P04899
Gene name |
GNAI2 (GNAI2B) |
Protein name |
Guanine nucleotide-binding protein G |
Names |
i subunit alpha-2 , Adenylate cyclase-inhibiting G alpha protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2771 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
185-349 (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

16 structures for P04899
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
6D9H | EM | 360 A | A | 1-355 | PDB |
7F8V | EM | 330 A | A | 1-355 | PDB |
7LD3 | EM | 320 A | A | 1-355 | PDB |
7LD4 | EM | 330 A | A | 1-355 | PDB |
7WV9 | EM | 336 A | A | 1-355 | PDB |
7WVV | EM | 290 A | A | 1-355 | PDB |
7WVW | EM | 310 A | A | 1-355 | PDB |
7WVX | EM | 280 A | A | 1-355 | PDB |
7WVY | EM | 300 A | A | 1-355 | PDB |
7XXI | EM | 300 A | B | 1-355 | PDB |
7YJ4 | EM | 319 A | I | 1-355 | PDB |
7YK6 | EM | 303 A | I | 1-355 | PDB |
7YK7 | EM | 275 A | I | 1-355 | PDB |
8THK | EM | 260 A | A | 1-57 | PDB |
8THL | EM | 310 A | A | 1-57 | PDB |
AF-P04899-F1 | Predicted | AlphaFoldDB |
236 variants for P04899
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs112497464 RCV003482158 RCV000998078 |
101 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
COSM2851112 RCV001580029 RCV000017250 rs137853226 COSM3595541 CA126033 RCV000017251 RCV000017252 |
179 | R>C | Adrenocortical tumor, somatic Ovarian granulosa cell tumor Variant assessed as Somatic; MODERATE impact. Thecoma, somatic [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
RCV000017256 CA126037 rs137853226 |
179 | R>G | Pituitary dependent hypercortisolism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
COSM158737 rs137853227 RCV000017254 RCV000017253 COSM4777477 RCV000017255 CA126035 |
179 | R>H | Adrenocortical tumor, somatic Ovarian granulosa cell tumor Variant assessed as Somatic; MODERATE impact. skin Thecoma, somatic haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
rs137853228 RCV000017257 CA126039 |
200 | F>L | Variant assessed as Somatic; MODERATE impact. Ventricular tachycardia, somatic [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
rs782028165 | 4 | T>P | No |
ExAC gnomAD |
|
rs1032999153 | 5 | V>G | No |
TOPMed gnomAD |
|
rs143760938 | 5 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1553700364 | 9 | D>E | No |
TOPMed gnomAD |
|
rs782092831 | 14 | E>K | No |
ExAC gnomAD |
|
rs1553700375 | 15 | R>L | No | gnomAD | |
rs782736244 | 16 | S>C | No |
ExAC gnomAD |
|
rs781878883 | 18 | M>K | No |
ExAC TOPMed gnomAD |
|
rs781878883 | 18 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1553700385 | 21 | K>Q | No | gnomAD | |
rs1455823207 | 21 | K>R | No |
TOPMed gnomAD |
|
rs587618141 | 25 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1700169960 | 25 | E>V | No | gnomAD | |
rs1479813405 | 26 | D>E | No |
TOPMed gnomAD |
|
rs1553700389 | 26 | D>G | No | gnomAD | |
COSM4909715 | 27 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2109180133 | 28 | E>G | No | Ensembl | |
rs1553700394 | 29 | K>R | No | gnomAD | |
rs781887853 | 30 | A>T | No |
ExAC gnomAD |
|
rs2109180157 | 32 | R>G | No | Ensembl | |
rs1575438041 | 34 | V>G | No | Ensembl | |
COSM446748 | 37 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs782454435 | 39 | L>* | No |
ExAC gnomAD |
|
rs1167150454 | 42 | G>R | No |
TOPMed gnomAD |
|
rs17851218 | 42 | G>V | No | Ensembl | |
TCGA novel | 48 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1553702541 | 49 | I>F | No |
TOPMed gnomAD |
|
rs1553702541 | 49 | I>V | No |
TOPMed gnomAD |
|
rs1191422423 | 50 | V>I | No | TOPMed | |
TCGA novel | 51 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1379287445 | 58 | E>K | No | TOPMed | |
rs894855349 | 63 | E>K | No |
TOPMed gnomAD |
|
rs781986131 | 67 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs782461705 | 67 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1575452033 | 69 | Y>S | No | Ensembl | |
rs782573516 COSM3714649 |
70 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1553702624 | 70 | R>W | No | gnomAD | |
rs138213627 | 71 | A>E | No |
ESP ExAC gnomAD |
|
rs1254780993 | 71 | A>S | No |
TOPMed gnomAD |
|
COSM4118724 rs138213627 COSM4118725 |
