P49802
Gene name |
RGS7 |
Protein name |
Regulator of G-protein signaling 7 |
Names |
RGS7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6000 |
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
252 variants for P49802
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs548863531 CA1478403 |
7 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA345662975 rs1467650988 |
7 | Y>H | No |
ClinGen TOPMed |
|
rs1298829020 CA345662948 |
11 | S>G | No |
ClinGen gnomAD |
|
CA1478402 CA345662933 rs764551447 |
13 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760771554 CA1478401 |
14 | V>A | No |
ClinGen ExAC gnomAD |
|
rs892506261 CA40880031 |
15 | A>T | No |
ClinGen TOPMed |
|
CA345662902 rs1162411700 |
18 | S>T | No |
ClinGen gnomAD |
|
CA40880028 rs1056550223 |
19 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA345662895 rs1056550223 |
19 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs939442638 CA40880024 |
20 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA40880019 rs1021181842 |
23 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA345662871 rs904136462 |
23 | V>L | No |
ClinGen Ensembl |
|
rs904136462 CA40880021 |
23 | V>M | No |
ClinGen Ensembl |
|
CA1478369 COSM242617 rs746558865 |
29 | D>G | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs758148829 CA1478367 |
30 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478365 rs778008778 |
33 | R>Q | No |
ClinGen ExAC gnomAD |
|
COSM78413 rs749609576 CA1478366 |
33 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1208853828 CA345662747 COSM679723 COSM1146266 |
35 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1316442705 COSM1690047 CA345662733 COSM1690046 |
37 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs141493148 CA1478363 |
38 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1307575733 CA345662717 |
39 | N>T | No |
ClinGen gnomAD |
|
CA345662694 rs1307633146 |
42 | P>L | No |
ClinGen TOPMed |
|
CA1478361 COSM1668612 COSM1668611 rs755007339 |
44 | R>C | skin haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1478362 rs755007339 |
44 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478360 rs751658199 |
44 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345662684 rs751658199 |
44 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478359 COSM1502003 COSM1502002 rs766529566 |
45 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA40724717 rs200443168 |
46 | V>I | No |
ClinGen Ensembl |
|
CA345662672 rs1558716091 |
47 | K>E | No |
ClinGen Ensembl |
|
rs141019066 CA40724713 |
49 | F>L | No |
ClinGen ESP |
|
rs1027207051 CA40724709 |
52 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs764927353 CA1478356 |
53 | I>M | No |
ClinGen ExAC gnomAD |
|
rs765729186 CA40724700 |
56 | V>I | No |
ClinGen Ensembl |
|
rs1176674546 CA345662597 |
58 | S>P | No |
ClinGen gnomAD |
|
rs1228779252 CA345662560 |
61 | D>N | No |
ClinGen TOPMed |
|
CA1478341 rs780101969 |
62 | I>F | No |
ClinGen ExAC gnomAD |
|
CA1478340 rs758531037 |
63 | V>I | No |
ClinGen ExAC gnomAD |
|
rs545703283 CA1478338 |
67 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs761475957 CA1478337 |
69 | N>D | No |
ClinGen ExAC gnomAD |
|
CA1478336 rs753691747 |
69 | N>K | No |
ClinGen ExAC gnomAD |
|
rs573507054 CA345662490 |
71 | T>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA40657222 rs573507054 |
71 | T>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs764068135 CA1478335 |
72 | I>V | No |
ClinGen ExAC gnomAD |
|
CA345662464 rs775622578 |
74 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345662462 COSM1146261 COSM679729 rs1338519941 |
