Q6U736
PR
Gene name |
OPN5 (GPR136, PGR12, TMEM13) |
Protein name |
Opsin-5 |
Names |
G-protein coupled receptor 136, G-protein coupled receptor PGR12, Neuropsin, Transmembrane protein 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221391 |
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
1 structures for Q6U736
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6U736-F1 | Predicted | AlphaFoldDB |
215 variants for Q6U736
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs376934583 CA3845762 |
2 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845760 rs568177905 |
2 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376934583 CA3845761 COSM1546705 |
2 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371528085 CA3845764 |
3 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779955605 CA3845765 |
5 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA363977029 rs1581722784 |
6 | T>P | No |
ClinGen Ensembl |
|
|
rs746842846 CA3845766 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363977045 rs1319840613 |
9 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769696116 CA3845770 |
10 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779233023 CA138653824 |
12 | E>G | No |
ClinGen Ensembl |
|
|
CA138653823 rs944688882 |
12 | E>K | No |
ClinGen Ensembl |
|
|
CA3845772 rs749418598 |
13 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1080022 rs150978153 CA3845773 |
13 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363977075 rs150978153 |
13 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845774 rs373003272 |
15 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377432555 CA3845775 |
16 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845776 rs141008387 |
18 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363977102 rs141008387 |
18 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240730978 CA363977108 |
19 | R>Q | No |
ClinGen gnomAD |
|
|
CA3845777 rs775797817 |
20 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363977133 rs1444529069 |
23 | P>A | No |
ClinGen TOPMed |
|
|
rs867948080 CA138653826 |
23 | P>L | No |
ClinGen TOPMed |
|
|
rs867948080 CA138653827 |
23 | P>R | No |
ClinGen TOPMed |
|
|
CA363977146 rs1392535084 |
25 | A>S | No |
ClinGen gnomAD |
|
|
rs761261376 CA3845778 |
25 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916898311 CA138653829 |
27 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3845779 rs149802356 |
27 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146808238 CA3845780 |
31 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3845781 COSM137458 rs762665853 |
32 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3845783 rs751385140 |
35 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363977214 rs1233419496 |
36 | A>S | No |
ClinGen gnomAD |
|
|
CA363977216 rs1233419496 |
36 | A>T | No |
ClinGen gnomAD |
|
|
CA3845786 rs781044866 |
38 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs752518176 CA3845787 |
39 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA363977255 rs1464761466 |
42 | I>T | No |
ClinGen gnomAD |
|
|
CA363977263 rs1189587066 |
43 | I>S | No |
ClinGen gnomAD |
|
|
rs769031545 CA3845815 |
44 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1561888730 CA363977345 |
54 | V>A | No |
ClinGen Ensembl |
|
|
CA363977351 rs1423585065 |
55 | L>P | No |
ClinGen gnomAD |
|
|
COSM3949296 CA138654237 rs532488505 |
56 | Y>H | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3845819 rs774020717 |
57 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1300961024 CA363977371 |
58 | S>C | No |
ClinGen gnomAD |
|
|
rs140514652 CA3845820 |
60 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138654238 rs767235828 |
61 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201533729 CA3845822 |
61 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1369913407 CA363977393 |
62 | K>R | No |
ClinGen gnomAD |
|
|
CA3845824 rs760574303 |
64 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363977430 rs1370710652 COSM1329648 |
68 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 69 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310751054 CA363977458 |
71 | M>I | No |
ClinGen gnomAD |
|
|
rs753720811 CA3845826 |
71 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA3845827 rs757212050 |
72 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA363977466 rs1309079895 |
73 | I>F | No |
ClinGen TOPMed |
|
|
rs1313882696 CA363977468 |
73 | I>T | No |
ClinGen gnomAD |
|
|
rs750541702 CA3845829 |
76 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 84 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450132384 CA363977906 |
87 | K>* | No |
ClinGen TOPMed |
|
|
rs758572074 CA3845848 |
88 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363977922 rs1189336023 |
88 | P>S | No |
ClinGen gnomAD |
|
|
