P24530
PR
Gene name |
EDNRB |
Protein name |
Endothelin receptor type B |
Names |
ET-B, ET-BR, Endothelin receptor non-selective type |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1910 |
EC number |
|
Protein Class |
|
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
12 structures for P24530
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5GLH | X-ray | 280 A | PDB | ||
| 5GLI | X-ray | 250 A | PDB | ||
| 5X93 | X-ray | 220 A | PDB | ||
| 5XPR | X-ray | 360 A | PDB | ||
| 6IGK | X-ray | 200 A | A | 66-407 | PDB |
| 6IGL | X-ray | 270 A | A | 66-407 | PDB |
| 6LRY | X-ray | 300 A | A | 66-407 | PDB |
| 8HBD | EM | 299 A | R | 27-424 | PDB |
| 8HCX | EM | 350 A | C | 27-424 | PDB |
| 8IY5 | EM | 280 A | R | 27-442 | PDB |
| 8IY6 | EM | 313 A | R | 27-442 | PDB |
| AF-P24530-F1 | Predicted | AlphaFoldDB |
328 variants for P24530
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000297140 VAR_014676 rs5346 RCV000221012 RCV000897477 CA7012405 |
17 | L>F | Hirschsprung disease, susceptibility to, 2 no effect on cell membrane location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000721946 CA388453132 rs768126403 |
19 | C>* | Waardenburg syndrome type 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_003469 RCV000018117 rs1801710 RCV000224294 CA257561 RCV000216329 |
57 | G>S | Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001112194 rs201002254 CA7012381 RCV002556190 |
64 | R>L | Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1566316756 RCV000778401 |
109 | C>missing | EDNRB-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1261885036 RCV002281160 CA388452437 RCV001112193 |
131 | C>R | Hirschsprung disease, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3384918 CA7012347 rs760677132 RCV000721945 |
135 | G>S | Waardenburg syndrome type 4A pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1458799604 RCV000659494 |
174 | C>missing | Waardenburg syndrome type 4A [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_003470 CA126744 rs104894388 RCV000018114 |
183 | A>G | Waardenburg syndrome type 4A WS4A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555290659 CA388451447 RCV000659495 |
184 | S>P | Waardenburg syndrome type 4A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7012311 RCV001291323 rs781214034 RCV002464308 RCV000758016 RCV001809794 RCV001112191 |
185 | V>M | Waardenburg syndrome type 4A Variant assessed as Somatic; 0.0 impact. Hirschsprung disease, susceptibility to, 2 (hscr2) Hearing loss, autosomal recessive Aganglionosis, total intestinal Hirschsprung disease, susceptibility to, 2 [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs104894391 CA214755 RCV000659496 RCV000018120 COSM1204937 RCV001092078 |
201 | R>* | Abcd syndrome (abcds) Waardenburg syndrome type 4A Variant assessed as Somatic; 0.0 impact. large_intestine ABCD syndrome [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs876657688 CA10576942 RCV000221133 |
206 | W>* | Variant assessed as Somatic; 0.0 impact. Rare genetic deafness [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000381908 CA7012280 RCV000962313 rs5350 VAR_014678 RCV000245461 |
244 | T>M | Hirschsprung disease, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs104894390 RCV000018119 CA126745 RCV001851902 |
253 | R>* | Waardenburg syndrome type 4A Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000991940 RCV000709963 CA7012260 rs77132068 |
260 | V>F | Hirschsprung disease, susceptibility to, 2 (hscr2) ABCD syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7012261 COSM1950556 rs77132068 RCV000839975 RCV000614742 RCV001111746 |
260 | V>I | pancreas Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000660537 CA388450551 COSM1152669 rs1212186974 |
264 | A>V | Waardenburg syndrome type 4A Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000018115 CA257559 rs104894389 |
275 | W>* | Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_003471 CA126743 RCV000018113 RCV000018112 rs104894387 |
276 | W>C | Waardenburg syndrome type 4A Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 HSCR2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV001090044 rs1878958050 |
277 | L>R | Aganglionic megacolon [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_015294 | 292 | F>L | WS4A [UniProt] | Yes | UniProt |
|
RCV000018116 rs769735757 |
293 | Y>missing | Hirschsprung disease, susceptibility to, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626404 RCV000018118 CA257563 RCV001258252 RCV000222856 RCV000954472 rs5352 RCV000659497 VAR_003472 |
305 | S>N | Waardenburg syndrome type 2A Waardenburg syndrome type 4A Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7012201 VAR_003473 rs200363611 |