75 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA345662420 rs1408037935 |
78 | A>V | No |
ClinGen gnomAD |
|
COSM1139098 rs1464800121 CA345662419 COSM533685 |
79 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
COSM1139097 rs1352441637 COSM533686 CA345662400 |
81 | L>F | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA1478313 rs752664517 |
87 | A>G | No |
ClinGen ExAC gnomAD |
|
rs116225378 CA40632136 |
87 | A>T | No |
ClinGen 1000Genomes |
|
CA1478310 rs773920063 |
89 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1018514437 CA40632109 |
93 | P>S | No |
ClinGen Ensembl |
|
CA1478309 rs765891866 |
94 | I>V | No |
ClinGen ExAC gnomAD |
|
rs959673437 CA40632100 |
96 | D>G | No |
ClinGen TOPMed |
|
CA1478308 rs762654930 |
102 | K>R | No |
ClinGen ExAC gnomAD |
|
CA40632090 rs202033477 |
103 | D>N | No |
ClinGen gnomAD |
|
CA40632082 rs202033477 |
103 | D>Y | No |
ClinGen gnomAD |
|
rs888619562 CA40632075 |
106 | T>A | No |
ClinGen Ensembl |
|
rs1048514765 CA40632069 |
107 | F>S | No |
ClinGen gnomAD |
|
CA40632055 rs747767217 |
109 | R>Q | No |
ClinGen Ensembl |
|
rs370775204 CA1478307 |
109 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA345662217 rs1243702189 |
110 | F>I | No |
ClinGen gnomAD |
|
rs138071681 CA1478305 |
111 | Q>* | No |
ClinGen ESP ExAC |
|
rs772399469 CA1478286 |
112 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345662119 rs772399469 |
112 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478283 rs771008552 |
118 | S>A | No |
ClinGen ExAC gnomAD |
|
COSM1340596 rs770058894 CA1478261 COSM1340595 |
130 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs12759971 CA40578215 |
136 | T>I | No |
ClinGen Ensembl |
|
CA345662145 rs1456990105 |
136 | T>S | No |
ClinGen gnomAD |
|
CA40578209 VAR_057153 rs12746550 |
137 | M>L | No |
ClinGen UniProt TOPMed dbSNP |
|
CA345662139 rs12746550 |
137 | M>V | No |
ClinGen TOPMed |
|
rs1327665185 CA345662116 |
138 | Q>P | No |
ClinGen gnomAD |
|
rs1204654489 CA345662103 |
139 | N>D | No |
ClinGen TOPMed |
|
CA345662084 rs1252532005 |
140 | K>Q | No |
ClinGen TOPMed |
|
CA345662079 rs1479954489 |
140 | K>R | No |
ClinGen TOPMed |
|
CA345662060 rs1184915764 |
142 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs748379736 CA1478260 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345662051 rs1395888367 |
143 | L>V | No |
ClinGen gnomAD |
|
rs149172715 CA1478257 |
146 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149172715 CA345662008 |
146 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149172715 CA1478258 |
146 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780001267 CA1478256 |
147 | D>H | No |
ClinGen ExAC gnomAD |
|
rs780001267 CA345661998 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1558386363 CA345661972 |
148 | Y>C | No |
ClinGen Ensembl |
|
rs374541154 CA40577633 |
154 | A>D | No |
ClinGen ESP TOPMed |
|
CA1478232 rs755739521 |
154 | A>T | No |
ClinGen ExAC gnomAD |
|
CA40577614 rs777326836 |
157 | Q>* | No |
ClinGen Ensembl |
|
rs758875880 CA1478229 |
159 | A>T | No |
ClinGen ExAC gnomAD |
|
CA1478227 rs765867861 |
162 | R>P | No |
ClinGen ExAC gnomAD |
|
rs765867861 CA345661708 |
162 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA1478228 rs750946518 |
162 | R>W | No |
ClinGen ExAC gnomAD |
|
CA345661675 rs1247347526 |
166 | F>L | No |
ClinGen gnomAD |
|
CA345661660 rs1350419532 |
168 | F>L | No |
ClinGen gnomAD |
|
rs1224169989 CA345661658 |
169 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA345661617 rs1444669862 |
174 | Q>R | No |
ClinGen gnomAD |
|
CA1478226 rs761913385 |
175 | A>E | No |
