA297155811
rs953437853
141 V>L No ClinGen
TOPMed
gnomAD
CA402082673
rs953437853
141 V>M No ClinGen
TOPMed
gnomAD
rs116172621
CA8919807
143 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8919806
rs116172621
143 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8919808
rs777602176
143 A>V No ClinGen
ExAC
gnomAD
rs1437703802
CA402082703
145 L>S No ClinGen
TOPMed
CA402082710
rs1177554169
146 V>G No ClinGen
gnomAD
CA8919810
rs770882337
146 V>M No ClinGen
ExAC
gnomAD
TCGA novel 147 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA297155840
rs140777456
150 M>T No ClinGen
ESP
rs1164005657
CA402082732
150 M>V No ClinGen
gnomAD
CA297155844
rs966116549
152 L>R No ClinGen
Ensembl
CA8919813
rs745531655
153 V>L No ClinGen
ExAC
gnomAD
CA8919814
rs769367107
156 S>P No ClinGen
ExAC
gnomAD
CA402082799
rs1263890084
159 D>G No ClinGen
TOPMed
rs774932796
CA8919815
161 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8919817
rs764553661
162 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1308578495
CA402082818
162 S>N No ClinGen
TOPMed
rs1361424243
CA402082823
163 E>K No ClinGen
TOPMed
gnomAD
rs1377455216
CA402082831
164 C>S No ClinGen
gnomAD
CA8919819
rs376506423
166 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs376506423
CA297155870
166 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs150102935
CA8919820
167 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750584363
CA8919822
169 F>S No ClinGen
ExAC
gnomAD
CA8919823
rs756333613
170 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA402082885
rs1599781160
172 W>G No ClinGen
Ensembl
TCGA novel 174 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402082903
rs1182866234
174 I>V No ClinGen
gnomAD
CA297155893
rs866983669
176 A>V No ClinGen
TOPMed
gnomAD
rs1365841742
CA402082927
178 T>A No ClinGen
TOPMed
rs539561152
CA8919826
178 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1389020635
CA402082941
180 F>S No ClinGen
gnomAD
rs377649493
CA8919829
182 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377649493
CA8919830
182 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745515394
CA8919831
183 F>I No ClinGen
ExAC
gnomAD
CA8919833
rs775040150
184 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA402082993
rs1362766012
188 I>T No ClinGen
gnomAD
rs138611957
CA8919835
189 L>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774668999
CA8919836
189 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA402082997
rs1568099585
189 L>V No ClinGen
Ensembl
rs773632780
COSM987199
CA8919839
191 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 191 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402083014
rs1261809128
192 Y>H No ClinGen
TOPMed
CA297155936
rs771532637
194 N>K No ClinGen
gnomAD
CA297155939
rs907401824
195 M>V No ClinGen
Ensembl
TCGA novel 196 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760866060
CA402083061
198 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs760866060
CA402083062
198 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs760866060
CA8919840
198 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1257526905
CA402083077
200 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8919843
rs754123121
CA8919842
200 S>R No ClinGen
ExAC
gnomAD
CA402083096
rs1475473856
203 K>* No ClinGen
gnomAD
CA8919845
rs115230320
204 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA297155958
rs540401617
204 R>H No ClinGen
gnomAD
rs750289020
CA8919848
206 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8919847
VAR_033478
rs11662595
206 H>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA297155967
rs866992205
206 H>Y No ClinGen
gnomAD
CA402083168
rs1488326922
213 H>R No ClinGen
gnomAD
CA8919849
rs755757125
214 P>H No ClinGen
ExAC
gnomAD
rs1273203526
CA402083180
215 G>E No ClinGen
gnomAD
rs1432937492
CA402083177
215 G>R No ClinGen
gnomAD
CA297156012
rs892114598
219 V>I No ClinGen
Ensembl
CA8919851
rs748989538
221 S>F No ClinGen
ExAC
gnomAD