319 | R>W | HSCR2; sporadic [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003153794 CA7012198 COSM1147240 rs201437745 RCV000659498 |
325 | V>I | lung ovary Waardenburg syndrome type 4A Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1566304640 RCV000758015 CA388451677 |
338 | P>L | Variant assessed as Somatic; impact. Aganglionosis, total intestinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_003474 | 374 | M>I | HSCR2; decreased calcium release; no effect on cell membrane location [UniProt] | Yes | UniProt |
|
RCV000260247 CA7012178 RCV001859873 rs200939685 |
380 | C>S | Hirschsprung disease, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_003475 | 383 | P>L | HSCR2; familial; loss of cell membrane location; new cytoplasmic location [UniProt] | Yes | UniProt |
|
RCV001090043 rs1878741475 |
410 | E>Q | Aganglionic megacolon [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001109432 CA7012153 RCV001862874 rs200548885 |
419 | S>L | Hirschsprung disease, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7012144 rs144565124 RCV000310434 RCV000220584 RCV001853450 RCV000402655 RCV002517548 RCV002478768 |
429 | G>R | Waardenburg syndrome Hirschsprung Disease, Recessive Inborn genetic diseases ABCD syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001109431 CA7012141 rs750396591 |
434 | R>C | Hirschsprung disease, susceptibility to, 2 (hscr2) Hirschsprung disease, susceptibility to, 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1406054889 CA388453225 |
2 | Q>H | No |
ClinGen gnomAD |
|
|
CA388453228 rs1468720481 |
2 | Q>R | No |
ClinGen gnomAD |
|
|
rs200047993 CA7012414 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777992864 CA7012413 |
4 | P>A | No |
ClinGen ExAC gnomAD |
|
|
VAR_019285 rs12720160 CA7012412 |
5 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1239813325 CA388453201 |
7 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs5345 CA253049881 VAR_014675 |
7 | L>Q | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7012410 rs765870134 |
8 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914618888 CA253049880 |
9 | G>R | No |
ClinGen Ensembl |
|
|
rs1204381719 CA388453183 |
10 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7012408 rs754162462 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA253049879 rs199558735 |
12 | L>V | No |
ClinGen Ensembl |
|
|
rs548023225 CA253049878 |
14 | A>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs548023225 CA388453160 |
14 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA7012406 rs142767792 |
16 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388453153 rs142767792 |
16 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| VAR_078312 | 17 | L>P | probable disease-associated variant found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location [UniProt] | No | UniProt |
|
rs762469442 CA7012403 |
20 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388453118 rs1382140942 |
22 | S>A | No |
ClinGen gnomAD |
|
|
rs769618877 CA7012401 |
23 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1594373845 CA388453101 |
25 | W>G | No |
ClinGen Ensembl |
|
|
rs1235599209 CA388453094 |
26 | G>R | No |
ClinGen gnomAD |
|
|
rs1297137815 CA388453069 |
29 | R>T | No |
ClinGen Ensembl |
|
|
CA7012400 COSM1367904 rs551739242 |
30 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA7012398 rs200723251 |
32 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149740482 CA7012395 |
34 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388453031 rs1259767883 |
35 | R>T | No |
ClinGen gnomAD |
|
|
rs752856831 CA7012394 |
36 | A>D | No |
ClinGen ExAC |
|
|
CA388453025 rs1354646550 |
36 | A>S | No |
ClinGen gnomAD |
|
|
CA388453017 rs1288505904 |
37 | T>I | No |
ClinGen gnomAD |
|
|
rs779495524 CA7012393 |
38 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA253049876 rs777101295 |
39 | L>F | No |
ClinGen Ensembl |
|
|
CA253049875 rs200304077 |
43 | A>S | No |
ClinGen gnomAD |
|
|
CA388452985 rs200304077 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs1401360436 CA388452974 |
44 | E>D | No |
ClinGen TOPMed |
|
|
rs755457512 CA7012392 |
44 | E>V | No |
ClinGen ExAC |
|
|
CA253049874 rs990292887 |
45 | I>T | No |
ClinGen TOPMed |
|
|
CA388452955 rs1316261633 |
47 | T>K | No |
ClinGen gnomAD |
|
|
CA253049873 rs538237989 |
48 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
COSM1147244 CA388452935 rs1594373723 |
51 | K>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs139997339 CA253049872 |
52 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs1879929102 RCV001092079 |