ClinGen ExAC gnomAD |
|
CA345661611 rs1336538191 |
175 | A>S | No |
ClinGen gnomAD |
|
rs762798296 CA1478200 |
177 | V>M | No |
ClinGen ExAC gnomAD |
|
CA1478199 rs773245027 |
181 | R>G | No |
ClinGen ExAC gnomAD |
|
CA40577496 rs868834863 |
182 | D>N | No |
ClinGen Ensembl |
|
CA345661511 rs1362311123 |
187 | K>M | No |
ClinGen TOPMed |
|
rs539010919 CA1478198 |
188 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA345661500 rs1316436060 |
189 | L>F | No |
ClinGen TOPMed |
|
CA345661479 rs1362184452 |
192 | Q>E | No |
ClinGen TOPMed |
|
CA1478193 rs757704447 |
200 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345661335 rs1218138016 |
202 | P>S | No |
ClinGen TOPMed |
|
rs528606729 CA40577448 |
203 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs528606729 CA1478190 |
203 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1446889608 CA345661373 |
210 | T>A | No |
ClinGen gnomAD |
|
rs1026793444 CA40548801 |
212 | V>A | No |
ClinGen TOPMed |
|
rs1278741110 CA345661274 |
219 | R>I | No |
ClinGen TOPMed |
|
rs1572283391 CA345661252 |
222 | N>T | No |
ClinGen Ensembl |
|
rs765027812 CA1478161 |
224 | H>D | No |
ClinGen ExAC gnomAD |
|
rs1345354325 CA345661235 |
224 | H>Q | No |
ClinGen TOPMed |
|
CA345661225 rs1205364312 |
226 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA345661223 rs1358792207 |
226 | T>K | No |
ClinGen gnomAD |
|
CA345661224 rs1205364312 |
226 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs761828408 CA1478160 |
227 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763664917 CA1478158 |
228 | K>T | No |
ClinGen ExAC gnomAD |
|
CA1478145 rs758661574 |
231 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478144 rs750668634 |
232 | G>D | No |
ClinGen ExAC gnomAD |
|
CA345661175 rs1228547642 |
232 | G>S | No |
ClinGen gnomAD |
|
CA345661165 rs757155616 CA1478142 |
233 | L>F | No |
ClinGen ExAC gnomAD |
|
CA345661135 rs1392136424 |
237 | I>T | No |
ClinGen gnomAD |
|
CA345661140 rs1572224082 |
237 | I>V | No |
ClinGen Ensembl |
|
CA1478140 rs199976031 |
238 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760219259 CA1478139 |
240 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1160188284 CA345661091 |
244 | H>D | No |
ClinGen TOPMed gnomAD |
|
rs1480200259 CA345661085 |
244 | H>Q | No |
ClinGen gnomAD |
|
rs1160188284 CA345661092 |
244 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA345661082 rs1237935531 |
245 | T>A | No |
ClinGen TOPMed |
|
CA345661074 rs1427324166 |
246 | P>R | No |
ClinGen gnomAD |
|
rs972020439 CA40543367 |
246 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA40543355 rs1056552843 |
249 | E>* | No |
ClinGen Ensembl |
|
CA1478138 rs775067217 |
251 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA1478136 rs759225887 |
252 | P>R | No |
ClinGen ExAC gnomAD |
|
CA1478137 rs773208905 |
252 | P>S | No |
ClinGen ExAC gnomAD |
|
CA40543341 rs773208905 |
252 | P>T | No |
ClinGen ExAC gnomAD |
|
rs773917817 CA1478135 |
253 | P>L | No |
ClinGen ExAC gnomAD |
|
rs773917817 CA345661034 |
253 | P>R | No |
ClinGen ExAC gnomAD |
|
rs770126499 CA1478134 |
256 | D>N | No |
ClinGen ExAC gnomAD |
|
CA345660954 rs1225911094 |
262 | I>M | No |
ClinGen gnomAD |
|
CA1478114 rs115003204 |
264 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1478112 rs761238784 |
267 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1410561000 CA345660915 |
268 | Q>K | No |
ClinGen Ensembl |
|
CA345660892 rs1442901420 |
271 | R>G | No |
ClinGen TOPMed |
|
rs745956675 CA1478109 |
273 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs772169550 CA1478110 COSM1584285 COSM171159 |
