P46093
Gene name |
GPR4 |
Protein name |
G-protein coupled receptor 4 |
Names |
G-protein coupled receptor 6C.l, GPR6C.l |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2828 |
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 P46093
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P46093-F1 | Predicted | AlphaFoldDB |
254 variants for P46093
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9517706 rs755596295 |
3 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs751982761 CA9517704 |
5 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9517702 rs757801617 |
6 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1157236809 CA406385492 |
9 | C>Y | No |
ClinGen gnomAD |
|
|
CA406385474 rs199791684 |
10 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9517701 rs150678448 |
10 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316000841 CA406385464 |
11 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs1482241253 CA406385441 |
12 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1179589214 CA406385434 |
13 | S>W | No |
ClinGen TOPMed |
|
|
COSM1208716 CA406385422 rs1244375627 |
14 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763872953 CA9517697 |
15 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366698452 CA406385385 |
16 | D>E | No |
ClinGen TOPMed |
|
|
rs1297732910 CA406385326 |
20 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 20 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227581520 CA406385284 |
23 | L>R | No |
ClinGen gnomAD |
|
|
CA406385293 rs1369720675 |
23 | L>V | No |
ClinGen TOPMed |
|
|
CA9517693 rs762899015 |
27 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9517692 rs773569959 |
28 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1318699174 CA406385205 |
29 | G>A | No |
ClinGen gnomAD |
|
|
CA308983006 rs923000730 |
29 | G>S | No |
ClinGen Ensembl |
|
|
CA9517691 rs770079267 |
30 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9517689 rs748363812 |
35 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1422515396 CA406384965 |
41 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA406384951 rs1600018292 |
42 | A>P | No |
ClinGen Ensembl |
|
|
CA406384919 rs1600018282 |
43 | Y>S | No |
ClinGen Ensembl |
|
|
CA9517685 rs780388154 |
44 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469399830 CA406384891 COSM998250 |
44 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA308982981 rs780388154 |
44 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757931306 CA9517684 |
47 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959207673 CA308982971 |
48 | Q>K | No |
ClinGen TOPMed |
|
|
rs745312311 CA9517682 COSM3104374 |
49 | R>C | ovary Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA308982964 rs964312226 COSM1579923 |
49 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA308982961 rs1034865115 |
50 | N>Y | No |
ClinGen TOPMed |
|
|
CA9517680 rs753457588 |
54 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA9517679 rs753457588 |
54 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9517678 rs763926050 |
59 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755814980 CA9517677 |
60 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA406384547 rs1568416369 COSM3797263 |
61 | I>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9517675 rs767287643 |
63 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406384443 rs1369298586 |
68 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9517670 rs776948508 |
72 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308982925 rs776948508 |
72 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406384267 rs1234243900 |
79 | H>Y | No |
ClinGen gnomAD |
|
|
rs1465730638 CA406384237 |
80 | H>Q | No |
ClinGen TOPMed |
|
|
rs183839594 CA9517668 |
80 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776079288 CA9517667 |
81 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1272435176 CA406384194 |
84 | I>V | No |
ClinGen gnomAD |
|
|
CA9517665 rs746369761 |
85 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756737747 CA406384166 |
86 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs756737747 CA9517663 |
86 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1375869338 CA406384136 |
88 | G>A | No |
ClinGen gnomAD |
|
|
rs1363606469 CA406384141 |
88 | G>R | No |
ClinGen TOPMed |
|
|
rs551318972 CA9517662 |
89 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348972778 CA406384110 |
90 | C>G | No |
ClinGen gnomAD |
|
|
rs1348972778 CA406384112 |
90 | C>R | No |
ClinGen gnomAD |
|
|
rs1296724056 CA406384089 |
91 | K>R | No |
ClinGen TOPMed |
|
|
CA9517660 rs755939582 |
92 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1466950875 CA406384034 |
95 | F>S | No |
ClinGen gnomAD |
|
|
rs373741420 CA308982870 |
96 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA406383956 rs1600017999 |
99 | T>P | No |
ClinGen Ensembl |
|
|
rs1174815621 CA406383942 |
100 | N>H | No |
ClinGen gnomAD |
|
|
CA9517657 rs767326039 |
101 | I>V | No |
ClinGen ExAC |
|
|
CA9517656 rs754934144 |
105 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA406383821 rs1472156703 COSM1712505 |
106 | A>T | Variant assessed as Somatic; 4.624e-05 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1306559855 CA406383809 |
107 | F>L | No |
ClinGen gnomAD |
|
|
CA406383787 rs1249279251 |