53 | L>missing | No |
ClinVar dbSNP |
|
|
rs766651046 CA7012390 |
53 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388452915 rs1362059171 |
54 | W>R | No |
ClinGen gnomAD |
|
|
rs751161032 CA7012388 |
55 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs763764641 CA7012387 |
56 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142569954 CA7012385 |
60 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7012386 rs142569954 |
60 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139147111 CA7012384 |
64 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201002254 CA7012382 |
64 | R>P | Hirschsprung disease, susceptibility to, 2 (hscr2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7012383 rs139147111 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000606747 CA253049867 rs201737510 |
68 | P>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
COSM1367898 CA253049866 rs1019947807 |
69 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748181676 CA7012378 |
70 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555292048 RCV000627620 |
71 | V>missing | No |
ClinVar dbSNP |
|
|
CA7012377 rs150750272 |
72 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA253049865 rs201488838 |
73 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1230438816 CA388452792 |
75 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201207916 CA388452783 |
76 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012375 VAR_024255 rs2228271 |
76 | R>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201207916 CA388452784 |
76 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227502849 COSM1238757 CA388452773 |
77 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA388452774 rs1227502849 |
77 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388452762 rs1280900661 |
79 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1280900661 CA388452763 |
79 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA388452757 rs1403988440 |
80 | S>F | No |
ClinGen gnomAD |
|
|
rs756427784 CA7012373 |
81 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771230818 CA7012371 |
83 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012369 rs752412963 |
84 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7012370 rs752412963 |
84 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1425908419 CA388452719 |
87 | P>H | No |
ClinGen gnomAD |
|
|
CA7012367 rs759133540 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA388452716 rs1410175049 |
88 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200756568 CA7012366 |
88 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA253049863 rs1028136288 |
89 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1566316870 CA388452703 |
90 | C>F | No |
ClinGen Ensembl |
|
|
rs148189360 CA7012363 |
92 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235006032 CA388452675 |
94 | I>S | No |
ClinGen TOPMed |
|
|
CA7012362 rs772055405 |
94 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA388452672 rs1282405488 |
95 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7012360 rs774676772 |
95 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA388452658 rs1280780830 |
97 | K>E | No |
ClinGen gnomAD |
|
|
rs201575712 CA253049862 |
99 | T>I | No |
ClinGen Ensembl |
|
|
CA7012359 rs768598369 |
99 | T>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000657773 rs1064797178 CA388452617 |
102 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA253049861 rs894919134 |
103 | I>V | No |
ClinGen TOPMed |
|
|
rs780355308 CA7012357 |
104 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs780355308 CA253049860 |
104 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7012356 rs368400131 |
105 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180581930 CA388452571 |
110 | L>V | No |
ClinGen TOPMed |
|
|
CA388452563 rs1467139505 |
111 | V>E | No |
ClinGen gnomAD |
|
|
VAR_014677 CA253049859 rs5347 |
112 | F>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA388452553 rs781532939 |
113 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012354 rs781532939 |
113 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752268531 CA7012352 |
114 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000521877 rs1555291991 CA388452541 |
115 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs559289370 CA253049858 |
116 | I>T | No |
ClinGen 1000Genomes |
|
|
rs1439177895 CA388452532 |
117 | I>L | No |
ClinGen TOPMed |
|
|
rs541269180 CA7012350 |
124 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388452463 rs1566316648 |
127 | Y>F | No |
ClinGen Ensembl |
|
|
rs374619256 CA253049856 |
