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

10 structures for P34972

Entry ID Method Resolution Chain Position Source
2KI9 NMR - A 240-272 PDB
5ZTY X-ray 280 A PDB
6KPC X-ray 320 A PDB
6KPF EM 290 A R 1-360 PDB
6PT0 EM 320 A R 1-360 PDB
8GUQ EM 308 A R 1-360 PDB
8GUR EM 284 A R 1-360 PDB
8GUS EM 297 A R 1-360 PDB
8GUT EM 298 A R 21-360 PDB
AF-P34972-F1 Predicted AlphaFoldDB

306 variants for P34972

Variant ID(s) Position Change Description Diseaes Association Provenance
CA686887
rs773689614
4 C>Y No ClinGen
ExAC
gnomAD
CA686886
rs202092094
5 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1356820488
CA339021668
9 I>L No ClinGen
gnomAD
CA686882
rs746669490
9 I>M No ClinGen
ExAC
gnomAD
CA686883
rs370749734
9 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339021678
rs1356820488
9 I>V No ClinGen
gnomAD
CA686881
rs775178577
11 N>S No ClinGen
ExAC
gnomAD
rs201016971
CA19289698
13 S>C No ClinGen
gnomAD
rs201016971
CA339020807
13 S>F No ClinGen
gnomAD
rs1368227584
CA339020806
14 K>Q No ClinGen
TOPMed
CA19289687
rs199931185
15 D>G No ClinGen
Ensembl
COSM106383
rs142134658
CA19289688
15 D>N skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA686880
rs142134658
15 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 16 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745320779
CA686879
16 G>V No ClinGen
ExAC
gnomAD
rs757147880
CA686877
18 D>V No ClinGen
ExAC
gnomAD
rs1454280416
CA339020779
18 D>Y No ClinGen
TOPMed
CA19289652
rs900368894
20 N>D No ClinGen
gnomAD
CA686876
rs749046000
20 N>S No ClinGen
ExAC
gnomAD
rs900368894
CA339020767
20 N>Y No ClinGen
gnomAD
CA339020762
rs1382764385
21 P>T No ClinGen
gnomAD
CA686873
rs751752206
22 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs755226163
CA686875
22 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA686874
rs755226163
22 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1233783871
CA339020750
23 K>E No ClinGen
TOPMed
rs1223341048
CA339020726
26 M>L No ClinGen
gnomAD
TCGA novel 29 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200121304
CA19289603
29 S>R No ClinGen
Ensembl
CA686870
rs750464246
29 S>R No ClinGen
ExAC
gnomAD
CA686869
rs201821646
30 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA19289593
rs201821646
30 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1239252701
CA339020694
31 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1570699202
CA339020690
31 P>L No ClinGen
Ensembl
CA339020689
rs1288437535
32 Q>* No ClinGen
gnomAD
rs1217622625
CA339020664
35 A>D No ClinGen
TOPMed
gnomAD
CA339020666
rs1274481529
35 A>P No ClinGen
TOPMed
rs1350075547
CA339020661
36 V>I No ClinGen
TOPMed
CA339020655
rs1353512578
37 A>T No ClinGen
gnomAD
rs1307502753
CA339020645
38 V>A No ClinGen
gnomAD
rs754221879
CA686867
40 C>Y No ClinGen
ExAC
gnomAD
rs950189696
CA19289586
41 T>I No ClinGen
TOPMed
TCGA novel 43 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200666402
CA19289583
44 G>R No ClinGen
gnomAD
CA339020613
rs200666402
44 G>S No ClinGen
gnomAD
rs1302769261
CA339020594
47 S>N No ClinGen
gnomAD
CA686866
rs764487664
47 S>R No ClinGen
ExAC
gnomAD
TCGA novel 49 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 50 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339020563
rs775303358
52 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA686864
rs775303358
52 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA339020552
rs1332210341
53 A>S No ClinGen
gnomAD
rs1279905726
CA339020544
54 V>M No ClinGen
TOPMed
rs111832243
CA19289543
55 L>P No ClinGen
Ensembl
rs1444034929
CA339020510
56 Y>C No ClinGen
TOPMed
TCGA novel 57 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339020464
rs1307295654
59 L>V No ClinGen
TOPMed
CA686861
rs773937494
60 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs770828039
CA686860
61 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA339020443
rs1301116696
61 S>P No ClinGen
TOPMed
gnomAD
rs749247846
CA686859
62 H>R No ClinGen
ExAC
gnomAD
CA686858
rs769611593
63 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA19289529
rs769611593
63 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA686857
rs769611593
63 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA339020403
rs2501432
63 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_054310
CA686856
rs2501432
63 Q>R high incidence in Japanese depressed subjects [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs35761398
CA19289506
63 Q>R No ClinGen
Ensembl
rs528804725
CA686854
65 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA686853
rs200619419
65 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV000967909
CA686850
rs61996280
66 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM3804575
COSM3804576
rs757744382
CA686851
66 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761149846
CA686848
68 P>H No ClinGen