108 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 118 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318777456 CA406383615 |
120 | A>V | No |
ClinGen gnomAD |
|
|
CA308982850 rs879046173 |
121 | H>P | No |
ClinGen gnomAD |
|
|
rs764165492 CA9517651 |
124 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764165492 CA406383560 |
124 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144692714 CA406383544 |
125 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406383530 rs1387169016 |
126 | A>G | No |
ClinGen TOPMed |
|
|
CA406383528 rs1387169016 |
126 | A>V | No |
ClinGen TOPMed |
|
|
CA9517649 rs772451809 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9517647 rs760083666 |
127 | R>H | No |
ClinGen ExAC |
|
|
CA9517648 rs772451809 |
127 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301573697 CA406383522 |
128 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308982794 rs533175285 |
130 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770457704 CA406383508 |
131 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9517645 rs770457704 |
131 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1385402808 CA406383496 |
132 | K>N | No |
ClinGen TOPMed |
|
|
rs748728533 CA9517644 |
133 | T>N | No |
ClinGen ExAC |
|
|
rs77868669 CA308982793 |
133 | T>P | No |
ClinGen Ensembl |
|
|
COSM566837 CA406383491 rs1409302412 |
134 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9517641 rs747828205 |
134 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540270313 CA9517639 |
135 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751583719 CA9517638 |
136 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9517636 rs757428926 |
137 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9517635 rs754030314 |
139 | S>F | No |
ClinGen ExAC |
|
|
CA9517634 rs764232226 |
140 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760848155 CA9517633 |
141 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1326378593 CA406383442 |
142 | W>* | No |
ClinGen TOPMed |
|
|
CA406383436 COSM3692878 rs1303575895 |
143 | A>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1261191508 CA406383418 |
146 | L>V | No |
ClinGen TOPMed |
|
|
CA406383409 rs1488055203 |
147 | G>V | No |
ClinGen TOPMed |
|
|
rs1366750026 CA406383405 |
148 | A>V | No |
ClinGen gnomAD |
|
|
CA406383389 rs1320717320 |
150 | S>L | No |
ClinGen gnomAD |
|
|
rs781390832 CA308982720 |
151 | A>T | No |
ClinGen TOPMed |
|
|
CA406383384 rs1386058464 |
151 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 154 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964429170 CA308982698 |
154 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1409854238 CA406383362 |
155 | H>P | No |
ClinGen TOPMed |
|
|
rs771369207 CA9517627 |
156 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763434229 CA406383344 CA9517626 |
157 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390698843 CA406383349 |
157 | E>K | No |
ClinGen gnomAD |
|
|
CA9517624 rs769312976 |
160 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 161 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406383314 rs1488368049 |
162 | R>L | No |
ClinGen gnomAD |
|
|
CA406383307 rs1263982744 |
163 | Y>C | No |
ClinGen gnomAD |
|
|
rs1600017615 CA406383272 |
168 | C>R | No |
ClinGen Ensembl |
|
|
CA9517620 rs746746642 |
174 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1349769638 CA406383224 |
174 | M>T | No |
ClinGen TOPMed |
|
|
CA9517619 rs779982502 |
175 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1305313766 CA406383198 |
177 | W>C | No |
ClinGen TOPMed |
|
|
rs750344560 CA9517617 |
179 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405169726 CA406383187 |
179 | A>V | No |
ClinGen TOPMed |
|
|
CA9517616 rs777765101 |
181 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966804387 CA308982608 |
188 | V>L | No |
ClinGen Ensembl |
|
|
rs1370574841 CA406383120 |
189 | G>D | No |
ClinGen TOPMed |
|
|
CA406383114 rs1419166216 |
190 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752893984 CA9517614 |
191 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9517613 rs767657889 |
192 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1224930620 CA406383102 |
192 | F>S | No |
ClinGen TOPMed |
|
|
rs78022169 CA308982604 |
193 | P>L | No |
ClinGen TOPMed |
|
|
rs78022169 CA308982602 |
193 | P>R | No |
ClinGen TOPMed |
|
|
rs1379388145 CA406383088 |
194 | W>L | No |
ClinGen gnomAD |
|
|
rs778403402 CA9517611 |
195 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308982592 rs754537867 |
195 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA406383078 rs1293668571 |
196 | L>F | No |
ClinGen TOPMed |
|
|
CA406383073 rs1265516913 |
197 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406383069 rs1568416086 |
197 | M>R | No |
ClinGen Ensembl |
|
|
rs1184843317 CA406383050 |
200 | S>L | No |
ClinGen gnomAD |
|
|
rs773744239 CA9517608 |
202 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406383039 rs773744239 |
202 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763487176 CA9517609 |
202 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406383007 rs1233334346 |
208 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1032163058 CA308982578 |
210 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1000314680 CA308982567 |
216 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9517603 rs746656909 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771971661 CA9517601 |