129 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs753395287 CA7012349 |
130 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396733251 CA388452411 |
134 | N>I | No |
ClinGen TOPMed |
|
| VAR_078313 | 137 | N>Y | probable disease-associated variant found in patients with Waardenburg syndrome 2; decreased calcium release upon endothelin 3 exposure; loss of downstream pathway activation upon endothelin 3 exposure; no effect on cell membrane location; no effect on internalization upon endothelin 3 exposure [UniProt] | No | UniProt |
|
rs1221743247 CA388452389 |
138 | I>V | No |
ClinGen gnomAD |
|
|
CA7012343 CA7012344 rs371558629 |
139 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7012345 rs143042375 |
139 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1046390473 CA388452372 |
140 | I>M | No |
ClinGen TOPMed |
|
|
rs762880632 CA7012341 |
141 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762880632 CA7012342 |
141 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200813999 CA253049854 |
141 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1594373250 CA388452363 |
142 | S>I | No |
ClinGen Ensembl |
|
|
CA388452338 rs1336072126 |
146 | G>A | No |
ClinGen gnomAD |
|
|
rs1399198786 CA388452315 |
150 | H>L | No |
ClinGen gnomAD |
|
|
rs769924328 CA7012339 |
151 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1159624775 CA388452294 |
153 | I>T | No |
ClinGen gnomAD |
|
|
rs1566316504 CA388452297 |
153 | I>V | No |
ClinGen Ensembl |
|
|
CA7012338 rs746343092 |
154 | D>G | No |
ClinGen ExAC gnomAD |
|
| VAR_078314 | 156 | P>R | probable disease-associated variant found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location [UniProt] | No | UniProt |
|
rs368159798 CA7012337 |
157 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs998395399 CA253048372 |
166 | D>V | No |
ClinGen Ensembl |
|
|
rs961311487 CA253048371 |
167 | W>R | No |
ClinGen Ensembl |
|
|
CA388451657 rs1339942721 |
170 | G>R | No |
ClinGen gnomAD |
|
|
rs778187586 CA7012317 |
172 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA7012316 rs772385532 |
172 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA388451626 rs1402105082 |
172 | E>Q | No |
ClinGen gnomAD |
|
|
rs1594360365 CA388451611 |
173 | M>L | No |
ClinGen Ensembl |
|
|
rs143312578 CA7012315 |
176 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168969805 CA388451544 |
177 | V>L | No |
ClinGen gnomAD |
|
|
CA388451547 rs1168969805 |
177 | V>M | No |
ClinGen gnomAD |
|
|
CA7012314 RCV000825920 rs201311945 |
178 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA388451510 rs1423762419 |
180 | I>L | No |
ClinGen gnomAD |
|
|
CA7012313 rs759131722 |
180 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388451494 rs1479241351 |
181 | Q>E | No |
ClinGen gnomAD |
|
|
CA388451386 rs1594360275 |
188 | T>N | No |
ClinGen Ensembl |
|
|
rs1013425803 CA253048370 |
191 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201034581 CA253048369 |
192 | L>V | No |
ClinGen Ensembl |
|
|
rs751513574 CA7012309 |
194 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388451283 rs1258768009 |
199 | R>G | No |
ClinGen gnomAD |
|
|
rs780841273 CA7012295 RCV001092077 |
201 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs780841273 CA7012296 |
201 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354645639 CA388451191 |
202 | A>V | No |
ClinGen TOPMed |
|
|
rs202068468 CA253048358 |
203 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs202068468 CA253048359 |
203 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs202068468 CA7012294 |
203 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1410186437 CA388451148 |
206 | W>R | No |
ClinGen TOPMed |
|
|
CA7012293 rs746941725 |
207 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1361744218 CA388451114 |
208 | R>K | No |
ClinGen gnomAD |
|
|
CA253048357 rs932422479 |
211 | G>R | No |
ClinGen TOPMed |
|
|
CA7012291 rs752251497 |
211 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388451050 rs1382035452 |
212 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388451028 rs1440733865 |
214 | V>I | No |
ClinGen gnomAD |
|
|
CA388450977 rs1255586825 |
217 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388450957 rs1201160161 |
218 | T>I | No |
ClinGen gnomAD |
|
|
rs751199972 CA253048355 |
223 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7012287 rs754126689 |
224 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012286 rs766452784 |
225 | I>T | No |
ClinGen ExAC gnomAD |
|
| VAR_078315 | 226 | W>del | probable disease-associated variant found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location [UniProt] | No | UniProt |