CA8919853
rs778488149
224 C>* No ClinGen
ExAC
gnomAD
rs748648984
CA8919854
226 H>N No ClinGen
ExAC
gnomAD
CA8919856
rs773536345
226 H>P No ClinGen
ExAC
gnomAD
rs748648984
CA8919855
226 H>Y No ClinGen
ExAC
gnomAD
rs760988839
CA8919857
228 F>L No ClinGen
ExAC
gnomAD
CA402083280
rs1599781320
231 R>S No ClinGen
Ensembl
rs1272027539
CA402083297
234 S>L No ClinGen
Ensembl
CA8919862
rs577543077
236 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1427146140
CA402083322
238 L>P No ClinGen
TOPMed
CA8919864
rs116360028
241 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1405726479
CA402083353
243 E>D No ClinGen
gnomAD
rs779909323
CA8919867
243 E>G No ClinGen
ExAC
gnomAD
rs1262732249
CA402083356
244 V>F No ClinGen
TOPMed
CA8919868
rs753364037
246 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8919870
rs754725501
251 E>A No ClinGen
ExAC
gnomAD
rs778380714
CA8919871
252 R>G No ClinGen
ExAC
gnomAD
CA402083407
rs1351309174
252 R>K No ClinGen
gnomAD
CA402083409
rs1351309174
252 R>T No ClinGen
gnomAD
rs1048981773
CA297156093
253 Q>* No ClinGen
TOPMed
CA402083437
rs1599781383
256 K>R No ClinGen
Ensembl
CA297156098
rs113494520
257 S>G No ClinGen
gnomAD
rs1287055396
CA402083443
257 S>N No ClinGen
gnomAD
rs771602529
CA8919874
260 M>T No ClinGen
ExAC
gnomAD
CA8919872
rs747705828
260 M>V No ClinGen
ExAC
gnomAD
CA8919875
rs575538185
261 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA8919876
rs376308497
262 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402083485
rs1265584652
263 S>* No ClinGen
TOPMed
TCGA novel 264 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201245563
CA8919878
264 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8919880
rs777124514
267 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs777124514
CA8919879
267 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA402083521
rs770107394
268 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA402083518
rs1471410364
268 N>S No ClinGen
gnomAD
rs775677397
CA8919882
269 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1599781415
CA402083529
270 N>D No ClinGen
Ensembl
CA8919883
rs763083138
271 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA402083544
rs1165608587
272 I>V No ClinGen
gnomAD
COSM74946
rs889005723
CA297156128
273 A>S ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
TCGA novel 275 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 276 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8919884
rs764288864
276 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA402083572
rs764288864
276 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 276 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867641946
CA297156148
280 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1338689960
CA402083608
281 Q>H No ClinGen
TOPMed
rs760664429
CA8919888
282 S>* No ClinGen
ExAC
TOPMed
rs773223791
CA8919887
282 S>P No ClinGen
ExAC
gnomAD
TCGA novel 283 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8919889
rs58154316
284 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764830115
CA8919892
288 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA8919893
rs752369810
289 Q>* No ClinGen
ExAC
gnomAD
rs866575154
CA297156195
291 E>* No ClinGen
Ensembl
rs1194888510
CA402083692
294 E>D No ClinGen
TOPMed
gnomAD
rs777272194
CA8919895
297 R>G No ClinGen
ExAC
gnomAD
rs1439952650
CA402083708
297 R>I No ClinGen
gnomAD
CA402083710
CA402083709
rs1185919741
297 R>S No ClinGen
TOPMed
gnomAD
CA8919897
rs757843291
300 R>I No ClinGen
ExAC
gnomAD
CA8919899
rs746287648
304 S>P No ClinGen
ExAC
gnomAD
CA8919900
rs770309894
306 A>D No ClinGen
ExAC
gnomAD
rs1168734282
CA402083761
306 A>T No ClinGen
gnomAD
CA402083775
rs1411413924
308 L>V No ClinGen
TOPMed
gnomAD
rs1341014410
CA402083782
309 L>S No ClinGen
TOPMed
CA402083788
rs1381928913
310 G>E No ClinGen
gnomAD
CA8919901
rs775802330
310 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 310 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8919902
