Q03113
Gene name |
GNA12 |
Protein name |
Guanine nucleotide-binding protein subunit alpha-12 |
Names |
G alpha-12 , G-protein subunit alpha-12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2768 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
211-375 (Ras-like domain) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Goricanec D et al. (2016) "Conformational dynamics of a G-protein α subunit is tightly regulated by nucleotide binding", Proceedings of the National Academy of Sciences of the United States of America, 113, E3629-38
- Coleman DE et al. (1999) "Structure of Gialpha1.GppNHp, autoinhibition in a galpha protein-substrate complex", The Journal of biological chemistry, 274, 16669-72
- Lutz S et al. (2007) "Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs", Science (New York, N.Y.), 318, 1923-7
Autoinhibited structure

Activated structure

2 structures for Q03113
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
7YDJ | EM | 303 A | PDB | ||
AF-Q03113-F1 | Predicted | AlphaFoldDB |
359 variants for Q03113
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1779097221 | 2 | S>Y | No | TOPMed | |
rs2114987464 | 3 | G>E | No | Ensembl | |
rs1779096942 | 4 | V>M | No | gnomAD | |
rs1260230928 | 7 | T>S | No | gnomAD | |
rs1472157324 | 7 | T>S | No |
TOPMed gnomAD |
|
rs1779096296 | 9 | S>G | No | Ensembl | |
rs1265709948 | 9 | S>I | No |
TOPMed gnomAD |
|
rs1779096013 | 10 | R>C | No |
TOPMed gnomAD |
|
rs2114987432 | 10 | R>L | No | Ensembl | |
rs1200233467 | 12 | L>M | No | TOPMed | |
rs2114987426 | 12 | L>R | No | Ensembl | |
TCGA novel | 14 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1476538889 | 14 | P>R | No |
TOPMed gnomAD |
|
rs1263167985 | 14 | P>S | No |
TOPMed gnomAD |
|
rs1583324621 | 16 | E>D | No | TOPMed | |
rs2114987414 | 16 | E>K | No | Ensembl | |
rs1366360746 | 17 | A>V | No |
TOPMed gnomAD |
|
rs1779094893 | 19 | G>E | No | Ensembl | |
rs1161173743 | 19 | G>R | No | TOPMed | |
rs1161173743 | 19 | G>W | No | TOPMed | |
rs2114987398 | 20 | A>G | No | Ensembl | |
rs1439912897 | 20 | A>S | No | gnomAD | |
rs2114987394 | 22 | E>* | No | Ensembl | |
rs1779094535 | 23 | R>H | No | Ensembl | |
rs1779094348 | 26 | G>D | No | Ensembl | |
rs2114987379 | 26 | G>S | No | Ensembl | |
rs1779094180 | 28 | G>C | No | TOPMed | |
rs1196500408 | 29 | A>T | No | gnomAD | |
rs1469782889 | 31 | D>N | No |
TOPMed gnomAD |
|
rs1562455202 | 32 | A>T | No | Ensembl | |
rs947233017 | 33 | E>G | No | gnomAD | |
rs1180111592 | 34 | R>C | No |
TOPMed gnomAD |
|
rs1358887041 | 35 | E>* | No | Ensembl | |
rs1290452555 | 35 | E>G | No | gnomAD | |
rs991432234 | 37 | R>G | No |
TOPMed gnomAD |
|
rs991432234 | 37 | R>W | No |
TOPMed gnomAD |
|
rs1195142459 | 42 | D>H | No | gnomAD | |
rs1195142459 | 42 | D>N | No | gnomAD | |
rs1779092620 | 43 | I>V | No | TOPMed | |
rs1779092373 | 45 | A>S | No | TOPMed | |
rs775373263 | 45 | A>V | No |
ExAC TOPMed gnomAD |
|
rs769505548 | 46 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1779092062 | 48 | A>V | No | Ensembl | |
rs1310334094 | 49 | R>C | No | gnomAD | |
rs1779091841 | 49 | R>H | No | TOPMed | |
rs1310334094 | 49 | R>S | No | gnomAD | |
rs1242547838 | 50 | E>D | No | gnomAD | |
rs757276606 | 51 | R>L | No |
ExAC gnomAD |
|
rs757276606 | 51 | R>Q | No |
ExAC gnomAD |
|
rs1374831388 | 51 | R>W | No | gnomAD | |
rs1396572923 | 52 | R>C | No | gnomAD | |
rs1465410868 | 54 | V>A | No | gnomAD | |
rs1300879649 | 54 | V>F | No | gnomAD | |
rs1417455995 | 55 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1417455995 | 55 | R>Q | No |
TOPMed gnomAD |
