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 Q9BZJ6

Entry ID Method Resolution Chain Position Source
AF-Q9BZJ6-F1 Predicted AlphaFoldDB

334 variants for Q9BZJ6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA3931349
rs757535296
4 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs187256131
CA3931347
6 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA365283754
rs1168525347
6 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1355666165
CA365283748
7 L>S No ClinGen
gnomAD
rs541468268
CA365283735
9 A>E No ClinGen
1000Genomes
TOPMed
CA144192963
rs541468268
9 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
CA365283727
rs1433345021
10 F>L No ClinGen
gnomAD
rs983310778
CA144192962
11 H>R No ClinGen
TOPMed
rs1236473337
CA365283713
12 T>I No ClinGen
TOPMed
rs759085242
CA3931343
CA144192961
13 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs762704908
CA3931340
17 T>A No ClinGen
ExAC
gnomAD
rs772812085
CA3931339
18 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3931336
rs35358396
VAR_049396
21 V>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1313655712
CA365283642
24 N>D No ClinGen
TOPMed
gnomAD
CA144192960
rs977345624
25 T>N No ClinGen
Ensembl
rs745937057
CA3931333
26 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1360195514
CA365283620
27 M>I No ClinGen
TOPMed
gnomAD
rs778979692
CA365283623
27 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA3931330
rs749557151
27 M>R No ClinGen
ExAC
gnomAD
CA3931331
rs749557151
27 M>T No ClinGen
ExAC
gnomAD
rs778979692
CA3931332
27 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs777951458
CA3931329
29 I>V No ClinGen
ExAC
gnomAD
CA365283602
rs1313946115
30 T>A No ClinGen
gnomAD
CA144192958
rs967033925
30 T>I No ClinGen
TOPMed
gnomAD
rs1158686635
CA365283596
31 L>F No ClinGen
TOPMed
gnomAD
rs1410261663
CA365283591
32 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs753043143
CA3931327
35 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1256713938
CA365283549
38 P>S No ClinGen
gnomAD
CA3931326
rs768133094
39 D>E No ClinGen
ExAC
gnomAD
CA365283514
rs1335976935
43 L>* No ClinGen
TOPMed
rs959059003
CA144192957
47 S>G No ClinGen
TOPMed
TCGA novel 51 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365283461
rs1214668880
51 M>V No ClinGen
gnomAD
rs1317064673
CA365283444
53 P>S No ClinGen
gnomAD
rs1021708743
CA144192956
54 T>S No ClinGen
Ensembl
CA365283409
rs1291836304
58 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA3931322
rs765988637
62 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA365283389
rs765988637
62 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA365283388
rs765988637
62 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs750107923
CA3931320
63 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA144192955
rs1000914741
63 S>I No ClinGen
TOPMed
rs750107923
CA3931321
63 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA144192954
rs201021604
65 A>P No ClinGen
Ensembl
rs967832635
CA144192952
67 P>L No ClinGen
TOPMed
rs764841521
CA3931319
67 P>S No ClinGen
ExAC
gnomAD
CA365283348
rs1360353087
69 T>P No ClinGen
gnomAD
rs761667953
CA3931317
70 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA144192950
rs57240111
71 A>S No ClinGen
Ensembl
CA365283333
rs776471234
72 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs776471234
CA3931316
72 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs776471234
CA365283334
72 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3931315
rs768525653
72 A>V No ClinGen
ExAC
gnomAD
TCGA novel 73 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760612816
CA3931314
74 K>E No ClinGen
ExAC
gnomAD
rs774376121
CA3931313
74 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 80 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3931312
rs771021988
80 L>R No ClinGen
ExAC
gnomAD
CA365283271
rs1259399805
81 Q>H No ClinGen
TOPMed
gnomAD
rs767330422
CA144192949
82 I>V No ClinGen
Ensembl
rs1486021445
CA365283262
83 T>A No ClinGen
gnomAD
rs1165459956
CA365283255
84 L>F No ClinGen
TOPMed
CA3931310
rs749377772
85 S>C No ClinGen
ExAC
gnomAD
rs1211336148
CA365283235