rs985983285 CA138654811 |
91 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363977976 rs1289920922 |
92 | I>M | No |
ClinGen gnomAD |
|
|
CA3845850 rs145617365 |
98 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845851 rs755177267 |
101 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA138654812 rs941881001 |
105 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781654915 CA363978163 |
106 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs781654915 CA3845852 |
106 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1219866609 COSM1444969 CA363978170 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1303441120 CA363978173 |
107 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1327386811 CA363978186 |
108 | W>L | No |
ClinGen gnomAD |
|
|
CA363978180 rs1581731309 |
108 | W>R | No |
ClinGen Ensembl |
|
|
CA3845853 rs748559697 |
109 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs917254921 CA138654816 |
111 | W>* | No |
ClinGen Ensembl |
|
|
rs992802621 CA138654815 |
111 | W>* | No |
ClinGen Ensembl |
|
|
CA363978233 rs1219361355 |
112 | A>G | No |
ClinGen gnomAD |
|
|
rs778478489 CA3845855 |
114 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778478489 CA363978251 |
114 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363978306 rs1409075358 |
118 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472062728 CA363978340 |
120 | S>R | No |
ClinGen gnomAD |
|
|
CA363978351 rs1159427823 |
122 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363978403 rs1322203175 |
130 | D>N | No |
ClinGen gnomAD |
|
|
CA138654820 rs868226938 |
131 | R>* | No |
ClinGen Ensembl |
|
|
CA363978412 rs1349834900 COSM1686004 |
131 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA363978424 rs1161309286 |
133 | L>V | No |
ClinGen TOPMed |
|
|
CA3845858 rs149218296 |
137 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771554592 CA3845857 |
137 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186012373 CA363976246 |
141 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770813839 CA3845883 |
142 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976268 rs1561893427 |
145 | K>Q | No |
ClinGen Ensembl |
|
|
rs774464271 CA3845884 |
147 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3845886 rs767845016 |
149 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976298 rs767845016 |
149 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA138655170 rs1050220975 |
150 | Y>C | No |
ClinGen Ensembl |
|
|
rs752897869 CA3845887 |
150 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA363976313 rs1351900764 |
151 | I>S | No |
ClinGen TOPMed |
|
|
rs1308242705 CA363976320 |
152 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 154 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 155 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 157 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764483406 CA3845889 |
160 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976416 CA3845891 rs143358523 |
166 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845890 rs754199132 |
166 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413712031 CA363976452 |
172 | G>V | No |
ClinGen TOPMed |
|
|
CA3845895 COSM190059 rs780695747 |
175 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747748753 CA3845896 |
176 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM296112 rs1008543429 CA138655172 |
180 | G>R | pancreas large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA363976573 rs1581735042 |
190 | A>G | No |
ClinGen Ensembl |
|
|
rs1172262178 CA363976571 |
190 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1172262178 CA363976570 |
190 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA363976569 rs1172262178 |
190 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM134130 rs1403207027 CA363976594 |
193 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3845904 rs775746941 |
194 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976599 rs775746941 |
194 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976625 rs1581735098 |
198 | V>G | No |
ClinGen Ensembl |
|
|
rs200630121 CA3845905 |
200 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777040945 CA3845907 |
202 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231865053 CA363976686 |
207 | C>F | No |
ClinGen gnomAD |
|
|
CA363976701 rs1346725691 |
209 | L>F | No |
ClinGen gnomAD |
|
|
CA3845908 rs773340997 |
212 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363976730 rs1581735164 |
214 | V>G | No |
ClinGen Ensembl |
|
|
CA3845909 rs765640069 |
215 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845911 rs758925994 |
216 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA363976752 rs1322110587 |
218 | S>A | No |
ClinGen TOPMed |
|
|
CA363976754 rs1264451045 |
218 | S>C | No |
ClinGen gnomAD |
|
|
rs368242075 CA3845913 |