ExAC
rs141481878
CA686846
70 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339020230
rs1427907785
73 I>T No ClinGen
gnomAD
rs1414556125
CA339020237
73 I>V No ClinGen
TOPMed
gnomAD
CA686844
rs773803426
74 G>C No ClinGen
ExAC
gnomAD
rs1263418042
CA339020160
77 A>V No ClinGen
gnomAD
rs1484764426
CA339020150
79 A>T No ClinGen
gnomAD
rs200099315
CA339020097
82 L>P No ClinGen
gnomAD
rs200099315
CA19289455
82 L>Q No ClinGen
gnomAD
rs756316007
CA339020093
83 A>P No ClinGen
Ensembl
rs756316007
CA19289450
83 A>S No ClinGen
Ensembl
rs201650984
CA686842
84 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA19289449
rs1008131094
84 S>I No ClinGen
TOPMed
CA19289433
rs955203366
87 F>I No ClinGen
TOPMed
TCGA novel 87 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA19289428
rs200068439
89 C>* No ClinGen
Ensembl
CA686840
rs773226744
89 C>R No ClinGen
ExAC
gnomAD
rs769681479
CA686839
89 C>Y No ClinGen
ExAC
gnomAD
rs543855954
CA686838
90 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs772338354
CA339019924
92 V>L No ClinGen
ExAC
gnomAD
CA686836
rs772338354
92 V>M No ClinGen
ExAC
gnomAD
CA339019865
rs1488942624
94 F>L No ClinGen
Ensembl
rs746058590
CA686835
95 H>R No ClinGen
ExAC
gnomAD
CA19289420
rs866049734
95 H>Y No ClinGen
Ensembl
rs1449343871
CA339019765
97 F>S No ClinGen
gnomAD
rs1334169209
CA339019741
98 H>R No ClinGen
gnomAD
CA686831
rs778345235
101 D>A No ClinGen
ExAC
gnomAD
CA339019685
rs778345235
101 D>V No ClinGen
ExAC
gnomAD
rs1009950229
CA19289399
102 S>F No ClinGen
Ensembl
rs767985981
CA686828
110 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs139756160
CA686829
110 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754722865
CA686827
111 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA339019527
rs1244080724
112 S>R No ClinGen
TOPMed
rs527797875
CA686825
113 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs762556883
CA686824
114 T>P No ClinGen
ExAC
gnomAD
CA339019441
rs1570698822
116 T>P No ClinGen
Ensembl
TCGA novel 117 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772531845
CA686823
117 F>S No ClinGen
ExAC
gnomAD
CA339019384
rs1315215453
118 T>A No ClinGen
gnomAD
rs1315215453
CA339019382
118 T>P No ClinGen
gnomAD
rs765174269
CA686822
119 A>D No ClinGen
ExAC
gnomAD
CA339019269
rs1233888905
122 G>D No ClinGen
TOPMed
CA686816
rs774664120
128 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs774664120
CA19289310
128 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA19289295
rs1006481868
129 I>M No ClinGen
TOPMed
gnomAD
CA686815
rs770989594
129 I>N No ClinGen
ExAC
gnomAD
CA19289306
rs201688371
129 I>V No ClinGen
Ensembl
rs150233022
CA686814
131 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199691655
CA686813
131 R>Q No ClinGen
ESP
ExAC
gnomAD
CA686812
rs199785089
132 Y>* No ClinGen
ExAC
gnomAD
CA686811
rs41311993
133 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs930052487
CA19289265
134 C>R No ClinGen
Ensembl
rs781726068
CA686810
134 C>Y No ClinGen
ExAC
TOPMed
gnomAD
COSM906509
COSM906510
CA686808
rs141989735
136 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM533640
COSM533639
rs199631465
CA686807
136 R>H lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757932522
CA686806
137 Y>C No ClinGen
ExAC
gnomAD
rs750007574
CA686805
139 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA339018924
rs1316722407
140 S>Y No ClinGen
Ensembl
CA686803
rs201510809
142 K>R No ClinGen
ExAC
gnomAD
CA339018863
rs1170811802
143 A>S No ClinGen
gnomAD
rs200635692
CA19289214
143 A>V No ClinGen
Ensembl
rs776572645
CA686802
144 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA339018845
rs1303369295
145 L>F No ClinGen
gnomAD
rs1423785471
CA339018821
146 T>I No ClinGen
TOPMed
gnomAD
CA339018815
rs1557521491
147 R>C No ClinGen
Ensembl
CA686801
rs542890327
147 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA686800
rs760521443
148 G>R No ClinGen
ExAC
gnomAD
rs1363136054
CA339018747
152 V>M No ClinGen
gnomAD
CA686796
rs145306214
154 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769975822
CA686795
155 G>S No ClinGen
ExAC
gnomAD
rs80131168
CA19289154
157 M>R No ClinGen
Ensembl
rs781772998
CA339018622
158 W>* No ClinGen
ExAC
gnomAD
rs781772998
CA686793
158 W>C No ClinGen
ExAC
gnomAD
rs1352082292
CA339018605
159 V>A No ClinGen
gnomAD
rs201087852
CA686792
159 V>F No ClinGen
ExAC
gnomAD
TCGA novel 160 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1240581048
CA339018562
162 A>T No ClinGen
gnomAD
rs1307638165
CA339018543
163 L>I No ClinGen
TOPMed
rs780269365
CA686790
164 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 167 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 169 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557521430
CA339018378
171 G>E No ClinGen
Ensembl
rs1299861030
CA339018346
173 T>A No ClinGen
gnomAD
rs776070030
CA686785