71 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
rs1482595076 | 73 | V>I | No |
TOPMed gnomAD |
|
rs1235524958 | 75 | S>N | No | TOPMed | |
rs782413773 | 81 | I>V | No |
ExAC gnomAD |
|
COSM4393399 COSM4393400 |
82 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs782584118 | 82 | M>R | No |
ExAC gnomAD |
|
rs1353405251 | 82 | M>V | No |
TOPMed gnomAD |
|
rs1307372138 | 84 | I>T | No | TOPMed | |
rs1553702637 | 85 | V>G | No | gnomAD | |
rs782177777 | 85 | V>I | No |
ExAC gnomAD |
|
rs1242505599 | 88 | M>T | No |
TOPMed gnomAD |
|
rs782355546 | 89 | G>D | No |
ExAC TOPMed gnomAD |
|
rs782355546 | 89 | G>V | No |
ExAC TOPMed gnomAD |
|
rs781943267 | 93 | I>L | No |
ExAC gnomAD |
|
COSM1046441 rs183955200 |
94 | D>N | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs183955200 | 94 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1700585480 | 96 | A>S | No | Ensembl | |
rs1575452160 | 97 | D>A | No | Ensembl | |
COSM5179096 COSM1424134 rs782148570 |
97 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM1485328 COSM5219999 |
98 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1553702652 | 100 | R>G | No | gnomAD | |
rs149596343 | 101 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs781957608 | 104 | A>T | No |
ExAC TOPMed gnomAD |
|
rs587760919 | 105 | R>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1700603546 | 106 | Q>L | No | Ensembl | |
rs1700603706 | 108 | F>S | No | gnomAD | |
rs1356516303 | 113 | T>A | No | Ensembl | |
rs1356516303 | 113 | T>P | No | Ensembl | |
rs368004918 COSM74770 |
114 | A>T | ovary Variant assessed as Somatic; MODERATE impact. prostate [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1347229421 | 115 | E>K | No |
TOPMed gnomAD |
|
rs1575452927 | 116 | E>A | No | Ensembl | |
rs1700604552 | 117 | Q>H | No | Ensembl | |
rs782771987 | 117 | Q>K | No |
ExAC gnomAD |
|
rs371969824 | 118 | G>D | No |
ESP TOPMed |
|
rs150943193 | 119 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM4325261 rs150943193 COSM2851109 |
119 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs587693557 | 120 | L>F | No |
1000Genomes ExAC gnomAD |
|
rs1700605105 | 121 | P>L | No | Ensembl | |
rs782675157 | 125 | S>F | No |
ExAC gnomAD |
|
rs782437262 | 126 | G>C | No |
ExAC TOPMed gnomAD |
|
rs782437262 | 126 | G>S | No |
ExAC TOPMed gnomAD |
|
rs140764270 | 126 | G>V | No |
ESP TOPMed gnomAD |
|
rs200441316 | 127 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs782279425 | 129 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs180852414 | 129 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1553702777 | 133 | A>G | No | gnomAD | |
rs1553702774 | 133 | A>T | No |
TOPMed gnomAD |
|
rs1553702777 | 133 | A>V | No | gnomAD | |
rs1233345395 | 135 | H>N | No | Ensembl | |
rs782095749 | 135 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs770199226 | 135 | H>R | No | Ensembl | |
rs781998943 | 136 | G>D | No |
ExAC TOPMed gnomAD |
|
rs1700606927 | 137 | V>L | No | TOPMed | |
COSM1046443 | 138 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs782110519 | 139 | A>D | No |
ExAC gnomAD |
|
rs1700607076 | 139 | A>T | No | TOPMed | |
rs1700607321 | 141 | F>C | No |
TOPMed gnomAD |
|
TCGA novel | 142 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs782805532 | 143 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs868958535 COSM3595536 COSM252524 |
143 | R>H | kidney ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1289672060 | 145 | R>M | No | TOPMed | |
rs2109212438 | 146 | E>* | No | Ensembl | |
COSM217277 rs1700608213 |
155 | Y>H | liver [Cosmic] | No |
cosmic curated Ensembl |
rs1700697762 | 156 | Y>N | No | Ensembl | |
rs1575456229 | 157 | L>P | No | Ensembl | |
rs1575456229 | 157 | L>Q | No | Ensembl | |
rs199645073 | 158 | N>K | No |
ExAC TOPMed gnomAD |
|
rs781807470 | 159 | D>H | No |
ExAC gnomAD |
|
COSM4820641 rs781807470 COSM4820642 |
159 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1575456266 | 160 | L>P | No | Ensembl | |
rs1575456266 | 160 | L>Q | No | Ensembl | |
rs1279972413 | 161 | E>A | No | gnomAD | |
rs1279972413 | 161 | E>G | No | gnomAD | |