273 | R>W | large_intestine endometrium skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs779232880 CA1478108 |
274 | L>I | No |
ClinGen ExAC gnomAD |
|
CA1478106 rs138506883 |
279 | V>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs777694599 CA1478105 |
280 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478103 rs752661406 |
281 | D>E | No |
ClinGen ExAC gnomAD |
|
rs755905595 CA1478104 |
281 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345660827 rs755905595 |
281 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345660817 rs1193619517 |
282 | S>N | No |
ClinGen gnomAD |
|
CA1478080 rs754885973 |
285 | S>I | No |
ClinGen ExAC gnomAD |
|
COSM679748 rs751557145 CA1478079 COSM1146246 |
287 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1179948133 CA345660760 |
289 | Q>R | No |
ClinGen gnomAD |
|
CA345660751 rs1473340373 |
290 | Y>C | No |
ClinGen gnomAD |
|
rs537711209 CA1478076 |
291 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1478075 rs764819020 |
294 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1249029275 CA345660715 |
295 | P>L | No |
ClinGen gnomAD |
|
rs1029579821 CA40542273 |
296 | F>C | No |
ClinGen Ensembl |
|
CA1478073 rs570364518 |
296 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1248444719 CA345660697 |
298 | L>S | No |
ClinGen TOPMed |
|
CA1478072 rs768006795 |
300 | P>S | No |
ClinGen ExAC gnomAD |
|
rs996793877 CA40542261 |
301 | D>H | No |
ClinGen Ensembl |
|
rs759944109 CA1478071 |
305 | P>S | No |
ClinGen ExAC gnomAD |
|
CA345660631 rs1262717759 |
308 | S>F | No |
ClinGen gnomAD |
|
CA345660629 rs1369810017 |
309 | D>N | No |
ClinGen gnomAD |
|
rs1276547618 CA345660618 |
310 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA345660607 rs1358837517 |
312 | T>A | No |
ClinGen TOPMed |
|
CA1478067 rs376230048 |
318 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1572201846 CA345660524 |
321 | E>D | No |
ClinGen Ensembl |
|
CA1478049 rs763064541 |
322 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345660512 rs1350493538 |
323 | S>I | No |
ClinGen TOPMed |
|
CA1478047 rs765416370 |
326 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1388918247 CA345660475 |
328 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs1171026927 CA345660472 |
329 | R>* | No |
ClinGen gnomAD |
|
CA1478046 rs761938100 |
329 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs868612423 CA40541553 |
334 | M>I | No |
ClinGen Ensembl |
|
rs1285975331 CA345660435 |
334 | M>T | No |
ClinGen TOPMed |
|
CA345660426 rs776954930 |
335 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345660422 rs1181998043 |
336 | E>* | No |
ClinGen TOPMed gnomAD |
|
COSM3934589 rs1181998043 COSM3934590 CA345660423 |
336 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA1478041 rs772001113 |
342 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478043 rs373266607 |
342 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1478042 rs772001113 |
342 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1230438214 CA345660356 |
346 | Q>E | No |
ClinGen gnomAD |
|
CA1478039 rs369492024 |
346 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs114051974 CA1478038 |
347 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1207358094 CA345660341 |
348 | L>F | No |
ClinGen TOPMed |
|
rs777506102 CA1478037 |
352 | E>K | No |
ClinGen ExAC gnomAD |
|
CA1478036 rs777506102 |
352 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1440917101 CA345660287 |
356 | S>G | No |
ClinGen gnomAD |
|
rs1368085320 CA345660275 |
357 | S>L | No |
ClinGen gnomAD |
|
rs967507111 CA40541514 |
361 | R>T | No |