87 I>T No ClinGen
gnomAD
CA3931309
rs778024067
88 M>I No ClinGen
ExAC
gnomAD
rs1247634786
CA365283212
90 F>L No ClinGen
gnomAD
CA3931308
rs148256804
90 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1323046555
CA365283203
92 L>M No ClinGen
TOPMed
rs1323046555
CA365283202
92 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA3931306
rs748531723
93 F>C No ClinGen
ExAC
gnomAD
rs1383123682
CA365283193
93 F>L No ClinGen
gnomAD
CA365283190
rs1367671163
94 V>L No ClinGen
gnomAD
CA3931305
rs781697888
96 F>V No ClinGen
ExAC
gnomAD
CA365283170
rs1413811943
97 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs755467875
CA3931304
97 L>R No ClinGen
ExAC
gnomAD
CA365283165
rs1395351029
98 G>W No ClinGen
gnomAD
rs1310654535
CA365283161
99 N>D No ClinGen
TOPMed
CA365283148
CA3931302
rs374442152
100 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs749971919
CA3931300
101 V>I No ClinGen
ExAC
gnomAD
CA3931299
rs764931945
102 V>F No ClinGen
ExAC
gnomAD
CA365283105
rs1582244112
107 Y>S No ClinGen
Ensembl
rs576786481
CA3931298
108 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA365283087
rs1562112806
109 K>N No ClinGen
Ensembl
rs1191398531
CA365283085
110 A>P No ClinGen
gnomAD
TCGA novel 110 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365283080
rs1467701758
110 A>V No ClinGen
gnomAD
rs200909679
CA144192948
111 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1211094850
CA365283068
112 M>I No ClinGen
gnomAD
rs1479983062
CA365283065
113 R>G No ClinGen
gnomAD
CA365283052
rs1367470091
115 A>T No ClinGen
gnomAD
CA3931297
rs753564652
116 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA3931296
rs763909785
118 I>T No ClinGen
ExAC
gnomAD
rs761774201
CA3931295
119 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1420610907
CA365282962
128 M>I No ClinGen
gnomAD
rs1485365153
CA365282965
128 M>T No ClinGen
TOPMed
CA365282953
rs763084317
129 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA3931291
rs773220421
133 L>P No ClinGen
ExAC
gnomAD
rs1486563866
CA365282927
134 N>T No ClinGen
TOPMed
CA365282922
rs1389735998
135 M>V No ClinGen
TOPMed
gnomAD
CA3931289
rs748320161
138 A>P No ClinGen
ExAC
gnomAD
CA3931288
rs781653344
138 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA144192945
rs997084717
139 L>M No ClinGen
TOPMed
gnomAD
CA3931286
rs747423465
139 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA365282890
rs1433526187
140 V>L No ClinGen
TOPMed
CA3931285
rs780706192
141 T>A No ClinGen
ExAC
gnomAD
rs867480024
CA144192944
141 T>I No ClinGen
Ensembl
CA3931284
rs758890129
144 T>I No ClinGen
ExAC
gnomAD
rs758890129
CA365282866
144 T>S No ClinGen
ExAC
gnomAD
CA365282859
rs1416767277
145 T>I No ClinGen
TOPMed
gnomAD
CA365282860
rs1416767277
145 T>S No ClinGen
TOPMed
gnomAD
CA3931283
rs371511856
146 R>* No ClinGen
ESP
ExAC
gnomAD
CA3931282
rs368281435
146 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3931281
rs756895707
148 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs756895707
CA365282843
148 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 149 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 150 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365282813
rs1278647147
152 F>C No ClinGen
gnomAD
CA365282806
rs1360236414
153 F>S No ClinGen
TOPMed
rs895198416
CA144192943
154 C>Y No ClinGen
Ensembl
CA3931278
rs753513043
155 R>G No ClinGen
ExAC
gnomAD
rs374800190
CA3931277
156 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs574440768
CA3931275
158 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA365282767
rs1352242716
159 M>I No ClinGen
gnomAD
rs375708997
CA3931273
159 M>T No ClinGen
ESP
ExAC
gnomAD
CA3931274
rs767476894
159 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 161 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765261007
CA3931271
162 W>C No ClinGen
ExAC
gnomAD
rs1232165390
CA365282728
164 F>L No ClinGen
TOPMed
rs941321896
CA144192942
165 V>A No ClinGen
TOPMed
CA144192941
rs376866452
170 A>G No ClinGen
ExAC
gnomAD
rs376866452
CA3931269
170 A>V No ClinGen
ExAC
gnomAD
CA365282690
rs1451124364
171 I>V No ClinGen
gnomAD
rs772567550
CA3931265