226 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9517602 rs771971661 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9517599 rs778870088 |
228 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA406382774 rs1376170039 |
228 | S>R | No |
ClinGen gnomAD |
|
|
CA406382753 rs1352373705 |
230 | I>L | No |
ClinGen TOPMed |
|
|
rs781235524 CA9517596 |
235 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9517593 rs377525265 CA9517594 |
242 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377525265 CA406382581 |
242 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9517591 rs758753596 |
243 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs750901780 CA9517590 |
244 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1378434174 CA406382497 |
246 | S>F | No |
ClinGen TOPMed |
|
|
rs1200574979 CA406382490 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406382492 rs1200574979 |
247 | R>G | No |
ClinGen gnomAD |
|
|
CA406382472 rs1260893166 |
248 | S>G | No |
ClinGen gnomAD |
|
|
rs765721836 CA9517589 |
249 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763667046 CA9517587 |
250 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763667046 CA9517586 |
250 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334699507 CA406382426 |
251 | Y>C | No |
ClinGen gnomAD |
|
|
rs1342241319 CA406382429 |
251 | Y>H | No |
ClinGen gnomAD |
|
|
CA406382409 rs1227343789 |
252 | L>V | No |
ClinGen TOPMed |
|
|
rs1260363525 CA406382395 |
253 | G>S | No |
ClinGen gnomAD |
|
|
rs1239976098 CA406382367 |
254 | R>C | No |
ClinGen gnomAD |
|
|
CA9517584 rs775235668 |
254 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772022850 CA9517582 |
256 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA406382331 CA406382329 rs1322820746 |
256 | W>R | No |
ClinGen gnomAD |
|
|
CA308982458 rs905938359 |
257 | D>E | No |
ClinGen Ensembl |
|
|
rs774169091 CA9517580 |
260 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1439750022 CA406382191 |
262 | E>D | No |
ClinGen TOPMed |
|
|
rs753280506 CA9517579 |
263 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568415993 CA406382152 |
265 | F>C | No |
ClinGen Ensembl |
|
|
CA406382157 rs1441350570 |
265 | F>L | No |
ClinGen gnomAD |
|
|
rs749174567 CA9517578 |
268 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781286683 CA9517577 |
269 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9517574 rs747251978 |
275 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs750862282 CA9517571 |
281 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750862282 CA9517572 |
281 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406381802 rs1600017061 |
282 | D>A | No |
ClinGen Ensembl |
|
|
CA9517568 rs754375362 |
285 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1435889609 CA406381722 |
286 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9517566 rs760223630 |
288 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA406381633 rs1163195414 |
291 | E>* | No |
ClinGen gnomAD |
|
|
rs1392557876 CA406381616 |
292 | G>D | No |
ClinGen gnomAD |
|
|
rs1472136523 CA406381622 |
292 | G>S | No |
ClinGen gnomAD |
|
|
rs759097182 CA9517563 |
293 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_049390 CA308982394 rs36012326 |
295 | S>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs755698522 CA308982392 |
295 | S>R | No |
ClinGen TOPMed |
|
|
rs371114196 CA308982391 |
296 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247061369 CA406381563 |
296 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406381565 rs1247061369 |
296 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA406381551 rs1213149128 |
296 | D>V | No |
ClinGen gnomAD |
|
|
rs1268179353 CA406381540 |
297 | V>M | No |
ClinGen TOPMed |
|
|
rs1341810841 CA406381485 |
300 | A>T | No |
ClinGen TOPMed |
|
|
rs1290241344 CA406381418 |
303 | N>S | No |
ClinGen gnomAD |
|
|
COSM998243 rs768730163 CA9517559 |
306 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768730163 CA9517558 |
306 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs201509344 CA9517557 |
306 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9517556 rs780097987 |
311 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9517555 rs372410283 |
313 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308982367 rs900703201 |
314 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 315 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406381190 rs1244200477 |
315 | E>K | No |
ClinGen TOPMed |
|
|
CA308982365 rs933577404 |
316 | M>I | No |
ClinGen Ensembl |
|
|
rs746047354 CA9517554 |
318 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406381056 rs1169735251 |
321 | L>I | No |
ClinGen gnomAD |
|
|
CA406381046 rs1429850311 |
321 | L>P | No |
ClinGen gnomAD |
|
|
CA406381055 rs1169735251 |
321 | L>V | No |
ClinGen gnomAD |
|
|
CA406381020 rs1388947877 |
323 | L>V | No |
ClinGen gnomAD |
|
|
rs757517157 CA9517552 |
326 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1406806571 CA406380940 |
327 | L>P | No |
ClinGen TOPMed |
|
|
CA406380934 rs1600016829 |
328 | T>P | No |
ClinGen Ensembl |
|
|
rs755697057 CA9517549 |
329 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406380906 rs755697057 |
329 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9517547 rs766931648 |
332 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431148486 CA406380838 |
333 | S>G | No |
ClinGen TOPMed |