rs1700699106 | 161 | E>K | No | gnomAD | |
rs1553703151 | 162 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs782616803 | 163 | I>V | No |
ExAC gnomAD |
|
rs1553703152 | 164 | A>T | No | gnomAD | |
rs1700699721 | 165 | Q>H | No | Ensembl | |
rs781821436 | 166 | S>N | No |
ExAC gnomAD |
|
rs782514765 | 166 | S>R | No |
ExAC gnomAD |
|
rs782618510 | 169 | I>L | No |
ExAC gnomAD |
|
rs1700700212 | 169 | I>T | No |
TOPMed gnomAD |
|
rs782618510 | 169 | I>V | No |
ExAC gnomAD |
|
COSM1046445 | 171 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1270468066 | 172 | Q>E | No | gnomAD | |
rs1229367007 | 173 | Q>H | No | Ensembl | |
rs782599019 COSM3660625 COSM1617793 |
177 | R>Q | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs782396665 | 177 | R>W | No |
ExAC TOPMed gnomAD |
|
rs782366732 | 180 | V>I | No |
ExAC TOPMed gnomAD |
|
COSM3357721 COSM3357722 |
182 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM239983 | 186 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1700701776 | 188 | T>K | No | gnomAD | |
rs951992375 | 191 | T>P | No |
TOPMed gnomAD |
|
rs797039274 | 196 | H>Q | No |
TOPMed gnomAD |
|
rs984808431 | 198 | K>R | No | Ensembl | |
rs1553703234 | 202 | V>M | No | gnomAD | |
rs1553703235 | 203 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs868983712 | 205 | Q>R | No | Ensembl | |
rs1553703242 | 206 | R>Q | No | gnomAD | |
COSM3427718 COSM3427719 |
210 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2109219967 | 215 | C>F | No | Ensembl | |
rs1553703248 | 218 | G>C | No | gnomAD | |
rs782631757 COSM4118726 COSM4118727 |
219 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1350695889 | 223 | I>L | No |
TOPMed gnomAD |
|
rs1350695889 | 223 | I>V | No |
TOPMed gnomAD |
|
rs1700713660 | 226 | V>A | No | TOPMed | |
rs376430681 | 226 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 226 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1553703273 | 227 | A>S | No | gnomAD | |
rs1178796382 | 228 | L>F | No | TOPMed | |
COSM480248 | 232 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1180429014 | 234 | V>M | No |
TOPMed gnomAD |
|
TCGA novel | 237 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs760792214 | 239 | E>K | No |
ExAC gnomAD |
|
COSM3993171 COSM3993170 |
240 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1046448 | 242 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs12721535 | 243 | R>C | No |
TOPMed gnomAD |
|
TCGA novel | 244 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs782454651 | 248 | M>I | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 257 | N>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1700717821 | 263 | T>R | No | TOPMed | |
rs1184256751 | 265 | I>V | No |
TOPMed gnomAD |
|
rs1553703326 | 270 | N>S | No | gnomAD | |
rs2109220512 | 271 | K>R | No | Ensembl | |
TCGA novel | 272 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 273 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs781895740 | 277 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1464427483 | 277 | E>K | No |
TOPMed gnomAD |
|
rs1553703329 | 280 | T>A | No | gnomAD | |
rs1553703333 | 281 | H>L | No |
TOPMed gnomAD |
|
rs1575457343 | 281 | H>Q | No | Ensembl | |
rs1553703333 | 281 | H>R | No |
TOPMed gnomAD |
|
rs1553703334 | 282 | S>N | No | gnomAD | |
rs782530894 | 283 | P>H | No |
ExAC TOPMed gnomAD |
|
rs1575457358 | 283 | P>S | No | Ensembl | |
TCGA novel | 287 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs782598191 | 288 | F>L | No |
ExAC gnomAD |
|
rs1553703340 | 289 | P>L | No | gnomAD | |
rs782266413 | 290 | E>G | No |
ExAC gnomAD |
|
rs1700719658 | 290 | E>K | No | Ensembl | |
rs782419644 | 294 | A>D | No |
ExAC TOPMed gnomAD |
|
rs1553703420 | 294 | A>S | No | gnomAD | |
rs782419644 | 294 | A>V | No |
ExAC TOPMed gnomAD |
|
rs587647183 | 295 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs953606864 | 295 | N>S | No | gnomAD | |
rs781997515 | 296 | K>R | No |
ExAC gnomAD |
|
rs1700730943 | 298 | D>H | No | Ensembl | |
rs1553703427 | 298 | D>V | No | gnomAD | |
rs1326240157 | 299 | E>D | No |
TOPMed gnomAD |
|
rs1553703429 | 303 | Y>H | No | gnomAD | |