220 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3845914 rs755736583 |
222 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA363976793 rs777348536 |
224 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs777348536 CA3845915 |
224 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3845916 rs749103254 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1290614020 CA363976821 |
228 | S>F | No |
ClinGen gnomAD |
|
|
rs778780427 CA3845918 |
230 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976830 rs1471692820 |
230 | S>T | No |
ClinGen TOPMed |
|
|
rs745762620 CA3845919 |
231 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1218480 CA3845920 rs772178094 |
232 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA363976875 rs1287318511 |
237 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs975328159 CA138655174 |
239 | R>Q | No |
ClinGen TOPMed |
|
|
rs1211741563 CA363976897 |
240 | I>F | No |
ClinGen TOPMed |
|
|
rs768922689 CA3845923 |
240 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363976903 rs1268143016 |
241 | H>Y | No |
ClinGen TOPMed |
|
|
CA363976910 rs1354863479 |
242 | S>G | No |
ClinGen gnomAD |
|
|
CA3845924 rs776653355 |
242 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1268212273 CA363976915 |
242 | S>R | No |
ClinGen gnomAD |
|
|
CA138655176 rs972216916 |
244 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1180337784 CA363976931 |
245 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3845944 rs200503533 |
254 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3845945 rs763362808 |
255 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1316113990 CA363977574 |
256 | L>S | No |
ClinGen gnomAD |
|
|
CA3845947 rs547953463 |
263 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA138656630 rs1005508919 |
263 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA138656631 rs775948867 |
264 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA363977638 rs1220261350 |
266 | I>F | No |
ClinGen gnomAD |
|
|
CA3845950 rs753430173 |
276 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs765041131 CA3845952 |
278 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1185776553 CA363977740 |
281 | D>V | No |
ClinGen TOPMed |
|
|
CA363977763 rs1244674419 |
285 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363977775 rs1239178606 |
286 | Q>H | No |
ClinGen TOPMed |
|
|
rs868002686 CA138656633 |
293 | L>I | No |
ClinGen TOPMed |
|
|
rs751407060 CA3845956 |
299 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA138656636 rs539140048 |
299 | A>P | No |
ClinGen 1000Genomes TOPMed |
|
|
CA138656635 rs539140048 |
299 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs751407060 CA3845957 COSM3783996 |
299 | A>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748306671 CA3845959 |
304 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs139795498 CA138656638 |
305 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA3845960 rs769987040 |
305 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295284200 CA363977985 |
309 | I>T | No |
ClinGen TOPMed |
|
|
rs575735180 CA3845961 |
312 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320473532 CA363978054 |
313 | F>S | No |
ClinGen gnomAD |
|
|
rs771226463 CA3845963 |
314 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749515999 CA363978066 |
314 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3845962 rs749515999 |
314 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771226463 CA363978071 |
314 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299232653 CA363978082 |
315 | C>S | No |
ClinGen gnomAD |
|
|
CA3845964 rs774718838 |
316 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759931596 CA3845965 |
323 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3845966 rs772686072 |
324 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772686072 CA363978201 |
324 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452574208 CA363978194 |
324 | T>P | No |
ClinGen TOPMed |
|
|
rs374749183 CA3845968 |
325 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA138656640 rs868312978 |
325 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761453412 CA3845969 |
329 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363978279 rs1486776541 |
330 | E>Q | No |
ClinGen gnomAD |
|
|
CA3845971 rs369140719 |
331 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs997476005 CA138656641 |
331 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 333 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3845994 rs774001394 |
334 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363978512 rs1189436543 |
336 | T>A | No |
ClinGen TOPMed |
|
|
CA363978514 rs1375245013 |
336 | T>N | No |
ClinGen gnomAD |
|
|
COSM3394231 rs373745956 CA3845996 |
337 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756067884 CA3845998 |