ClinGen Ensembl |
|
rs1480140446 CA345660225 |
362 | F>Y | No |
ClinGen gnomAD |
|
CA1478014 rs750873367 |
363 | W>C | No |
ClinGen ExAC gnomAD |
|
rs1404588640 CA345660198 |
366 | V>A | No |
ClinGen TOPMed |
|
rs1189398140 CA345660200 |
366 | V>L | No |
ClinGen gnomAD |
|
rs758189548 CA1478013 |
368 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308415288 CA345660158 |
372 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA40539368 rs1018476186 |
374 | I>V | No |
ClinGen gnomAD |
|
rs1228532914 CA345660125 |
377 | V>I | No |
ClinGen gnomAD |
|
COSM1690034 CA345660092 rs1344316159 COSM1690035 |
382 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
COSM1685855 CA40539367 rs866505496 COSM1685854 |
383 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs372936482 CA1478009 |
384 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
rs1377093756 CA345660072 |
385 | W>R | No |
ClinGen gnomAD |
|
CA1478007 rs767265640 |
388 | F>L | No |
ClinGen ExAC gnomAD |
|
CA40539347 rs759422202 |
390 | A>D | No |
ClinGen ExAC gnomAD |
|
CA40539348 rs1006721270 |
390 | A>S | No |
ClinGen Ensembl |
|
CA1478006 rs759422202 |
390 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1391178312 CA345660033 |
391 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA1478003 rs762316382 |
392 | G>A | No |
ClinGen ExAC gnomAD |
|
rs772839211 CA1478002 |
395 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1261131363 CA345659946 |
403 | S>R | No |
ClinGen TOPMed |
|
rs17851953 VAR_060604 CA40539330 |
409 | Q>H | No |
ClinGen UniProt Ensembl dbSNP |
|
CA1477999 rs372505807 COSM1473677 COSM1473678 |
411 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1453698247 CA345659872 |
414 | P>A | No |
ClinGen gnomAD |
|
CA345659868 rs1388235355 |
414 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1463366057 CA345659862 |
415 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs1463366057 CA345659861 |
415 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA345659860 rs1249578912 |
416 | R>* | No |
ClinGen gnomAD |
|
CA1477997 rs746273282 |
416 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs929757263 CA40539317 |
418 | T>A | No |
ClinGen TOPMed |
|
rs1246443542 CA345659236 |
424 | E>K | No |
ClinGen TOPMed |
|
rs1203749290 CA345659058 |
436 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA40538131 rs780215301 |
437 | R>H | No |
ClinGen Ensembl |
|
COSM1157975 rs776970852 COSM1157974 CA1477974 |
439 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
COSM1502021 COSM1502022 CA345658912 rs1307354409 |
448 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1351182475 CA345658533 |
457 | S>L | No |
ClinGen gnomAD |
|
rs1391969260 CA345658552 |
457 | S>T | No |
ClinGen TOPMed |
|
rs141557672 CA345658506 |
459 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141557672 CA1477944 |
459 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1690029 COSM1690028 CA1477943 rs757243485 |
460 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA1477942 rs578115155 COSM3705692 COSM3705693 |
460 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA345658486 rs757243485 |
460 | R>S | No |
ClinGen ExAC gnomAD |
|
CA1477939 rs752344716 |
466 | K>I | No |
ClinGen ExAC gnomAD |
|
rs145387487 CA1477938 |
468 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763247206 CA1477937 |
471 | V>M | No |
ClinGen ExAC gnomAD |
|
CA345658036 rs997687821 |
475 | I>M | No |
ClinGen TOPMed |
|
rs1030502060 CA40536956 |
475 | I>V | No |
ClinGen gnomAD |
|
CA345658028 rs1260265849 |
476 | P>H | No |
ClinGen TOPMed |
|
CA40536945 rs541657079 |
478 | F>S | No |