|
CA388450857 rs1312043256 |
227 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA388450848 rs1334210764 |
228 | V>A | No |
ClinGen gnomAD |
|
|
CA388450849 rs1340452566 |
228 | V>F | No |
ClinGen gnomAD |
|
|
rs1053110672 CA253048354 |
230 | V>A | No |
ClinGen Ensembl |
|
|
CA388450744 rs1397335747 |
233 | A>G | No |
ClinGen gnomAD |
|
|
rs936040711 CA253048353 |
234 | V>D | No |
ClinGen Ensembl |
|
|
CA388450715 rs1420013932 |
238 | I>T | No |
ClinGen gnomAD |
|
|
rs767943900 COSM1514507 CA7012283 |
238 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA253048351 rs973740703 |
239 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs973740703 CA388450711 |
239 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201625400 CA7012281 |
241 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs762204581 CA7012282 |
241 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776468186 CA7012278 |
245 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1216200131 CA388450670 |
245 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA388450669 rs1216200131 |
245 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371218105 CA7012277 |
246 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288566827 CA388450663 |
246 | D>N | No |
ClinGen gnomAD |
|
|
rs371218105 CA388450661 |
246 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388450665 rs1288566827 |
246 | D>Y | No |
ClinGen gnomAD |
|
|
CA7012276 rs200272603 |
247 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388450645 rs758280131 |
248 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012275 rs777697952 |
248 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs748143676 CA7012273 |
249 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs199521140 CA7012272 RCV001195231 |
250 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7012271 rs754807912 |
250 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7012270 rs754040927 |
252 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000603036 CA7012268 rs140514830 |
253 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750477425 CA7012267 |
254 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs371057149 CA388450616 |
254 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371057149 CA7012266 |
254 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368940609 CA7012265 |
258 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA253048347 rs879113182 |
258 | H>P | No |
ClinGen Ensembl |
|
|
CA7012264 rs752147666 |
258 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368940609 CA388450591 |
258 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1265700652 CA388450584 |
259 | P>R | No |
ClinGen gnomAD |
|
|
rs200431358 CA7012263 |
259 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1220991715 CA388450579 |
260 | V>G | No |
ClinGen TOPMed |
|
|
rs1347740196 COSM1477322 CA388450561 |
263 | T>A | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA388452222 rs1332382690 |
268 | F>L | No |
ClinGen gnomAD |
|
|
CA7012239 rs771549175 |
270 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1485754365 CA388452198 |
271 | T>A | No |
ClinGen TOPMed |
|
|
CA253048134 rs142295388 |
274 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388452179 rs199937989 |
274 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs199937989 CA7012237 |
274 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7012235 rs142295388 |
274 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199937989 CA7012236 |
274 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388452173 rs1422704119 |
275 | W>G | No |
ClinGen TOPMed |
|
|
CA7012234 rs104894389 |
275 | W>S | Hirschsprung disease, susceptibility to, 2 (hscr2) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs3027103 CA388452155 |
278 | F>I | No |
ClinGen Ensembl |
|
|
rs3027103 CA253048131 |
278 | F>L | No |
ClinGen Ensembl |
|
|
rs3027103 CA388452154 |
278 | F>V | No |
ClinGen Ensembl |
|
|
CA388452144 rs746051328 |
279 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs746051328 CA7012232 |
279 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs113657418 CA253048130 |
281 | Y>H | No |
ClinGen Ensembl |
|
|
CA388452064 rs1280369607 |
291 | F>L | No |
ClinGen gnomAD |
|
|
RCV000487897 CA16621647 rs1064797177 RCV001375059 |
293 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA388452048 rs1352720092 |
293 | Y>H | No |
ClinGen gnomAD |
|
|
RCV000513371 rs1555290386 |
294 | T>missing | No |
ClinVar dbSNP |
|
|
CA7012226 rs758958773 |
294 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7012224 rs765490586 |
296 | M>L | No |
ClinGen ExAC |