rs1228115057 | 306 | S>N | No |
TOPMed gnomAD |
|
rs1264193601 | 306 | S>R | No | TOPMed | |
rs1553703434 | 309 | E>* | No | gnomAD | |
rs1553703434 | 309 | E>K | No | gnomAD | |
rs1327376805 | 311 | L>M | No | gnomAD | |
rs1443034047 | 312 | N>D | No | gnomAD | |
rs1340003741 | 312 | N>I | No | gnomAD | |
rs1443034047 | 312 | N>Y | No | gnomAD | |
rs1553703445 | 313 | K>E | No | gnomAD | |
rs1553703445 | 313 | K>Q | No | gnomAD | |
rs1553703449 | 313 | K>T | No | Ensembl | |
rs782010728 | 314 | R>G | No |
ExAC gnomAD |
|
rs782056335 | 314 | R>H | No |
ExAC TOPMed |
|
rs782056335 | 314 | R>L | No |
ExAC TOPMed |
|
rs782010728 | 314 | R>S | No |
ExAC gnomAD |
|
rs1553703459 | 315 | K>T | No | gnomAD | |
rs1575458074 | 316 | D>A | No | Ensembl | |
rs2109221855 | 316 | D>E | No | Ensembl | |
TCGA novel | 316 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs372568318 | 317 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2109221883 | 318 | K>E | No | Ensembl | |
rs1158178150 | 318 | K>N | No | gnomAD | |
rs1406706731 | 318 | K>T | No | gnomAD | |
rs1553703476 | 319 | E>D | No | gnomAD | |
rs781962379 | 322 | T>M | No |
ExAC TOPMed gnomAD |
|
rs781962379 | 322 | T>R | No |
ExAC TOPMed gnomAD |
|
rs1700734570 | 323 | H>D | No | TOPMed | |
rs782786744 COSM1046450 |
327 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 328 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1553703484 | 329 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs782434967 | 330 | T>S | No |
ExAC gnomAD |
|
rs782260219 | 332 | N>K | No |
ExAC TOPMed gnomAD |
|
rs139567497 TCGA novel |
333 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD NCI-TCGA |
rs139567497 | 333 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1553703488 | 336 | V>M | No | gnomAD | |
rs1463068079 | 339 | A>T | No |
TOPMed gnomAD |
|
COSM4754968 rs781914264 COSM4754967 |
340 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs782222906 | 341 | T>S | No |
ExAC TOPMed gnomAD |
|
rs782009589 | 342 | D>Y | No |
ExAC gnomAD |
|
rs1553703500 | 345 | I>T | No | gnomAD | |
rs782819582 | 347 | N>S | No |
ExAC gnomAD |
|
COSM1424138 COSM5129697 |
352 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
No associated diseases with P04899
6 regional properties for P04899
Type | Name | Position | InterPro Accession |
---|---|---|---|
conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 169 - 177 | IPR000629 |
domain | Helicase, C-terminal | 253 - 402 | IPR001650 |
domain | DEAD/DEAH box helicase domain | 33 - 212 | IPR011545 |
domain | Helicase superfamily 1/2, ATP-binding domain | 28 - 245 | IPR014001 |
domain | RNA helicase, DEAD-box type, Q motif | 9 - 37 | IPR014014 |
domain | Domain of unknown function DUF4217 | 402 - 465 | IPR025313 |
Functions
14 GO annotations of cellular component
Name | Definition |
---|---|
cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
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. |
dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
extracellular vesicle | Any vesicle that is part of the extracellular region. |
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. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
neuronal dense core vesicle | A dense core vesicle (granule) that is part of a neuron. These vesicles typically contain neuropeptides. They can be found in all parts of neurons, including the soma, dendrites, axonal swellings (varicosities) and synaptic terminals. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
5 GO annotations of molecular function
Name | Definition |
---|---|
G protein-coupled receptor binding | Binding to a G protein-coupled 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. |
25 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). |
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP). |
cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
G protein-coupled acetylcholine receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription. |
G protein-coupled adenosine receptor signaling pathway | The series of molecular signals generated as a consequence of a receptor binding to extracellular adenosine and transmitting the signal to a heterotrimeric G-protein complex to initiate a change in cell activity. |