338 | T>A | No |
ClinGen ExAC |
|
|
CA363978526 rs1224100656 |
338 | T>I | No |
ClinGen gnomAD |
|
|
rs753968996 CA3846000 |
339 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA138657048 rs1012381072 |
341 | R>M | No |
ClinGen TOPMed |
|
|
rs1256458278 CA363978552 |
343 | S>T | No |
ClinGen TOPMed |
|
|
CA363978563 rs1182065574 |
344 | S>F | No |
ClinGen gnomAD |
|
|
rs1233886012 CA363978564 |
345 | A>T | No |
ClinGen gnomAD |
|
|
rs757458807 CA3846001 |
346 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA138657049 rs1044176414 |
348 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA363978600 rs1165548228 |
350 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1299251610 CA363978606 |
351 | E>G | No |
ClinGen TOPMed |
|
|
CA363978604 rs1368725527 |
351 | E>K | No |
ClinGen gnomAD |
|
|
CA363978610 rs1409669663 |
352 | E>K | No |
ClinGen gnomAD |
|
|
rs1409669663 CA363978611 |
352 | E>Q | No |
ClinGen gnomAD |
|
|
rs1386180850 CA363979823 |
353 | W>G | No |
ClinGen TOPMed |
|
|
CA363979843 rs1271386199 |
354 | E>A | No |
ClinGen gnomAD |
|
|
CA138657063 rs893218328 |
354 | E>K | No |
ClinGen TOPMed |
No associated diseases with Q6U736
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 11-cis retinal binding | Binding to 11-cis retinal, an isomer of retinal that plays an important role in the visual process in most vertebrates. 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin or visual purple. Retinal is one of the three compounds that makes up vitamin A. |
| G protein-coupled photoreceptor activity | Combining with incidental electromagnetic radiation, particularly visible light, 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to light stimulus | 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 light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. |
| cellular response to UV-A | 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 UV-A radiation stimulus. UV-A radiation (UV-A light) spans the wavelengths 315 to 400 nm. |
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| hyaloid vascular plexus regression | The developmental process in which the hyaloid vascular plexus is destroyed as a part of its normal progression. |
| phototransduction | The sequence of reactions within a cell required to convert absorbed photons into a molecular signal. |
| phototransduction, UV | The sequence of reactions within a cell required to convert absorbed photons from UV light into a molecular signal; ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 400 nanometers. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
120 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 |
| P34972 | CNR2 | Cannabinoid receptor 2 | Homo sapiens (Human) | PR |
| P24530 | EDNRB | Endothelin receptor type B | Homo sapiens (Human) | PR |
| P35348 | ADRA1A | Alpha-1A adrenergic receptor | Homo sapiens (Human) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Homo sapiens (Human) | PR |
| P61073 | CXCR4 | C-X-C chemokine receptor type 4 | Homo sapiens (Human) | PR |
| Q9BXC0 | HCAR1 | Hydroxycarboxylic acid receptor 1 | Homo sapiens (Human) | PR |
| P30556 | AGTR1 | Type-1 angiotensin II receptor | Homo sapiens (Human) | PR |
| Q15761 | NPY5R | Neuropeptide Y receptor type 5 | Homo sapiens (Human) | PR |
| Q8N6U8 | GPR161 | G-protein coupled receptor 161 | Homo sapiens (Human) | PR |
| Q6DWJ6 | GPR139 | Probable G-protein coupled receptor 139 | Homo sapiens (Human) | PR |
| P21462 | FPR1 | fMet-Leu-Phe receptor | Homo sapiens (Human) | PR |
| P35414 | APLNR | Apelin receptor | Homo sapiens (Human) | PR |
| P46091 | CMKLR2 | Chemerin-like receptor 2 | Homo sapiens (Human) | PR |
| P32745 | SSTR3 | Somatostatin receptor type 3 | Homo sapiens (Human) | PR |
| P41439 | FOLR3 | Folate receptor gamma | Homo sapiens (Human) | PR |
| P04000 | OPN1LW | Long-wave-sensitive opsin 1 | Homo sapiens (Human) | PR |
| P04001 | OPN1MW | Medium-wave-sensitive opsin 1 | 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 |
| 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 |
| Q6VZZ7 | Opn5 | Opsin-5 | 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 |
| MALNHTALPQ | DERLPHYLRD | GDPFASKLSW | EADLVAGFYL | TIIGILSTFG | NGYVLYMSSR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKKKLRPAEI | MTINLAVCDL | GISVVGKPFT | IISCFCHRWV | FGWIGCRWYG | WAGFFFGCGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LITMTAVSLD | RYLKICYLSY | GVWLKRKHAY | ICLAAIWAYA | SFWTTMPLVG | LGDYVPEPFG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSCTLDWWLA | QASVGGQVFI | LNILFFCLLL | PTAVIVFSYV | KIIAKVKSSS | KEVAHFDSRI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSSHVLEMKL | TKVAMLICAG | FLIAWIPYAV | VSVWSAFGRP | DSIPIQLSVV | PTLLAKSAAM |
| 310 | 320 | 330 | 340 | 350 | |
| YNPIIYQVID | YKFACCQTGG | LKATKKKSLE | GFRLHTVTTV | RKSSAVLEIH | EEWE |