|
rs778979465 | 55 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1421445311 | 56 | R>C | No |
TOPMed gnomAD |
|
rs1300066969 | 56 | R>H | No | TOPMed | |
rs374498518 | 57 | L>P | No |
ESP ExAC gnomAD |
|
rs766629746 | 58 | V>M | No |
ExAC gnomAD |
|
rs756414986 | 59 | K>R | No |
ExAC gnomAD |
|
rs756414986 | 59 | K>T | No |
ExAC gnomAD |
|
rs768279667 | 60 | I>M | No | gnomAD | |
rs762390854 | 63 | L>Q | No |
ExAC gnomAD |
|
rs1779090205 | 64 | G>R | No | Ensembl | |
rs866666086 | 66 | G>D | No | Ensembl | |
rs1444967207 | 67 | E>* | No | gnomAD | |
VAR_071044 rs11552939 |
68 | S>G | No |
UniProt dbSNP gnomAD |
|
rs1309006560 | 69 | G>S | No |
TOPMed gnomAD |
|
rs1395349919 | 72 | T>K | No | gnomAD | |
rs1299756954 | 74 | L>F | No | gnomAD | |
rs1583324411 | 78 | R>S | No | Ensembl | |
COSM4834638 | 80 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs769533838 | 81 | H>Y | No |
ExAC gnomAD |
|
rs1287424694 | 82 | G>D | No | TOPMed | |
rs776555586 | 82 | G>R | No |
ExAC gnomAD |
|
rs776555586 | 82 | G>S | No |
ExAC gnomAD |
|
rs770705735 | 83 | R>C | No |
ExAC TOPMed gnomAD |
|
rs1779088555 | 83 | R>H | No | TOPMed | |
rs770705735 | 83 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1324713245 | 85 | F>L | No |
TOPMed gnomAD |
|
rs1005951200 | 86 | D>H | No |
TOPMed gnomAD |
|
rs1257817344 | 87 | Q>H | No |
TOPMed gnomAD |
|
rs1404261944 | 88 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2114987139 | 88 | K>T | No | Ensembl | |
rs1177705019 | 89 | A>E | No |
TOPMed gnomAD |
|
rs2114987135 | 89 | A>S | No | Ensembl | |
rs1177705019 | 89 | A>V | No |
TOPMed gnomAD |
|
rs778926459 | 90 | L>M | No |
ExAC gnomAD |
|
rs1779087799 | 91 | L>Q | No | Ensembl | |
rs755021382 | 91 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1358616075 | 94 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1358616075 | 94 | R>L | No | gnomAD | |
rs2114987114 | 95 | D>N | No | Ensembl | |
rs375882198 | 96 | T>I | No |
ESP TOPMed gnomAD |
|
rs375882198 | 96 | T>S | No |
ESP TOPMed gnomAD |
|
rs997016632 | 97 | I>V | No | gnomAD | |
rs148809988 | 98 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
rs781627594 | 99 | D>A | No |
ExAC TOPMed gnomAD |
|
rs1583324321 | 99 | D>E | No | TOPMed | |
rs781627594 | 99 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1779087124 | 99 | D>H | No | Ensembl | |
rs757785133 | 100 | N>S | No |
ExAC gnomAD |
|
rs1779086824 | 101 | I>V | No |
TOPMed gnomAD |
|
rs1292399463 | 102 | L>F | No | gnomAD | |
rs1310625909 | 103 | K>E | No | TOPMed | |
rs372701112 | 104 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
rs1792626538 | 105 | S>L | No | Ensembl | |
rs780830669 | 106 | R>S | No |
TOPMed gnomAD |
|
rs1562432727 | 108 | L>F | No | TOPMed | |
rs1562432727 | 108 | L>I | No | TOPMed | |
rs777583728 | 109 | V>A | No |
ExAC gnomAD |
|
COSM6027342 | 112 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754971607 | 115 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1047457263 | 116 | G>S | No |
TOPMed gnomAD |
|
rs145512130 | 121 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1291227305 | 123 | E>K | No | gnomAD | |
rs1792624703 | 125 | E>K | No | TOPMed | |
rs1792624640 | 126 | K>T | No |
TOPMed gnomAD |
|
rs751704187 | 127 | H>N | No |
ExAC gnomAD |
|
rs764422187 | 127 | H>Q | No |
ExAC gnomAD |
|
rs751704187 | 127 | H>Y | No |
ExAC gnomAD |
|
rs894208409 | 128 | G>W | No | Ensembl | |
rs1301833404 | 131 | L>M | No |
TOPMed gnomAD |
|
rs1301833404 | 131 | L>V | No |
TOPMed gnomAD |
|
rs746845598 | 134 | F>L | No |
ExAC TOPMed gnomAD |
|
rs775896855 | 134 | F>V | No |