rs545909864
312 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201686910
CA297156223
313 A>S No ClinGen
1000Genomes
rs993563191
CA297156230
314 V>G No ClinGen
Ensembl
rs768786762
CA8919903
316 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs774636951
CA8919904
317 A>P No ClinGen
ExAC
gnomAD
rs760514429
CA8919905
318 P>A No ClinGen
ExAC
gnomAD
rs141897320
CA8919907
319 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8919910
rs139932565
327 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402083999
rs1185982064
330 S>A No ClinGen
gnomAD
CA402084057
rs116715978
334 G>A No ClinGen
1000Genomes
ExAC
TOPMed
CA8919912
rs116715978
334 G>V No ClinGen
1000Genomes
ExAC
TOPMed
rs1248799304
CA402084096
337 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8919913
rs751132957
338 V>F No ClinGen
ExAC
gnomAD
CA8919914
rs757678921
339 W>* No ClinGen
ExAC
gnomAD
rs1568100013
CA402084130
339 W>C No ClinGen
Ensembl
CA297156271
rs970330209
341 R>G No ClinGen
TOPMed
rs781692140
CA8919915
342 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA297156280
rs928808700
344 F>V No ClinGen
TOPMed
rs746380432
CA8919916
348 W>* No ClinGen
ExAC
gnomAD
TCGA novel 348 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402084248
rs1338658780
350 N>I No ClinGen
gnomAD
CA402084247
rs1338658780
350 N>S No ClinGen
gnomAD
rs756485602
CA8919917
351 S>A No ClinGen
ExAC
gnomAD
CA8919918
rs780567471
351 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs749592787
CA8919919
355 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs769056439
CA8919920
356 L>R No ClinGen
ExAC
gnomAD
rs1264598611
CA402084291
357 L>F No ClinGen
gnomAD
CA8919921
rs778835181
357 L>W No ClinGen
ExAC
gnomAD
CA8919924
rs776574126
361 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA8919925
rs759476238
362 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1205776417
CA402084330
363 K>E No ClinGen
gnomAD
rs769575154
CA8919926
364 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs149820026
CA8919927
COSM987200
364 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA402084364
rs762574759
368 A>P No ClinGen
ExAC
gnomAD
CA8919930
rs762574759
368 A>S No ClinGen
ExAC
gnomAD
rs762574759
CA8919929
368 A>T No ClinGen
ExAC
gnomAD
CA8919931
rs751206706
368 A>V No ClinGen
ExAC
gnomAD
CA8919932
rs761334607
369 F>L No ClinGen
ExAC
gnomAD
CA297156339
rs1043359718
369 F>L No ClinGen
TOPMed
rs901157949
CA297156343
372 I>M No ClinGen
TOPMed
CA8919933
rs766946164
373 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs750872671
CA8919934
374 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs750872671
CA402084404
374 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs756749323
CA8919935
375 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA297156358
rs74604924
376 K>* No ClinGen
Ensembl
CA297156362
rs77041280
376 K>I No ClinGen
Ensembl
CA402084416
rs77041280
376 K>T No ClinGen
Ensembl
TCGA novel 377 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402084421
rs1422933507
377 K>E No ClinGen
TOPMed
CA402084426
rs146404280
377 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs531238280
CA8919937
379 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA402084436
rs1302177940
379 P>S No ClinGen
TOPMed
gnomAD
rs1302177940
CA402084438
379 P>T No ClinGen
TOPMed
gnomAD
CA297156390
rs550963133
381 P>L No ClinGen
1000Genomes
gnomAD
rs1316840229
COSM182700
CA402084469
384 H>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs150959048
CA8919941
386 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8919940
rs115905515
386 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q9H3N8

1 regional properties for Q9H3N8

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 32 - 358 IPR017452

Functions

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

4 GO annotations of cellular component

Name Definition
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.