174 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1256015828
CA365282659
176 S>G No ClinGen
gnomAD
rs189889136
CA3931264
177 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs189889136
CA3931263
177 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA365282639
rs1241487311
179 R>G No ClinGen
TOPMed
gnomAD
CA365282635
rs1281124437
179 R>M No ClinGen
gnomAD
CA3931262
rs756700555
179 R>S No ClinGen
ExAC
gnomAD
rs142129259
CA3931261
182 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA144192939
rs928458094
183 I>V No ClinGen
gnomAD
CA365282604
rs1291339176
184 V>A No ClinGen
gnomAD
rs777397583
CA3931260
184 V>F No ClinGen
ExAC
gnomAD
CA144192938
rs112040975
186 R>G No ClinGen
Ensembl
rs755822085
CA3931259
186 R>K No ClinGen
ExAC
gnomAD
rs1582243442
CA365282575
188 D>E No ClinGen
Ensembl
CA3931258
rs752429230
188 D>G No ClinGen
ExAC
gnomAD
rs1335861119
CA365282579
188 D>Y No ClinGen
gnomAD
CA365282571
rs1327464099
189 K>R No ClinGen
gnomAD
CA3931257
rs767219900
191 N>K No ClinGen
ExAC
TOPMed
CA365282542
rs1157869371
193 Y>* No ClinGen
TOPMed
rs118106616
CA3931256
193 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1159341796
CA365282541
194 R>G No ClinGen
gnomAD
rs751472481
CA3931255
194 R>K No ClinGen
ExAC
gnomAD
rs1458326145
CA365282530
195 A>V No ClinGen
gnomAD
CA365282525
rs1343845853
196 K>R No ClinGen
TOPMed
CA365282517
rs1582243329
197 V>G No ClinGen
Ensembl
CA3931254
rs766385430
197 V>I No ClinGen
ExAC
gnomAD
rs914516047
CA144192937
198 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1164877076
CA365282506
199 I>M No ClinGen
gnomAD
CA365282509
rs1455656054
199 I>T No ClinGen
TOPMed
CA365282505
rs1321878798
200 A>T No ClinGen
TOPMed
rs1239597191
CA365282484
203 W>* No ClinGen
gnomAD
rs776911896
CA3931252
203 W>C No ClinGen
ExAC
gnomAD
rs867259933
CA144192936
205 T>A No ClinGen
gnomAD
rs760984519
CA3931250
205 T>I No ClinGen
ExAC
gnomAD
CA365282471
rs760984519
205 T>N No ClinGen
ExAC
gnomAD
CA365282451
rs1272584030
208 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1285791840
CA365282415
213 L>F No ClinGen
gnomAD
TCGA novel 214 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1582243166
CA365282399
215 V>I No ClinGen
Ensembl
rs746295476
CA3931247
217 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1436783256
CA365282362
217 N>K No ClinGen
gnomAD
CA365282367
rs1320781242
217 N>T No ClinGen
gnomAD
CA365282343
rs185129489
219 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3931245
rs185129489
219 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs185129489
CA365282342
219 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA144192934
rs748781861
220 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs748781861
CA3931244
220 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA365282302
rs1268763708
221 Q>H No ClinGen
TOPMed
rs777278513
CA3931243
222 I>T No ClinGen
ExAC
gnomAD
rs747828560
CA3931241
223 P>A No ClinGen
ExAC
gnomAD
rs747828560
CA3931242
223 P>T No ClinGen
ExAC
gnomAD
rs146501968
CA144192933
225 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
CA3931240
rs762743974
225 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201788728
CA3931239
226 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751406734
CA3931238
226 A>V No ClinGen
ExAC
gnomAD
CA3931236
rs758427363
228 Q>R No ClinGen
ExAC
gnomAD
CA144192932
rs959336636
229 C>R No ClinGen
TOPMed
CA3931235
rs753904599
230 V>M No ClinGen
ExAC
gnomAD
CA3931233
rs760932571
232 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA3931234
rs373195543
232 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866908729
CA144192931
234 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs372860982
CA3931231
235 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149146627
CA3931230
235 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372860982
CA144192930
235 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 236 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 238 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774836016
CA3931229
239 Y>C No ClinGen
ExAC
gnomAD
rs1582242926
CA365282071
239 Y>H No ClinGen
Ensembl