ExAC TOPMed gnomAD |
|
COSM5552816 rs190617612 |
135 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1244997823 | 136 | N>H | No | TOPMed | |
rs879083916 | 137 | K>N | No | Ensembl | |
rs1181416866 | 138 | A>V | No | TOPMed | |
rs746569487 | 139 | G>A | No |
ExAC gnomAD |
|
rs1163400593 | 139 | G>W | No | gnomAD | |
rs12721527 | 140 | L>P | No | Ensembl | |
rs1792623038 | 141 | P>H | No | TOPMed | |
TCGA novel | 141 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195630460 COSM3637777 |
141 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1331790514 | 142 | V>A | No | gnomAD | |
rs140101989 | 142 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1210452556 | 143 | E>Q | No | gnomAD | |
rs778866783 | 144 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1212952961 | 145 | A>T | No | gnomAD | |
rs751715632 | 151 | V>F | No |
ExAC TOPMed gnomAD |
|
rs751715632 | 151 | V>I | No |
ExAC TOPMed gnomAD |
|
rs751715632 | 151 | V>L | No |
ExAC TOPMed gnomAD |
|
rs752999465 | 152 | P>A | No |
ExAC TOPMed gnomAD |
|
rs1792621771 | 152 | P>L | No |
TOPMed gnomAD |
|
rs1324531539 | 153 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs759995518 | 155 | S>N | No |
ExAC TOPMed gnomAD |
|
rs766968121 | 156 | A>S | No |
ExAC TOPMed gnomAD |
|
rs766968121 | 156 | A>T | No |
ExAC TOPMed gnomAD |
|
rs760099419 | 156 | A>V | No |
ExAC gnomAD |
|
COSM1568449 | 159 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1792620963 | 159 | R>K | No | TOPMed | |
rs1792620816 | 161 | S>A | No | TOPMed | |
COSM746284 | 163 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1792620682 | 163 | I>V | No | TOPMed | |
rs1256491972 | 164 | R>K | No |
TOPMed gnomAD |
|
rs2115457458 | 164 | R>S | No | Ensembl | |
TCGA novel | 167 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs747827635 | 168 | S>G | No |
ExAC gnomAD |
|
rs1792620284 | 168 | S>I | No | TOPMed | |
COSM1549694 rs774244411 |
169 | R>Q | lung [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1041978667 | 169 | R>W | No | TOPMed | |
rs1193799566 | 170 | R>G | No |
TOPMed gnomAD |
|
rs749152313 | 171 | S>G | No |
ExAC gnomAD |
|
rs142768832 | 171 | S>N | No |
ESP TOPMed gnomAD |
|
rs764331463 | 175 | L>P | No |
ExAC gnomAD |
|
rs1790005677 | 177 | E>Q | No | TOPMed | |
rs1790005436 | 178 | S>A | No | Ensembl | |
rs777097834 | 178 | S>L | No |
ExAC gnomAD |
|
rs771393290 | 179 | V>M | No |
ExAC gnomAD |
|
rs1169894748 | 183 | L>P | No | gnomAD | |
rs1021817793 | 185 | N>S | No | TOPMed | |
COSM297183 | 186 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs368804687 | 187 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs758894496 | 189 | I>M | No |
ExAC gnomAD |
|
rs747636303 | 190 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1455629624 | 191 | Q>H | No | gnomAD | |
rs1583205691 | 191 | Q>P | No | Ensembl | |
rs764178346 | 193 | N>H | No |
ExAC gnomAD |
|
rs759677261 | 195 | F>L | No |
ExAC gnomAD |
|
rs1276285181 | 196 | P>A | No |
TOPMed gnomAD |
|
rs1276285181 | 196 | P>S | No |
TOPMed gnomAD |
|
rs754038385 | 197 | S>G | No |
ExAC TOPMed gnomAD |
|
rs766643469 | 201 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1789907598 | 201 | I>V | No | Ensembl | |
rs772291731 | 205 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1789906652 | 206 | K>R | No | TOPMed | |
rs1789906532 | 207 | A>T | No | Ensembl | |
TCGA novel | 207 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1208353672 | 209 | K>M | No | TOPMed | |
TCGA novel | 212 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1789905663 | 216 | F>L | No | TOPMed | |