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.
histamine receptor activity Combining with histamine to initiate a change in cell activity. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans.
neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.

6 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.
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.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
positive regulation of cytosolic calcium ion concentration Any process that increases the concentration of calcium ions in the cytosol.
regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade.

126 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2YDN1 GPR161 G protein-coupled receptor 161 Bos taurus (Bovine) PR
Q0GBZ5 HCRTR1 Orexin/Hypocretin receptor type 1 Bos taurus (Bovine) PR
Q17QD8 GPR37L1 G-protein coupled receptor 37-like 1 Bos taurus (Bovine) PR
Q8SPN1 PROKR2 Prokineticin receptor 2 Bos taurus (Bovine) PR
P46626 ADRB3 Beta-3 adrenergic receptor Bos taurus (Bovine) PR
O46639 TRHR Thyrotropin-releasing hormone receptor Bos taurus (Bovine) PR
Q8SPN2 PROKR1 Prokineticin receptor 1 Bos taurus (Bovine) PR
B9VR26 CMLKR1 Chemerin-like receptor 1 Bos taurus (Bovine) PR
P18130 ADRA1A Alpha-1A adrenergic receptor Bos taurus (Bovine) PR
B4XF06 GPR39 G-protein coupled receptor 39 Bos taurus (Bovine) PR
O18913 OPN1LW Long-wave-sensitive opsin 1 Felis catus (Cat) (Felis silvestris catus) PR
P28683 PRA1 Green-sensitive opsin Gallus gallus (Chicken) PR
Q9N298 HTR1A 5-hydroxytryptamine receptor 1A Pan troglodytes (Chimpanzee) PR
P08099 Rh2 Opsin Rh2 Drosophila melanogaster (Fruit fly) PR
P06002 ninaE Opsin Rh1 Drosophila melanogaster (Fruit fly) PR
Q4LBB9 Octbeta2R Octopamine receptor beta-2R Drosophila melanogaster (Fruit fly) PR
Q8NFJ6 PROKR2 Prokineticin receptor 2 Homo sapiens (Human) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor Homo sapiens (Human) PR
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 Homo sapiens (Human) PR
P08913 ADRA2A Alpha-2A adrenergic receptor Homo sapiens (Human) PR
P41597 CCR2 C-C chemokine receptor type 2 Homo sapiens (Human) PR
P51681 CCR5 C-C chemokine receptor type 5 Homo sapiens (Human) PR
Q8TCW9 PROKR1 Prokineticin receptor 1 Homo sapiens (Human) PR
Q99788 CMKLR1 Chemerin-like receptor 1 Homo sapiens (Human) PR
P30559 OXTR Oxytocin receptor Homo sapiens (Human) PR
P32239 CCKBR Gastrin/cholecystokinin type B receptor Homo sapiens (Human) PR
O60883 GPR37L1 G-protein coupled receptor 37-like 1 Homo sapiens (Human) PR
Q8TDU9 RXFP4 Relaxin-3 receptor 2 Homo sapiens (Human) PR
P04000 OPN1LW Long-wave-sensitive opsin 1 Homo sapiens (Human) PR
Q6U736 OPN5 Opsin-5 Homo sapiens (Human) PR
P34972 CNR2 Cannabinoid receptor 2 Homo sapiens (Human) PR
P24530 EDNRB Endothelin receptor type B Homo sapiens (Human) PR
P35348 ADRA1A Alpha-1A adrenergic receptor Homo sapiens (Human) PR
Q6W5P4 NPSR1 Neuropeptide S receptor Homo sapiens (Human) PR
O43613 HCRTR1 Orexin/Hypocretin receptor type 1 Homo sapiens (Human) PR
P61073 CXCR4 C-X-C chemokine receptor type 4 Homo sapiens (Human) PR