|
|
CA253048129 rs112067501 |
301 | L>* | No |
ClinGen gnomAD |
|
|
CA388451990 rs112067501 |
301 | L>S | No |
ClinGen gnomAD |
|
|
CA388451984 rs1415699054 |
302 | R>K | No |
ClinGen TOPMed |
|
|
rs1336420198 CA388451975 |
303 | K>R | No |
ClinGen gnomAD |
|
|
CA7012222 rs376098154 |
304 | K>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388451965 rs749996130 |
304 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012219 rs199558894 |
308 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1594357334 CA388451929 |
309 | I>M | No |
ClinGen Ensembl |
|
|
CA253048128 rs944500117 |
310 | A>T | No |
ClinGen TOPMed |
|
|
CA253048127 rs907722017 |
313 | D>N | No |
ClinGen TOPMed |
|
|
CA388451907 rs907722017 |
313 | D>Y | No |
ClinGen TOPMed |
|
|
rs1238777762 CA388451884 |
316 | K>R | No |
ClinGen gnomAD |
|
|
CA7012200 rs759543922 |
319 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA253048095 rs759543922 |
319 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA253048094 rs868348559 |
322 | A>T | No |
ClinGen Ensembl |
|
|
CA388451833 rs1233747891 |
322 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388451797 rs1216944717 |
328 | L>M | No |
ClinGen gnomAD |
|
|
CA388451769 rs1340103087 |
331 | V>L | No |
ClinGen gnomAD |
|
|
rs1279092107 CA388451736 |
333 | A>V | No |
ClinGen gnomAD |
|
|
rs866808412 CA253048092 |
337 | L>F | No |
ClinGen Ensembl |
|
|
rs1162021124 CA388451585 |
346 | K>R | No |
ClinGen TOPMed |
|
|
CA7012195 rs776554067 |
348 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA388451555 rs1293406077 |
349 | L>F | No |
ClinGen gnomAD |
|
|
CA388451528 rs1335692950 |
351 | N>D | No |
ClinGen gnomAD |
|
|
rs1437781516 CA388451518 |
351 | N>K | No |
ClinGen gnomAD |
|
|
CA388451507 rs1397373759 |
352 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388451488 rs1167913825 |
353 | N>K | No |
ClinGen gnomAD |
|
|
rs1295402804 CA388451398 |
360 | L>H | No |
ClinGen gnomAD |
|
|
rs369090616 CA253048091 |
362 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs180686892 CA253048032 |
364 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7012180 rs180686892 |
364 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202171748 CA253048031 |
369 | Y>F | No |
ClinGen TOPMed |
|
|
rs1455429720 CA388451235 |
370 | I>T | No |
ClinGen gnomAD |
|
|
rs202153354 CA388451227 |
371 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202153354 CA7012179 |
371 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177969210 CA388451159 |
377 | L>V | No |
ClinGen gnomAD |
|
|
rs754274541 CA253048028 |
381 | I>S | No |
ClinGen Ensembl |
|
|
rs1197671529 CA388451112 |
381 | I>V | No |
ClinGen gnomAD |
|
|
rs567578805 CA7012177 |
384 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1466632176 CA388450994 |
391 | K>Q | No |
ClinGen TOPMed |
|
|
CA7012175 rs773530703 |
391 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012174 rs772345263 |
393 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA253048027 rs1026039425 |
395 | N>H | No |
ClinGen Ensembl |
|
|
CA388450907 rs1378362046 |
397 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1396007412 CA388450904 |
397 | F>Y | No |
ClinGen TOPMed |
|
|
rs750260325 CA388450829 |
399 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750260325 CA7012158 |
399 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312925422 CA388450817 |
400 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1364508724 CA388450811 |
401 | L>F | No |
ClinGen TOPMed |
|
|
CA7012157 rs767275433 |
404 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566302937 CA388450788 |
404 | W>* | No |
ClinGen Ensembl |
|
|
rs202041059 CA253047882 |
407 | S>A | No |
ClinGen Ensembl |
|
|
CA388450763 rs1297352198 |
408 | F>L | No |
ClinGen gnomAD |
|
|
CA253047881 rs200670733 |
409 | E>K | No |
ClinGen Ensembl |
|
|
CA388450479 rs1319801057 |
413 | S>F | No |
ClinGen TOPMed |
|
|
CA7012156 rs762094666 |
413 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs200720978 CA7012151 |
422 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA388450414 rs1375298638 |
422 | K>N | No |
ClinGen gnomAD |
|
|
CA388450403 rs1359074336 |
424 | K>E | No |
ClinGen TOPMed |
|
|
rs771239282 CA7012148 |
425 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA388450390 rs1217607090 |
426 | N>D | No |
ClinGen TOPMed |
|
|
CA388450384 rs747813758 |
426 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7012146 rs778453066 |
427 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754498240 RCV001195188 CA388450370 |
428 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA388450372 rs1238508690 |
428 | H>R | No |