rs201475988 | 217 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1789904833 | 218 | I>V | No |
TOPMed gnomAD |
|
rs1562390540 | 220 | K>N | No | Ensembl | |
rs375880168 | 222 | P>S | No |
ESP ExAC gnomAD |
|
rs769392159 | 225 | M>L | No |
ExAC gnomAD |
|
rs769392159 | 225 | M>V | No |
ExAC gnomAD |
|
rs1430809713 | 226 | V>M | No | Ensembl | |
rs1368316981 | 227 | D>N | No |
TOPMed gnomAD |
|
rs780940374 | 228 | V>M | No |
ExAC gnomAD |
|
TCGA novel | 229 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1294969195 | 230 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs777850035 | 232 | R>Q | No |
ExAC gnomAD |
|
rs980878134 | 232 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1235372215 | 233 | S>A | No | gnomAD | |
rs1377175911 | 233 | S>C | No | gnomAD | |
TCGA novel | 233 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1789902296 | 235 | R>C | No | Ensembl | |
COSM74769 COSM4947282 |
235 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs371474667 | 237 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1431626569 | 239 | F>L | No | gnomAD | |
COSM3637769 COSM3637770 |
240 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3663127 rs1328252664 |
240 | Q>H | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs1226702362 | 240 | Q>R | No |
TOPMed gnomAD |
|
rs45606633 VAR_049359 |
242 | F>L | No |
UniProt Ensembl dbSNP |
|
rs1789901026 | 243 | D>G | No | gnomAD | |
rs756257195 | 243 | D>H | No |
ExAC TOPMed gnomAD |
|
rs756257195 | 243 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1166750331 | 244 | G>E | No | gnomAD | |
rs1242852315 | 244 | G>R | No | TOPMed | |
rs1294157750 | 245 | I>V | No | TOPMed | |
rs767837122 | 246 | T>M | No |
ExAC TOPMed gnomAD |
|
rs1583202899 | 247 | S>T | No | Ensembl | |
rs762077179 | 248 | I>V | No |
ExAC gnomAD |
|
rs774700519 | 249 | L>V | No |
ExAC gnomAD |
|
rs1261139023 | 250 | F>L | No | TOPMed | |
rs566672345 | 251 | M>I | No |
1000Genomes ExAC gnomAD |
|
rs535681947 | 251 | M>L | No |
1000Genomes ExAC gnomAD |
|
rs1239815747 | 251 | M>T | No | gnomAD | |
rs745435606 | 255 | S>G | No |
ExAC gnomAD |
|
COSM3832597 COSM3832596 |
255 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745435606 | 255 | S>R | No |
ExAC gnomAD |
|
rs999835892 | 258 | D>N | No |
TOPMed gnomAD |
|
rs1562390388 | 259 | Q>E | No | Ensembl | |
rs770685700 | 259 | Q>L | No |
ExAC gnomAD |
|
rs201962977 | 260 | V>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs201962977 | 260 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs201962977 | 260 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM1648001 rs1371708745 COSM746289 |
262 | M>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated TOPMed gnomAD NCI-TCGA Cosmic |
rs1371708745 | 262 | M>V | No |
TOPMed gnomAD |
|
rs1434085965 | 264 | D>A | No | gnomAD | |
TCGA novel | 265 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs954175741 | 266 | R>C | No | Ensembl | |
COSM3698352 rs758369709 COSM3698353 |
266 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs758369709 | 266 | R>L | No |
ExAC TOPMed gnomAD |
|
rs758369709 | 266 | R>P | No |
ExAC TOPMed gnomAD |
|
rs1329158036 | 267 | T>N | No |
TOPMed gnomAD |
|
rs746042429 COSM387723 |
268 | N>S | lung [Cosmic] | No |
cosmic curated gnomAD |
rs904215612 | 269 | R>Q | No |
TOPMed gnomAD |
|
COSM4948645 COSM1450209 |
269 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs779040599 | 271 | V>G | No |
ExAC gnomAD |
|
rs756132903 | 272 | E>G | No |
ExAC gnomAD |
|
rs767565658 | 273 | S>A | No | ExAC | |
rs767565658 | 273 | S>T | No | ExAC | |