Q9BXC0 HCAR1 Hydroxycarboxylic acid receptor 1 Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
Q15761 NPY5R Neuropeptide Y receptor type 5 Homo sapiens (Human) PR
Q8N6U8 GPR161 G-protein coupled receptor 161 Homo sapiens (Human) PR
Q6DWJ6 GPR139 Probable G-protein coupled receptor 139 Homo sapiens (Human) PR
P21462 FPR1 fMet-Leu-Phe receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P46091 CMKLR2 Chemerin-like receptor 2 Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
P41439 FOLR3 Folate receptor gamma Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
P08173 CHRM4 Muscarinic acetylcholine receptor M4 Homo sapiens (Human) PR
P11229 CHRM1 Muscarinic acetylcholine receptor M1 Homo sapiens (Human) PR
P08912 CHRM5 Muscarinic acetylcholine receptor M5 Homo sapiens (Human) PR
P08172 CHRM2 Muscarinic acetylcholine receptor M2 Homo sapiens (Human) PR
P20309 CHRM3 Muscarinic acetylcholine receptor M3 Homo sapiens (Human) PR
P35367 HRH1 Histamine H1 receptor Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A Mus musculus (Mouse) PR
P51675 Ccr1 C-C chemokine receptor type 1 Mus musculus (Mouse) PR
Q5U431 Gpr39 G-protein coupled receptor 39 Mus musculus (Mouse) PR
Q99JG2 Gpr37l1 G-protein coupled receptor 37-like 1 Mus musculus (Mouse) PR
P97295 Npy2r Neuropeptide Y receptor type 2 Mus musculus (Mouse) PR
O08786 Cckar Cholecystokinin receptor type A Mus musculus (Mouse) PR
P56481 Cckbr Gastrin/cholecystokinin type B receptor Mus musculus (Mouse) PR
P30731 Gpr83 G-protein coupled receptor 83 Mus musculus (Mouse) PR
P97468 Cmklr1 Chemerin-like receptor 1 Mus musculus (Mouse) PR
P21761 Trhr Thyrotropin-releasing hormone receptor Mus musculus (Mouse) PR
Q5QD16 Taar3 Trace amine-associated receptor 3 Mus musculus (Mouse) PR
P97292 Hrh2 Histamine H2 receptor Mus musculus (Mouse) PR
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 Mus musculus (Mouse) PR
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
O88416 Gpr33 Probable G-protein coupled receptor 33 Mus musculus (Mouse) PR
Q8K087 Cmklr2 Chemerin-like receptor 2 Mus musculus (Mouse) PR
P70658 Cxcr4 C-X-C chemokine receptor type 4 Mus musculus (Mouse) PR
Q9WV08 Aplnr Apelin receptor Mus musculus (Mouse) PR
P97718 Adra1a Alpha-1A adrenergic receptor Mus musculus (Mouse) PR
Q8BZP8 Npsr1 Neuropeptide S receptor Mus musculus (Mouse) PR
Q8K458 Prokr2 Prokineticin receptor 2 Mus musculus (Mouse) PR
P58308 Hcrtr2 Orexin receptor type 2 Mus musculus (Mouse) PR
Q7TQP3 Gpr119 Glucose-dependent insulinotropic receptor Mus musculus (Mouse) PR
Q8BGE9 Rxfp3 Relaxin-3 receptor 1 Mus musculus (Mouse) PR
Q6VZZ7 Opn5 Opsin-5 Mus musculus (Mouse) PR
Q8CIM5 Gpr84 G-protein coupled receptor 84 Mus musculus (Mouse) PR
P25962 Adrb3 Beta-3 adrenergic receptor Mus musculus (Mouse) PR
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 Mus musculus (Mouse) PR
P0C5I1 Gpr25 Probable G-protein coupled receptor 25 Mus musculus (Mouse) PR
P47936 Cnr2 Cannabinoid receptor 2 Mus musculus (Mouse) PR
Q5QD13 Taar6 Trace amine-associated receptor 6 Mus musculus (Mouse) PR