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. |
gamma-aminobutyric acid signaling pathway | The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to its receptor on the surface of a target cell. |
negative regulation of adenylate cyclase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of adenylate cyclase activity. |
negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process | Any process that stops, prevents or reduces the frequency, rate or extent of an adenylate cyclase-activating adrenergic receptor signaling pathway involved in some heart process. |
negative regulation of apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. |
negative regulation of calcium ion-dependent exocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of calcium ion-dependent exocytosis. |
negative regulation of synaptic transmission | Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
positive regulation of insulin receptor signaling pathway | Any process that increases the frequency, rate or extent of insulin receptor signaling. |
positive regulation of neural precursor cell proliferation | Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation. |
positive regulation of superoxide anion generation | Any process that activates or increases the frequency, rate or extent of enzymatic generation of superoxide by a cell. |
positive regulation of urine volume | Any process that increases the amount of urine excreted from the body over a unit of time. |
positive regulation of vascular associated smooth muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. |
regulation of calcium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
response to nutrient | 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 nutrient stimulus. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
62 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 |
P50146 | GNAI1 | Guanine nucleotide-binding protein G | Gallus gallus (Chicken) | SS |
P50147 | GNAI2 | Guanine nucleotide-binding protein G | Gallus gallus (Chicken) | SS |
P38400 | GNAI2 | Guanine nucleotide-binding protein G(i) subunit alpha-2 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
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 |
P20353 | Galphai | G protein alpha i subunit | Drosophila melanogaster (Fruit fly) | SS |
Q14344 | GNA13 | Guanine nucleotide-binding protein subunit alpha-13 | Homo sapiens (Human) | SS |
Q03113 | GNA12 | Guanine nucleotide-binding protein subunit alpha-12 | 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 |
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 |
P27600 | Gna12 | Guanine nucleotide-binding protein subunit alpha-12 | 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 |
B2RSH2 | Gnai1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P18872 | Gnao1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P08752 | Gnai2 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
P93564 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Solanum tuberosum (Potato) | SS |
Q63210 | Gna12 | Guanine nucleotide-binding protein subunit alpha-12 | Rattus norvegicus (Rat) | SS |
P19627 | Gnaz | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
P29348 | Gnat3 | 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 |
P04897 | Gnai2 | Guanine nucleotide-binding protein G | 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 |
MGCTVSAEDK | AAAERSKMID | KNLREDGEKA | AREVKLLLLG | AGESGKSTIV | KQMKIIHEDG |
70 | 80 | 90 | 100 | 110 | 120 |
YSEEECRQYR | AVVYSNTIQS | IMAIVKAMGN | LQIDFADPSR | ADDARQLFAL | SCTAEEQGVL |
130 | 140 | 150 | 160 | 170 | 180 |
PDDLSGVIRR | LWADHGVQAC | FGRSREYQLN | DSAAYYLNDL | ERIAQSDYIP | TQQDVLRTRV |
190 | 200 | 210 | 220 | 230 | 240 |
KTTGIVETHF | TFKDLHFKMF | DVGGQRSERK | KWIHCFEGVT | AIIFCVALSA | YDLVLAEDEE |
250 | 260 | 270 | 280 | 290 | 300 |
MNRMHESMKL | FDSICNNKWF | TDTSIILFLN | KKDLFEEKIT | HSPLTICFPE | YTGANKYDEA |
310 | 320 | 330 | 340 | 350 | |
ASYIQSKFED | LNKRKDTKEI | YTHFTCATDT | KNVQFVFDAV | TDVIIKNNLK | DCGLF |