rs1789893724 | 274 | M>T | No | gnomAD | |
COSM1088908 COSM4871445 |
275 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1562390324 | 275 | N>H | No | TOPMed | |
rs1487722362 | 277 | F>L | No | gnomAD | |
rs200282933 | 278 | E>K | No | Ensembl | |
rs751868693 | 279 | T>N | No |
ExAC gnomAD |
|
rs2115279689 | 279 | T>P | No | Ensembl | |
rs932431919 | 280 | I>V | No |
TOPMed gnomAD |
|
rs150519840 | 281 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs150519840 | 281 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758966311 | 282 | N>D | No |
ExAC gnomAD |
|
rs776211969 | 282 | N>I | No | ExAC | |
rs1789891389 | 283 | N>K | No | gnomAD | |
rs1789891499 | 283 | N>S | No | TOPMed | |
COSM4870843 rs1789891247 COSM1088907 |
284 | K>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs1789890886 | 286 | F>V | No | gnomAD | |
rs191664263 | 287 | F>Y | No |
1000Genomes ExAC |
|
rs1789890488 | 288 | N>S | No | TOPMed | |
rs771969963 | 289 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs199802606 | 290 | S>P | No | 1000Genomes | |
rs1789889974 | 291 | I>V | No | TOPMed | |
COSM1088906 COSM4869958 |
292 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs999964514 | 295 | L>V | No | TOPMed | |
rs1434842389 | 297 | K>T | No | gnomAD | |
rs745875941 | 299 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1424918885 | 305 | V>M | No |
TOPMed gnomAD |
|
rs1789888423 | 307 | T>S | No | TOPMed | |
rs1789887964 | 308 | V>A | No | Ensembl | |
rs368581021 | 308 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs778023039 | 309 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1789887596 | 311 | K>R | No | TOPMed | |
rs76478938 | 312 | K>N | No |
ExAC gnomAD |
|
TCGA novel | 312 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1789887131 | 315 | P>A | No | Ensembl | |
rs765598901 | 315 | P>L | No |
ExAC TOPMed gnomAD |
|
rs765598901 | 315 | P>R | No |
ExAC TOPMed gnomAD |
|
COSM1088905 rs1789887131 COSM4866887 |
315 | P>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs753239425 | 316 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1562390197 | 316 | D>N | No | Ensembl | |
rs753239425 | 316 | D>V | No |
ExAC TOPMed gnomAD |
|
rs141784313 | 320 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141784313 | 320 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs111264276 | 321 | P>S | No | Ensembl | |
rs761630254 | 322 | H>Q | No |
ExAC gnomAD |
|
rs1414975774 | 322 | H>R | No |
TOPMed gnomAD |
|
rs774205451 | 323 | R>K | No | ExAC | |
rs1562390153 | 323 | R>S | No | Ensembl | |
rs768426522 | 324 | L>M | No |
ExAC TOPMed gnomAD |
|
rs768426522 | 324 | L>V | No |
ExAC TOPMed gnomAD |
|
rs545924345 | 327 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1789884280 | 328 | Q>H | No | Ensembl | |
rs143607374 | 329 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs777971344 | 329 | R>H | No |
ExAC TOPMed gnomAD |
|
rs758624210 | 330 | Y>F | No |
ExAC TOPMed gnomAD |
|
rs45583847 VAR_049360 |
330 | Y>H | No |
UniProt dbSNP gnomAD |
|
rs1789882516 | 332 | V>F | No | Ensembl | |
rs1789882516 | 332 | V>I | No | Ensembl | |
rs753001643 | 333 | Q>R | No |
ExAC gnomAD |
|
rs755401911 | 336 | D>N | No |
ExAC TOPMed gnomAD |
|
rs754346065 | 337 | R>K | No |
ExAC gnomAD |
|
rs1267185998 | 338 | K>N | No | gnomAD | |
rs1264110448 | 340 | R>Q | No | gnomAD | |
rs766851973 | 340 | R>W | No |
ExAC gnomAD |
|
rs1583202314 | 341 | N>T | No | Ensembl | |
rs1336567198 | 342 | R>C | No | gnomAD | |
COSM1450208 COSM4786003 rs140322696 |