|
|
CA308982344 rs528955502 |
334 | T>K | No |
ClinGen gnomAD |
|
|
CA308982347 rs917571690 |
334 | T>S | No |
ClinGen TOPMed |
|
|
rs1341552176 CA406380813 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs943571939 CA308982342 |
336 | K>E | No |
ClinGen Ensembl |
|
|
rs759269013 CA9517546 |
337 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9517545 rs751145496 |
338 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406380774 rs751145496 |
338 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406380753 rs1600016757 |
339 | T>I | No |
ClinGen Ensembl |
|
|
rs1368639765 CA406380734 |
341 | S>R | No |
ClinGen gnomAD |
|
|
CA406380729 rs1274459785 |
342 | W>L | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406380722 rs1352660136 |
343 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1352660136 CA406380721 |
343 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9517544 rs766216041 |
343 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352660136 CA406380720 |
343 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200530342 CA9517542 |
344 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9517541 rs769783412 |
344 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761739112 CA9517540 |
345 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1600016703 CA406380715 |
345 | T>P | No |
ClinGen Ensembl |
|
|
rs551669816 CA9517538 |
346 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs551669816 CA406380707 |
346 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1203914271 CA406380708 |
346 | P>S | No |
ClinGen TOPMed |
|
|
rs778965698 CA9517536 |
347 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA308982325 rs945031275 |
351 | D>N | No |
ClinGen TOPMed |
|
|
CA406380679 rs945031275 |
351 | D>Y | No |
ClinGen TOPMed |
|
|
CA9517534 rs749605411 |
352 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs145450390 CA9517531 |
359 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9517532 rs201440587 |
359 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406380618 rs1426045079 |
360 | P>L | No |
ClinGen Ensembl |
|
|
CA406380615 rs1331662690 |
361 | A>T | No |
ClinGen gnomAD |
|
|
rs754393335 CA9517529 |
361 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228150117 CA406380609 |
362 | Q>E | No |
ClinGen gnomAD |
No associated diseases with P46093
1 regional properties for P46093
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 34 - 286 | IPR017452 |
2 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
12 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). |
| angiogenesis involved in wound healing | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury. |
| 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. |
| glomerular mesangial cell development | The process whose specific outcome is the progression of a glomerular mesangial cell in the kidney over time, from its formation to the mature structure. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| 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). |
| positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway | Any process that increases the concentration of calcium ions in the cytosol that occurs as part of a PLC-activating G protein-coupled receptor signaling pathway. G-protein-activated PLC hydrolyses phosphatidylinositol-bisphosphate (PIP2) to release diacylglycerol (DAG) and inositol trisphosphate (IP3). IP3 then binds to calcium release channels in the endoplasmic reticulum (ER) to trigger calcium ion release into the cytosol. |
| positive regulation of inflammatory response | Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
| positive regulation of Rho protein signal transduction | Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction. |
| regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
| regulation of vascular permeability | Any process that modulates the extent to which blood vessels can be pervaded by fluid. |
| response to acidic pH | 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 pH stimulus with pH < 7. pH is a measure of the acidity or basicity of an aqueous solution. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1JQB3 | GPR4 | G-protein coupled receptor 4 | Bos taurus (Bovine) | PR |
| O46685 | GPR68 | Ovarian cancer G-protein coupled receptor 1 | Bos taurus (Bovine) | PR |
| Q8BUD0 | Gpr4 | G-protein coupled receptor 4 | Mus musculus (Mouse) | PR |
| Q8BFQ3 | Gpr68 | Ovarian cancer G-protein coupled receptor 1 | Mus musculus (Mouse) | PR |
| P50132 | GPR4 | G-protein coupled receptor 4 | Sus scrofa (Pig) | PR |
| Q4KLH9 | Gpr4 | G-protein coupled receptor 4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGNHTWEGCH | VDSRVDHLFP | PSLYIFVIGV | GLPTNCLALW | AAYRQVQQRN | ELGVYLMNLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IADLLYICTL | PLWVDYFLHH | DNWIHGPGSC | KLFGFIFYTN | IYISIAFLCC | ISVDRYLAVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HPLRFARLRR | VKTAVAVSSV | VWATELGANS | APLFHDELFR | DRYNHTFCFE | KFPMEGWVAW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MNLYRVFVGF | LFPWALMLLS | YRGILRAVRG | SVSTERQEKA | KIKRLALSLI | AIVLVCFAPY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HVLLLSRSAI | YLGRPWDCGF | EERVFSAYHS | SLAFTSLNCV | ADPILYCLVN | EGARSDVAKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LHNLLRFLAS | DKPQEMANAS | LTLETPLTSK | RNSTAKAMTG | SWAATPPSQG | DQVQLKMLPP |
| AQ |