ClinGen TOPMed |
|
|
CA388450374 rs1215746671 |
428 | H>Y | No |
ClinGen TOPMed |
|
|
rs1315670514 CA388450366 |
429 | G>E | No |
ClinGen gnomAD |
|
|
CA7012143 rs568662694 |
430 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201243241 CA7012140 |
434 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750396591 CA7012142 |
434 | R>S | Hirschsprung disease, susceptibility to, 2 (hscr2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA388450325 rs757021438 |
435 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757021438 CA7012139 |
435 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751760790 CA7012138 |
436 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7012137 rs764302607 |
436 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566302677 CA388450301 |
439 | Y>H | No |
ClinGen Ensembl |
|
|
rs762959381 CA7012136 |
441 | S>L | No |
ClinGen ExAC gnomAD |
4 associated diseases with P24530
[MIM: 277580]: Waardenburg syndrome 4A (WS4A)
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269|PubMed:12189494, ECO:0000269|PubMed:8634719}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 600155]: Hirschsprung disease 2 (HSCR2)
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269|PubMed:11471546, ECO:0000269|PubMed:28236341, ECO:0000269|PubMed:8001158, ECO:0000269|PubMed:8630503, ECO:0000269|PubMed:8852660}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 600501]: ABCD syndrome (ABCDS)
An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. {ECO:0000269|PubMed:11891690}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269|PubMed:12189494, ECO:0000269|PubMed:8634719}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269|PubMed:11471546, ECO:0000269|PubMed:28236341, ECO:0000269|PubMed:8001158, ECO:0000269|PubMed:8630503, ECO:0000269|PubMed:8852660}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. {ECO:0000269|PubMed:11891690}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P24530
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 118 - 386 | IPR017452 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| endothelin receptor activity | Combining with endothelin 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. |
| peptide hormone binding | Binding to a peptide with hormonal activity in animals. |
| type 1 angiotensin receptor binding | Binding to a type 1 angiotensin receptor. |
56 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| aldosterone metabolic process | The chemical reactions and pathways involving aldosterone, a corticosteroid hormone that is produced by the zona glomerulosa of the adrenal cortex and regulates salt (sodium and potassium) and water balance. |
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (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. |
| cGMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell. |
| developmental pigmentation | The developmental process that results in the deposition of coloring matter in an organism, tissue or cell. |
| endothelin receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by endothelin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| enteric nervous system development | The process whose specific outcome is the progression of the enteric nervous system over time, from its formation to the mature structure. The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation. |
| enteric smooth muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell of the intestine. |
| epithelial fluid transport | The directed movement of fluid across epithelia. |
| establishment of endothelial barrier | The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| heparin metabolic process | The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| macrophage chemotaxis | The movement of a macrophage in response to an external stimulus. |
| melanocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a melanocyte. |
| negative regulation of adenylate cyclase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of adenylate cyclase activity. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of neuron maturation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron maturation. |
| negative regulation of protein metabolic process | Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| neural crest cell migration | The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. |
| neuroblast migration | The orderly movement of a neuroblast from one site to another, often during the development of a multicellular organism or multicellular structure. A neuroblast is any cell that will divide and give rise to a neuron. |