342 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs140322696 | 342 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1394982808 | 343 | S>G | No | gnomAD | |
rs111404280 | 343 | S>R | No |
1000Genomes ExAC gnomAD |
|
rs957106905 | 344 | K>E | No | Ensembl | |
rs201860352 | 345 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs773974899 | 346 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1158817269 | 348 | H>Q | No | gnomAD | |
rs1462284322 | 349 | H>N | No | gnomAD | |
rs12721528 | 350 | F>L | No | Ensembl | |
rs1583202221 | 351 | T>P | No | Ensembl | |
rs1789878855 | 352 | T>I | No | Ensembl | |
rs1190438211 | 353 | A>D | No | gnomAD | |
rs1262468448 | 353 | A>S | No | gnomAD | |
rs1262468448 | 353 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs560123937 | 355 | D>N | No |
ExAC TOPMed gnomAD |
|
rs560123937 | 355 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs904184373 | 357 | E>G | No | Ensembl | |
rs200756903 COSM1088904 COSM1698332 |
357 | E>K | Variant assessed as Somatic; MODERATE impact. skin endometrium breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs372644647 | 358 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3880434 COSM3880435 rs749682380 |
359 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs780640776 | 360 | R>C | No |
ExAC gnomAD |
|
rs1274321284 | 363 | F>L | No | gnomAD | |
rs1180278804 | 364 | H>R | No |
TOPMed gnomAD |
|
rs1789872246 | 368 | D>N | No | TOPMed | |
rs1393299603 | 369 | T>A | No | gnomAD | |
rs749900591 | 369 | T>N | No |
ExAC TOPMed gnomAD |
|
rs749900591 | 369 | T>S | No |
ExAC TOPMed gnomAD |
|
rs756865434 | 370 | I>N | No |
ExAC gnomAD |
|
rs767164073 | 370 | I>V | No |
ExAC gnomAD |
|
rs762806711 | 373 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM4162127 rs1789871200 |
376 | K>N | thyroid [Cosmic] | No |
cosmic curated Ensembl |
COSM1088903 COSM4868984 |
378 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1197066546 | 378 | I>V | No |
TOPMed gnomAD |
|
rs765754611 | 380 | L>M | No |
TOPMed gnomAD |
|
rs1264957572 | 381 | Q>H | No | gnomAD | |
COSM3832590 COSM3832591 |
382 | Q>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
No associated diseases with Q03113
8 GO annotations of cellular component
Name | Definition |
---|---|
brush border membrane | The portion of the plasma membrane surrounding the brush border. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
heterotrimeric G-protein complex | Any of a family of heterotrimeric GTP-binding and hydrolyzing proteins; they belong to a superfamily of GTPases that includes monomeric proteins such as EF-Tu and RAS. Heterotrimeric G-proteins consist of three subunits; the alpha subunit contains the guanine nucleotide binding site and possesses GTPase activity; the beta and gamma subunits are tightly associated and function as a beta-gamma heterodimer; extrinsic plasma membrane proteins (cytoplasmic face) that function as a complex to transduce signals from G protein-coupled receptors to an effector protein. |
lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
Name | Definition |
---|---|
D5 dopamine receptor binding | Binding to a D5 dopamine receptor. |
G-protein beta/gamma-subunit complex binding | Binding to a complex of G-protein beta/gamma subunits. |
GTP binding | Binding to GTP, guanosine triphosphate. |
GTPase activity | Catalysis of the reaction |
metal ion binding | Binding to a metal ion. |
protein phosphatase 2A binding | Binding to protein phosphatase 2A. |
protein phosphatase regulator activity | Binds to and modulates the activity of a protein phosphatase. |
16 GO annotations of biological process
Name | Definition |
---|---|