P35846 Folr1 Folate receptor alpha Mus musculus (Mouse) PR
P58307 Hcrtr1 Orexin/Hypocretin receptor type 1 Mus musculus (Mouse) PR
Q8C131 Hcar1 Hydroxycarboxylic acid receptor 1 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 Mus musculus (Mouse) PR
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 receptor Mus musculus (Mouse) PR
Q764M9 CXCR4 C-X-C chemokine receptor type 4 Sus scrofa (Pig) PR
Q9EQD2 Npffr2 Neuropeptide FF receptor 2 Rattus norvegicus (Rat) PR
O08565 Cxcr4 C-X-C chemokine receptor type 4 Rattus norvegicus (Rat) PR
Q01717 Trhr Thyrotropin-releasing hormone receptor Rattus norvegicus (Rat) PR
P30936 Sstr3 Somatostatin receptor type 3 Rattus norvegicus (Rat) PR
Q9JHG3 Aplnr Apelin receptor Rattus norvegicus (Rat) PR
P43140 Adra1a Alpha-1A adrenergic receptor Rattus norvegicus (Rat) PR
P19327 Htr1a 5-hydroxytryptamine receptor 1A Rattus norvegicus (Rat) PR
P56719 Hcrtr2 Orexin receptor type 2 Rattus norvegicus (Rat) PR
P28564 Htr1b 5-hydroxytryptamine receptor 1B Rattus norvegicus (Rat) PR
P56718 Hcrtr1 Orexin/Hypocretin receptor type 1 Rattus norvegicus (Rat) PR
P28647 Adora3 Adenosine receptor A3 Rattus norvegicus (Rat) PR
P25102 Hrh2 Histamine H2 receptor Rattus norvegicus (Rat) PR
P23944 Adra1d Alpha-1D adrenergic receptor Rattus norvegicus (Rat) PR
Q8R415 Prokr2 Prokineticin receptor 2 Rattus norvegicus (Rat) PR
Q5QD24 Taar3 Trace amine-associated receptor 3 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 Rattus norvegicus (Rat) PR
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
O97664 CMKLR2 Chemerin-like receptor 2 Macaca mulatta (Rhesus macaque) PR
O97666 APLNR Apelin receptor Macaca mulatta (Rhesus macaque) PR
Q56H79 NPSR1 Neuropeptide S receptor Macaca mulatta (Rhesus macaque) PR
Q18904 npr-8 Probable G-protein coupled receptor npr-8 Caenorhabditis elegans PR
Q09388 gar-2 Muscarinic acetylcholine receptor gar-2 Caenorhabditis elegans PR
Q9U7D5 gar-3 Muscarinic acetylcholine receptor gar-3 Caenorhabditis elegans PR
B3DM66 gpr161 G-protein coupled receptor 161 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q9W6A6 opn1mw4 Green-sensitive opsin-4 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9W6A5 opn1mw1 Green-sensitive opsin-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYM7 opn1mw3 Green-sensitive opsin-3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYN0 opn1lw2 Red-sensitive opsin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q90X46 gpr161 G-protein coupled receptor 161 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MPDTNSTINL SLSTRVTLAF FMSLVAFAIM LGNALVILAF VVDKNLRHRS SYFFLNLAIS
70 80 90 100 110 120
DFFVGVISIP LYIPHTLFEW DFGKEICVFW LTTDYLLCTA SVYNIVLISY DRYLSVSNAV
130 140 150 160 170 180
SYRTQHTGVL KIVTLMVAVW VLAFLVNGPM ILVSESWKDE GSECEPGFFS EWYILAITSF
190 200 210 220 230 240
LEFVIPVILV AYFNMNIYWS LWKRDHLSRC QSHPGLTAVS SNICGHSFRG RLSSRRSLSA
250 260 270 280 290 300
STEVPASFHS ERQRRKSSLM FSSRTKMNSN TIASKMGSFS QSDSVALHQR EHVELLRARR
310 320 330 340 350 360
LAKSLAILLG VFAVCWAPYS LFTIVLSFYS SATGPKSVWY RIAFWLQWFN SFVNPLLYPL
370 380
CHKRFQKAFL KIFCIKKQPL PSQHSRSVSS