TCGA novel 240 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1368324782
CA365282017
242 Y>F No ClinGen
TOPMed
gnomAD
rs1015038573
CA144192929
242 Y>N No ClinGen
Ensembl
rs1436535068
CA365281994
244 I>V No ClinGen
gnomAD
rs771369426
CA3931228
245 L>S No ClinGen
ExAC
gnomAD
TCGA novel 247 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365281935
rs1327463506
248 L>F No ClinGen
gnomAD
CA3931226
rs772668167
249 I>L No ClinGen
ExAC
rs747740294
CA3931225
253 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs747740294
CA3931224
253 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs145183978
CA3931223
254 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1191883471
CA365281800
257 V>I No ClinGen
gnomAD
rs199820711
CA3931221
259 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA144192927
rs372898809
260 Y>H No ClinGen
ESP
TOPMed
gnomAD
CA3931220
rs780004556
261 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs758373688
CA3931219
263 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs868481930
CA144192926
264 G>D No ClinGen
TOPMed
gnomAD
TCGA novel 265 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750411716
CA3931218
265 I>V No ClinGen
ExAC
gnomAD
CA3931217
rs779044517
270 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA365281596
rs1182393045
271 H>Q No ClinGen
TOPMed
rs750539040
CA3931216
271 H>R No ClinGen
ExAC
gnomAD
rs1474412466
CA365281552
275 R>T No ClinGen
TOPMed
rs1029856038
CA144192925
277 H>R No ClinGen
TOPMed
rs767622493
CA3931214
278 S>R No ClinGen
ExAC
gnomAD
TCGA novel 279 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200721763
CA3931213
280 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA144192924
rs200487694
281 E>G No ClinGen
1000Genomes
CA365281429
rs1310309732
283 I>V No ClinGen
gnomAD
rs751802234
CA3931212
286 S>C No ClinGen
ExAC
gnomAD
rs996991476
CA144192923
290 K>E No ClinGen
TOPMed
CA3931211
rs368675077
290 K>R No ClinGen
ESP
ExAC
gnomAD
rs368675077
CA3931210
290 K>T No ClinGen
ESP
ExAC
gnomAD
rs773683567
CA3931209
292 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA3931208
rs770323007
293 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA365281247
rs1405905228
295 S>G No ClinGen
TOPMed
gnomAD
rs761222704
CA3931207
296 L>V No ClinGen
ExAC
gnomAD
TCGA novel 298 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365281185
rs1472264614
299 P>H No ClinGen
gnomAD
rs776222221
CA3931206
302 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA3931205
rs746710512
304 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs746710512
CA3931204
304 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1484581520
CA365281115
305 D>Y No ClinGen
gnomAD
rs1356970696
CA365281101
306 M>I No ClinGen
TOPMed
CA365281107
rs1305700425
306 M>L No ClinGen
Ensembl
rs779949660
CA3931202
311 R>C No ClinGen
ExAC
gnomAD
CA3931201
rs560918889
311 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
CA365281043
rs779949660
311 R>S No ClinGen
ExAC
gnomAD
TCGA novel 312 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3931200
rs745699040
315 T>A No ClinGen
ExAC
gnomAD
rs778991504
CA3931199
316 I>V No ClinGen
ExAC
gnomAD
rs1227241089
CA365280918
319 L>F No ClinGen
gnomAD
rs757278569
CA365280882
321 A>G No ClinGen
ExAC
gnomAD
rs757278569
CA3931198
321 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1562111798
CA365280875
322 V>L No ClinGen
Ensembl
rs888008703
CA144192919
324 I>S No ClinGen
TOPMed
rs888008703
CA365280839
324 I>T No ClinGen
TOPMed
rs748117772
CA3931197
324 I>V No ClinGen
ExAC
gnomAD
rs751801260
CA3931195
325 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA3931194
rs751801260
325 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1343629957
CA365280788
327 W>L No ClinGen
TOPMed
CA3931193
rs766633863
328 A>T No ClinGen
ExAC
rs201473007
CA3931190
331 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs779104664
CA3931189
333 Y>* No ClinGen
ExAC
gnomAD
CA144192918
rs112598177
333 Y>C No ClinGen
Ensembl
CA365280684
rs1414214299
335 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3931188
rs765716632
337 A>S No ClinGen
ExAC
gnomAD
rs1474148049
CA365280670
337 A>V No ClinGen