adenylate cyclase-modulating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP). |
blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages |
cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
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. |
in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
negative regulation of vascular associated smooth muscle cell migration | Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration. |
negative regulation of vascular associated smooth muscle cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation. |
positive regulation of phosphoprotein phosphatase activity | Any process that activates or increases the activity of a phosphoprotein phosphatase. |
regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
regulation of cell shape | Any process that modulates the surface configuration of a cell. |
regulation of fibroblast migration | Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. |
regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that modulates the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
response to xenobiotic stimulus | 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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
61 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P63097 | GNAI1 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
P0C7Q4 | GNAT3 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
P04696 | GNAT2 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
P04695 | GNAT1 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
P08239 | GNAO1 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
P50147 | GNAI2 | Guanine nucleotide-binding protein G | Gallus gallus (Chicken) | SS |
P50146 | GNAI1 | Guanine nucleotide-binding protein G | Gallus gallus (Chicken) | SS |
P20353 | Galphai | G protein alpha i subunit | Drosophila melanogaster (Fruit fly) | SS |
P16378 | Galphao | G protein alpha o subunit | Drosophila melanogaster (Fruit fly) | SS |
P25157 | cta | Guanine nucleotide-binding protein subunit alpha homolog | Drosophila melanogaster (Fruit fly) | SS |
Q14344 | GNA13 | Guanine nucleotide-binding protein subunit alpha-13 | Homo sapiens (Human) | SS |
P29992 | GNA11 | Guanine nucleotide-binding protein subunit alpha-11 | Homo sapiens (Human) | SS |
P30679 | GNA15 | Guanine nucleotide-binding protein subunit alpha-15 | Homo sapiens (Human) | SS |
O95837 | GNA14 | Guanine nucleotide-binding protein subunit alpha-14 | Homo sapiens (Human) | SS |
P50148 | GNAQ | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P38405 | GNAL | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
A8MTJ3 | GNAT3 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P19087 | GNAT2 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P11488 | GNAT1 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P04899 | GNAI2 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P08754 | GNAI3 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P19086 | GNAZ | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
P63096 | GNAI1 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | EV |
P09471 | GNAO1 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
Q9DC51 | Gnai3 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P20612 | Gnat1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P27601 | Gna13 | Guanine nucleotide-binding protein subunit alpha-13 | Mus musculus (Mouse) | SS |
Q3V3I2 | Gnat3 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