ClinGen 1000Genomes |
|
rs1449250395 CA345657860 |
486 | P>L | No |
ClinGen gnomAD |
|
rs574315533 CA40536941 |
486 | P>S | No |
ClinGen 1000Genomes |
|
CA345657847 rs1388648765 |
487 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1005830183 CA40536937 |
488 | L>Q | No |
ClinGen gnomAD |
|
rs980366085 CA40536916 |
490 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1166689483 CA345657802 |
492 | T>I | No |
ClinGen Ensembl |
|
CA345657780 rs1294663627 |
496 | L>R | No |
ClinGen TOPMed gnomAD |
No associated diseases with P49802
Functions
7 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
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. |
neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear 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. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
4 GO annotations of molecular function
Name | Definition |
---|---|
G-protein alpha-subunit binding | Binding to a G-protein alpha subunit. The alpha subunit binds a guanine nucleotide. |
G-protein beta-subunit binding | Binding to a G-protein beta subunit. |
GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
10 GO annotations of biological process
Name | Definition |
---|---|
brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
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. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
positive regulation of potassium ion transmembrane transport | Any process that activates or increases the frequency, rate or extent of potassium ion transmembrane transport. |
regulation of G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
response to amphetamine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amphetamine stimulus. Amphetamines consist of a group of compounds related to alpha-methylphenethylamine. |
response to cold | 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 cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
response to ethanol | 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 ethanol stimulus. |
7 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O46471 | RGS16 | Regulator of G-protein signaling 16 | Bos taurus (Bovine) | PR |
Q3T0T8 | RGS5 | Regulator of G-protein signaling 5 | Bos taurus (Bovine) | PR |
O15539 | RGS5 | Regulator of G-protein signaling 5 | Homo sapiens (Human) | PR |
Q9Z2H1 | Rgs11 | Regulator of G-protein signaling 11 | Mus musculus (Mouse) | PR |
Q0QWG9 | Grid2ip | Delphilin | Mus musculus (Mouse) | PR |
O54829 | Rgs7 | Regulator of G-protein signaling 7 | Mus musculus (Mouse) | PR |
Q18312 | rgs-3 | Regulator of G-protein signaling rgs-3 | Caenorhabditis elegans | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAQGNNYGQT | SNGVADESPN | MLVYRKMEDV | IARMQDEKNG | IPIRTVKSFL | SKIPSVFSGS |
70 | 80 | 90 | 100 | 110 | 120 |
DIVQWLIKNL | TIEDPVEALH | LGTLMAAHGY | FFPISDHVLT | LKDDGTFYRF | QTPYFWPSNC |
130 | 140 | 150 | 160 | 170 | 180 |
WEPENTDYAV | YLCKRTMQNK | ARLELADYEA | ESLARLQRAF | ARKWEFIFMQ | AEAQAKVDKK |
190 | 200 | 210 | 220 | 230 | 240 |
RDKIERKILD | SQERAFWDVH | RPVPGCVNTT | EVDIKKSSRM | RNPHKTRKSV | YGLQNDIRSH |
250 | 260 | 270 | 280 | 290 | 300 |
SPTHTPTPET | KPPTEDELQQ | QIKYWQIQLD | RHRLKMSKVA | DSLLSYTEQY | LEYDPFLLPP |
310 | 320 | 330 | 340 | 350 | 360 |
DPSNPWLSDD | TTFWELEASK | EPSQQRVKRW | GFGMDEALKD | PVGREQFLKF | LESEFSSENL |
370 | 380 | 390 | 400 | 410 | 420 |
RFWLAVEDLK | KRPIKEVPSR | VQEIWQEFLA | PGAPSAINLD | SKSYDKTTQN | VKEPGRYTFE |
430 | 440 | 450 | 460 | 470 | 480 |
DAQEHIYKLM | KSDSYPRFIR | SSAYQELLQA | KKKSGNSMDR | RTSFEKFAQN | VGRNIPIFPC |
490 | |||||
HKNCTPTLRA | STNLL |