174 C>Y No ClinGen
ExAC
gnomAD
CA339018251
rs1451726101
178 P>L No ClinGen
TOPMed
gnomAD
rs372203029
CA339018259
178 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372203029
COSM1284189
COSM1284188
CA686783
178 P>T Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339018158
rs1177444347
184 P>S No ClinGen
gnomAD
rs1320657768
CA339018138
185 L>V No ClinGen
gnomAD
rs767181446
CA686781
186 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA339018090
rs1196382257
188 N>S No ClinGen
gnomAD
CA686780
rs763288928
190 Y>C No ClinGen
ExAC
gnomAD
rs1259208364
CA339018026
192 L>Q No ClinGen
TOPMed
gnomAD
CA686777
rs761992110
194 W>* No ClinGen
ExAC
gnomAD
rs375951786
CA19289043
196 L>P No ClinGen
Ensembl
rs201054712
CA19289018
198 I>V No ClinGen
1000Genomes
gnomAD
CA686774
rs747466044
199 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs142861964
CA19289013
199 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142861964
COSM906506
CA686775
COSM906505
199 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA19289011
rs747466044
199 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1557521335
CA339017875
201 L>F No ClinGen
Ensembl
rs1209223384
CA339017843
202 F>L No ClinGen
TOPMed
rs772344819
CA686772
203 S>C No ClinGen
ExAC
gnomAD
rs201354527
CA686770
204 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA339017788
rs1427539256
206 I>T No ClinGen
gnomAD
rs1169817581
CA339017752
208 T>I No ClinGen
TOPMed
gnomAD
rs1169817581
CA339017756
208 T>N No ClinGen
TOPMed
gnomAD
rs756844127
CA686769
210 G>R No ClinGen
ExAC
gnomAD
CA686768
rs753400744
211 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA686767
rs777141896
211 H>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1687209
rs1244259465
COSM1687210
CA339017681
213 L>F skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA339017670
rs1202560631
214 W>R No ClinGen
gnomAD
CA339017651
rs1557521293
215 K>E No ClinGen
Ensembl
rs752550897
CA686765
216 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1330513364
CA339017599
217 H>R No ClinGen
gnomAD
rs1338529393
CA339017584
218 Q>* No ClinGen
gnomAD
rs751335953
CA686762
218 Q>H No ClinGen
ExAC
gnomAD
CA686763
rs759285584
218 Q>R No ClinGen
ExAC
gnomAD
CA19288956
rs764328610
221 A>T No ClinGen
Ensembl
CA19288946
rs201178693
223 L>F No ClinGen
TOPMed
CA686758
rs764050301
228 D>G No ClinGen
ExAC
gnomAD
CA686759
rs200162708
228 D>N No ClinGen
ExAC
gnomAD
CA686756
rs201612710
229 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs200979413
CA19288889
231 V>A No ClinGen
ExAC
gnomAD
CA686754
rs200979413
231 V>G No ClinGen
ExAC
gnomAD
CA339017278
rs1166557653
231 V>M No ClinGen
gnomAD
rs770633754
CA686752
233 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA19288883
rs1016615550
233 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1197908587
CA339017194
235 A>D No ClinGen
TOPMed
CA339017209
rs1442272482
235 A>T No ClinGen
gnomAD
rs199945476
CA686750
236 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs199945476
CA686751
236 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM906503
CA686749
COSM906504
rs567833720
236 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA19288866
rs747652812
239 L>M No ClinGen
Ensembl
CA339017023
rs1436901918
241 V>M No ClinGen
gnomAD
CA686748
rs747658837
242 R>M No ClinGen
ExAC
gnomAD
CA686747
rs780999060
242 R>S No ClinGen
ExAC
gnomAD
rs1179895832
CA339016953
243 L>F No ClinGen
TOPMed
CA686745
rs201829495
244 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs1482465885
CA339016948
244 A>S No ClinGen
TOPMed
CA686746
rs201829495
244 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs754091476
CA339016858
248 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA686743
rs200997121
248 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754091476
CA686742
248 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs764336476
CA686741
250 V>L No ClinGen
ExAC
gnomAD
rs4649124
CA339016821
251 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA339016790
rs1394295438
252 A>T No ClinGen
TOPMed
rs201916611
CA686739
254 L>F No ClinGen
ExAC
gnomAD
rs201916611
CA339016712
254 L>I No ClinGen
ExAC
gnomAD
CA339016436
rs1454163294
260 P>L No ClinGen
TOPMed
CA19288773
rs895889557
263 A>T No ClinGen
TOPMed
CA339016384
rs1258070138
264 L>F No ClinGen
TOPMed
rs199818268
CA686735
265 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs774735405
CA339016351
266 A>P No ClinGen
ExAC
gnomAD
rs774735405
CA686734
266 A>S No ClinGen
ExAC
gnomAD
CA686733
rs771259098
270 A>D No ClinGen
ExAC
gnomAD
rs371186526
CA686732
271 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201049279
CA686731
272 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339016215
rs1291378690
272 T>S No ClinGen
TOPMed
gnomAD
rs780744054
CA686728
275 D>A No ClinGen
ExAC
gnomAD
rs199680710
CA686727
275 D>E No ClinGen