gnomAD
rs887098332
CA144192917
339 F>Y No ClinGen
TOPMed
CA3931187
rs762389187
342 H>Y No ClinGen
ExAC
gnomAD
rs1182217552
CA365280609
346 Q>E No ClinGen
gnomAD
rs775967111
CA365280593
348 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA3931184
rs760156294
348 N>K No ClinGen
ExAC
gnomAD
rs763686478
CA3931185
348 N>S No ClinGen
ExAC
gnomAD
rs775967111
CA3931186
348 N>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 350 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562111665
CA365280544
354 T>I No ClinGen
Ensembl
CA365280535
rs1269432599
355 W>C No ClinGen
gnomAD
CA144192915
rs1003628760
356 L>V No ClinGen
Ensembl
CA144192914
rs376641353
357 L>M No ClinGen
ESP
ExAC
TOPMed
CA365280520
rs1233182445
358 W>C No ClinGen
gnomAD
CA365280516
rs1230359820
359 L>V No ClinGen
gnomAD
CA3931179
rs770705593
361 Y>H No ClinGen
ExAC
gnomAD
CA144192912
rs527767427
363 K>R No ClinGen
1000Genomes
TOPMed
CA3931177
rs781083079
365 A>S No ClinGen
ExAC
gnomAD
rs1329975764
CA365280456
368 P>A No ClinGen
gnomAD
CA3931174
rs780246056
368 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA365280453
rs780246056
368 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1417061282
CA365280445
370 I>F No ClinGen
gnomAD
rs754351928
CA3931169
371 Y>C No ClinGen
ExAC
gnomAD
rs1488465834
CA365280423
373 W>G No ClinGen
TOPMed
gnomAD
rs1488465834
CA365280425
373 W>R No ClinGen
TOPMed
gnomAD
rs760228917
CA3931167
374 R>G No ClinGen
ExAC
gnomAD
rs146864588
CA3931166
375 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA365280401
rs1297241182
376 K>R No ClinGen
gnomAD
TCGA novel 377 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs545579174
CA3931163
379 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1386251088
CA365280355
382 C>S No ClinGen
gnomAD
CA144192911
rs563079012
384 D>G No ClinGen
1000Genomes
gnomAD
CA3931160
rs773165756
385 M>T No ClinGen
ExAC
gnomAD
CA3931161
rs749085483
385 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs769682220
CA3931159
386 M>T No ClinGen
ExAC
gnomAD
rs747074637
CA3931158
387 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA365280301
rs1430086482
390 F>S No ClinGen
gnomAD
CA3931157
rs780118277
393 L>S No ClinGen
ExAC
gnomAD
rs746114183
CA3931155
394 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA3931156
rs370058383
394 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365280271
rs1193431397
395 Q>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778330738
CA3931151
398 G>S No ClinGen
ExAC
gnomAD
rs756704291
CA3931150
400 T>A No ClinGen
ExAC
CA365280236
rs1446741608
400 T>R No ClinGen
TOPMed
CA3931149
rs752190279
401 K>N No ClinGen
ExAC
gnomAD
CA144192910
rs955123836
402 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs767165854
CA3931148
402 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751202136
CA3931146
403 R>Q Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759213410
CA3931147
403 R>W No ClinGen
ExAC
gnomAD
rs1029386534
CA365280201
404 I>M No ClinGen
TOPMed
gnomAD
rs1582241738
CA365280205
404 I>T No ClinGen
Ensembl
CA3931145
rs200612973
405 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762800138
CA3931144
405 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA365280152
rs1436841912
408 A>V No ClinGen
TOPMed
rs907654342
CA144192907
409 V>D No ClinGen
Ensembl
CA3931142
rs769711874
410 Y>C No ClinGen
ExAC
gnomAD
rs1430146773
CA365280136
410 Y>D No ClinGen
gnomAD
rs574403976
CA3931141
411 V>M No ClinGen
1000Genomes
ExAC
TOPMed
rs1017217987
CA365280105
413 G>A No ClinGen
TOPMed
gnomAD
rs1017217987
CA144192906
413 G>E No ClinGen
TOPMed
gnomAD
CA3931139
rs142431486
414 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3931137
rs779192221
415 H>Y No ClinGen
ExAC
gnomAD
rs1183415128
CA365280087
416 R>Q No ClinGen
gnomAD
CA365280088
rs1251685274
416 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3931136
rs372591163
417 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372859048
CA3931134
418 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3931133
rs756647115
419 V>E No ClinGen
ExAC
CA365280062
rs1340766517
420 V>W No ClinGen
TOPMed
gnomAD