O70443 | Gnaz | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P50149 | Gnat2 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P08752 | Gnai2 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
B2RSH2 | Gnai1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P18872 | Gnao1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P27600 | Gna12 | Guanine nucleotide-binding protein subunit alpha-12 | Mus musculus (Mouse) | SS |
P93564 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Solanum tuberosum (Potato) | SS |
P19627 | Gnaz | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
P29348 | Gnat3 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
P04897 | Gnai2 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
P59215 | Gnao1 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
P08753 | Gnai3 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
Q6Q7Y5 | Gna13 | Guanine nucleotide-binding protein subunit alpha-13 | Rattus norvegicus (Rat) | SS |
Q63210 | Gna12 | Guanine nucleotide-binding protein subunit alpha-12 | Rattus norvegicus (Rat) | SS |
Q0DJ33 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Oryza sativa subsp. japonica (Rice) | SS |
O76584 | gpa-11 | Guanine nucleotide-binding protein alpha-11 subunit | Caenorhabditis elegans | SS |
P51875 | goa-1 | Guanine nucleotide-binding protein G | Caenorhabditis elegans | SS |
Q18434 | odr-3 | Guanine nucleotide-binding protein alpha-17 subunit | Caenorhabditis elegans | SS |
Q9BIG4 | gpa-10 | Guanine nucleotide-binding protein alpha-10 subunit | Caenorhabditis elegans | PR |
P28052 | gpa-3 | Guanine nucleotide-binding protein alpha-3 subunit | Caenorhabditis elegans | SS |
Q9XTB2 | gpa-13 | Guanine nucleotide-binding protein alpha-13 subunit | Caenorhabditis elegans | SS |
Q93743 | gpa-6 | Guanine nucleotide-binding protein alpha-6 subunit | Caenorhabditis elegans | SS |
Q20907 | gpa-8 | Guanine nucleotide-binding protein alpha-8 subunit | Caenorhabditis elegans | PR |
P91907 | gpa-15 | Guanine nucleotide-binding protein alpha-15 subunit | Caenorhabditis elegans | SS |
Q21917 | gpa-7 | Guanine nucleotide-binding protein alpha-7 subunit | Caenorhabditis elegans | SS |
Q9BIG5 | gpa-4 | Guanine nucleotide-binding protein alpha-4 subunit | Caenorhabditis elegans | SS |
P28051 | gpa-1 | Guanine nucleotide-binding protein alpha-1 subunit | Caenorhabditis elegans | SS |
Q9N2V6 | gpa-16 | Guanine nucleotide-binding protein alpha-16 subunit | Caenorhabditis elegans | SS |
P93163 | GPA2 | Guanine nucleotide-binding protein alpha-2 subunit | Glycine max (Soybean) (Glycine hispida) | SS |
P49084 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Glycine max (Soybean) (Glycine hispida) | SS |
O80462 | XLG1 | Extra-large guanine nucleotide-binding protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
P18064 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Arabidopsis thaliana (Mouse-ear cress) | SS |
P26981 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSGVVRTLSR | CLLPAEAGGA | RERRAGSGAR | DAEREARRRS | RDIDALLARE | RRAVRRLVKI |
70 | 80 | 90 | 100 | 110 | 120 |
LLLGAGESGK | STFLKQMRII | HGREFDQKAL | LEFRDTIFDN | ILKGSRVLVD | ARDKLGIPWQ |
130 | 140 | 150 | 160 | 170 | 180 |
YSENEKHGMF | LMAFENKAGL | PVEPATFQLY | VPALSALWRD | SGIREAFSRR | SEFQLGESVK |
190 | 200 | 210 | 220 | 230 | 240 |
YFLDNLDRIG | QLNYFPSKQD | ILLARKATKG | IVEHDFVIKK | IPFKMVDVGG | QRSQRQKWFQ |
250 | 260 | 270 | 280 | 290 | 300 |
CFDGITSILF | MVSSSEYDQV | LMEDRRTNRL | VESMNIFETI | VNNKLFFNVS | IILFLNKMDL |
310 | 320 | 330 | 340 | 350 | 360 |
LVEKVKTVSI | KKHFPDFRGD | PHRLEDVQRY | LVQCFDRKRR | NRSKPLFHHF | TTAIDTENVR |
370 | 380 | ||||
FVFHAVKDTI | LQENLKDIML | Q |