ExAC
gnomAD
rs146922938
COSM328043
COSM328042
CA686724
280 A>V pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA339015979
rs1336110702
282 A>V No ClinGen
TOPMed
TCGA novel 283 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201941905
CA339015874
285 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs201941905
CA686722
285 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA339015863
rs1557521037
286 M>V No ClinGen
Ensembl
rs1319274495
CA339015792
288 C>Y No ClinGen
TOPMed
rs764236604
CA686721
290 I>V No ClinGen
ExAC
gnomAD
CA339015689
rs1160391158
291 N>K No ClinGen
gnomAD
rs144980121
CA686718
297 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1178172933
CA339015547
298 I>N No ClinGen
gnomAD
CA339015523
rs1307692881
299 Y>H No ClinGen
Ensembl
CA19288676
rs202124598
300 A>V No ClinGen
Ensembl
rs1352877241
CA339015478
301 L>P No ClinGen
TOPMed
gnomAD
CA19288668
rs191065191
302 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
COSM1638274
CA686717
COSM1638275
rs760083242
302 R>W bone [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1197100282
CA339015445
303 S>G No ClinGen
gnomAD
rs1367351756
CA339015408
305 E>G No ClinGen
TOPMed
CA686716
rs752079780
305 E>K No ClinGen
ExAC
gnomAD
rs766834385
CA339015396
306 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs766834385
CA686715
306 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA686713
rs773572627
307 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA686714
rs773572627
307 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs148656213
CA686712
307 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148656213
CA339015375
307 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA686710
rs776045128
308 S>F No ClinGen
ExAC
CA339015329
rs923029792
310 A>G No ClinGen
TOPMed
gnomAD
CA19288627
rs954473721
310 A>P No ClinGen
TOPMed
gnomAD
rs923029792
CA19288623
310 A>V No ClinGen
TOPMed
gnomAD
CA339015263
rs201210941
313 C>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA686709
rs550621200
313 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs375133736
CA686707
315 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs2229579
CA686706
316 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2229579
VAR_029209
CA686705
316 H>Y No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs761834077
CA19288583
319 K>N No ClinGen
TOPMed
gnomAD
CA19288575
rs201088433
320 C>* No ClinGen
Ensembl
rs778764026
CA686704
320 C>R No ClinGen
ExAC
gnomAD
CA19288579
rs201974899
320 C>S No ClinGen
ExAC
gnomAD
rs201974899
CA686703
320 C>Y No ClinGen
ExAC
gnomAD
rs1469867086
CA339015130
321 V>M No ClinGen
gnomAD
CA19288569
rs962859442
323 G>A No ClinGen
TOPMed
CA19288558
rs988922624
324 L>P No ClinGen
Ensembl
rs781339227
CA686701
325 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA686702
CA339015070
rs752937607
325 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA19288537
rs985148888
327 E>D No ClinGen
gnomAD
rs201819496
CA339015016
328 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs201819496
CA686700
328 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA686699
rs751574405
328 A>V No ClinGen
ExAC
gnomAD
rs1168010488
CA339014981
330 E>A No ClinGen
TOPMed
rs368692272
CA19288513
330 E>D No ClinGen
ESP
TOPMed
rs372132839
CA686698
330 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA19288510
rs200157579
332 A>S No ClinGen
TOPMed
gnomAD
rs201633175
CA19288509
333 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201633175
CA686696
333 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs761421274
CA686694
335 S>F No ClinGen
ExAC
gnomAD
rs199612016
CA686693
338 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs541088933
CA339014825
339 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA686689
rs541088933
339 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA339014805
rs1285005660
340 T>S No ClinGen
gnomAD
CA339014799
rs1317764755
341 E>K No ClinGen
gnomAD
rs778618350
CA686687
342 A>T No ClinGen
ExAC
TOPMed
CA19288465
rs201546828
344 G>E No ClinGen
Ensembl
rs183583549
CA19288462
345 K>E No ClinGen
1000Genomes
gnomAD
rs1334308910
CA339014712
346 I>T No ClinGen
gnomAD
rs1237637123
CA339014700
347 T>A No ClinGen
gnomAD
CA686684
rs200710174
348 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1570697772
CA339014657
349 W>S No ClinGen
Ensembl
rs1426500834
CA339014641
350 P>S No ClinGen
gnomAD
rs191952641
CA686682
352 S>C No ClinGen
1000Genomes
ExAC
gnomAD
CA339014537
rs1330595940
354 D>G No ClinGen
gnomAD
CA686681
rs199599665
354 D>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 356 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148142264
CA686679
357 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 359 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA19288443
rs1000489968
360 C>F No ClinGen
TOPMed