No associated diseases with Q9BZJ6

2 regional properties for Q9BZJ6

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 50 - 306 IPR017452
binding_site Visual pigments (opsins) retinal binding site 290 - 306 IPR027430

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

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

1 GO annotations of molecular function

Name Definition
G protein-coupled receptor activity Combining with an extracellular signal 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.

1 GO annotations of biological process

Name Definition
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.

119 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
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor 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
P08908 HTR1A 5-hydroxytryptamine receptor 1A 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
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 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
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 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
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 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
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
MVFSAVLTAF HTGTSNTTFV VYENTYMNIT LPPPFQHPDL SPLLRYSFET MAPTGLSSLT
70 80 90 100 110 120
VNSTAVPTTP AAFKSLNLPL QITLSAIMIF ILFVSFLGNL VVCLMVYQKA AMRSAINILL
130 140 150 160 170 180
ASLAFADMLL AVLNMPFALV TILTTRWIFG KFFCRVSAMF FWLFVIEGVA ILLIISIDRF
190 200 210 220 230 240
LIIVQRQDKL NPYRAKVLIA VSWATSFCVA FPLAVGNPDL QIPSRAPQCV FGYTTNPGYQ
250 260 270 280 290 300
AYVILISLIS FFIPFLVILY SFMGILNTLR HNALRIHSYP EGICLSQASK LGLMSLQRPF
310 320 330 340 350 360
QMSIDMGFKT RAFTTILILF AVFIVCWAPF TTYSLVATFS KHFYYQHNFF EISTWLLWLC
370 380 390 400 410
YLKSALNPLI YYWRIKKFHD ACLDMMPKSF KFLPQLPGHT KRRIRPSAVY VCGEHRTVV