| peripheral nervous system development | The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. |
| pharynx development | The biological process whose specific outcome is the progression of a pharynx from an initial condition to its mature state. The pharynx is the part of the digestive system immediately posterior to the mouth. |
| phospholipase C-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG). |
| podocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a glomerular visceral epithelial cell. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of cytosolic calcium ion concentration | Any process that increases the concentration of calcium ions in the cytosol. |
| positive regulation of penile erection | Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| positive regulation of renal sodium excretion | Any process that increases the amount of sodium excreted in urine over a unit of time. |
| positive regulation of urine volume | Any process that increases the amount of urine excreted from the body over a unit of time. |
| posterior midgut development | The process whose specific outcome is the progression of the posterior midgut over time, from its formation to the mature structure. |
| protein transmembrane transport | The process in which a protein is transported across a membrane. |
| regulation of epithelial cell proliferation | Any process that modulates the frequency, rate or extent of epithelial cell proliferation. |
| regulation of fever generation | Any process that modulates the rate or extent of fever generation. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of pH | Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. |
| regulation of sensory perception of pain | Any process that modulates the frequency, rate or extent of the 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. |
| renal albumin absorption | A renal system process in which albumin is taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. |
| renal sodium excretion | The elimination of sodium ions from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. |
| renal sodium ion absorption | A renal system process in which sodium ions are taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. |
| renin secretion into blood stream | The regulated release of renin into the blood stream by juxtoglomerular cells. |
| response to endothelin | 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 endothelin stimulus. Endothelin is any of three secretory vasoconstrictive peptides (endothelin-1, -2, -3). |
| response to organic cyclic compound | 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 organic cyclic compound stimulus. |
| response to pain | 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 a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli. |
| response to sodium phosphate | 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 a sodium phosphate stimulus. |
| 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. |
| vasoconstriction | A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. |
| vasodilation | An increase in the internal diameter of blood vessels, especially arterioles or capillaries, due to relaxation of smooth muscle cells that line the vessels, and usually resulting in a decrease in blood pressure. |
| vein smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the vein. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The vein is a vessel carrying blood away from the capillary beds. |
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 |
| P34972 | CNR2 | Cannabinoid receptor 2 | 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 |
| 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 |
| 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 |
| MQPPPSLCGR | ALVALVLACG | LSRIWGEERG | FPPDRATPLL | QTAEIMTPPT | KTLWPKGSNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLARSLAPAE | VPKGDRTAGS | PPRTISPPPC | QGPIEIKETF | KYINTVVSCL | VFVLGIIGNS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLLRIIYKNK | CMRNGPNILI | ASLALGDLLH | IVIDIPINVY | KLLAEDWPFG | AEMCKLVPFI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKASVGITVL | SLCALSIDRY | RAVASWSRIK | GIGVPKWTAV | EIVLIWVVSV | VLAVPEAIGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DIITMDYKGS | YLRICLLHPV | QKTAFMQFYK | TAKDWWLFSF | YFCLPLAITA | FFYTLMTCEM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LRKKSGMQIA | LNDHLKQRRE | VAKTVFCLVL | VFALCWLPLH | LSRILKLTLY | NQNDPNRCEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSFLLVLDYI | GINMASLNSC | INPIALYLVS | KRFKNCFKSC | LCCWCQSFEE | KQSLEEKQSC |
| 430 | 440 | ||||
| LKFKANDHGY | DNFRSSNKYS | SS |