No associated diseases with P34972

1 regional properties for P34972

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 55 - 302 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Multi-pass membrane protein
  • Cell projection, dendrite
  • Perikaryon
  • Localizes to apical dendrite of pyramidal neurons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extrinsic component of cytoplasmic side of plasma membrane The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
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.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
cannabinoid receptor activity Combining with a cannabinoid to initiate a change in cell activity. Cannabinoids are a class of diverse chemical compounds that include the endocannabinoids and the phytocannabinoids.
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.

15 GO annotations of biological process

Name Definition
adenylate cyclase-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
cannabinoid signaling pathway A G protein-coupled receptor signaling pathway initiated by a cannabinoid binding to its receptor on the cell surface, and ending with the regulation of a downstream cellular process, e.g. transcription. Cannabinoids are a class of diverse chemical compounds that include the endocannabinoids and the phytocannabinoids.
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.
immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
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.
leukocyte chemotaxis The movement of a leukocyte in response to an external stimulus.
negative regulation of action potential Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.
negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
negative regulation of mast cell activation Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation.
negative regulation of nitric-oxide synthase activity Any process that stops or reduces the activity of the enzyme nitric-oxide synthase.
negative regulation of synaptic transmission, GABAergic Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA).
regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.
response to amphetamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amphetamine stimulus. Amphetamines consist of a group of compounds related to alpha-methylphenethylamine.
response to lipopolysaccharide Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
sensory perception of pain The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process.

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
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor 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
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
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
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
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
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
P47936 Cnr2 Cannabinoid receptor 2 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
MEECWVTEIA NGSKDGLDSN PMKDYMILSG PQKTAVAVLC TLLGLLSALE NVAVLYLILS
70 80 90 100 110 120
SHQLRRKPSY LFIGSLAGAD FLASVVFACS FVNFHVFHGV DSKAVFLLKI GSVTMTFTAS
130 140 150 160 170 180
VGSLLLTAID RYLCLRYPPS YKALLTRGRA LVTLGIMWVL SALVSYLPLM GWTCCPRPCS
190 200 210 220 230 240
ELFPLIPNDY LLSWLLFIAF LFSGIIYTYG HVLWKAHQHV ASLSGHQDRQ VPGMARMRLD
250 260 270 280 290 300
VRLAKTLGLV LAVLLICWFP VLALMAHSLA TTLSDQVKKA FAFCSMLCLI NSMVNPVIYA
310 320 330 340 350
LRSGEIRSSA HHCLAHWKKC VRGLGSEAKE EAPRSSVTET EADGKITPWP DSRDLDLSDC