AiPD: Autoinhibited Protein Database

O95837

Gene name	GNA14
Protein name	Guanine nucleotide-binding protein subunit alpha-14
Names	G alpha-14 , G-protein subunit alpha-14
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9630
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

64-178 (α-H domain) SS

Target domain	185-349 (Ras-like domain)
Relief mechanism	Ligand binding, Partner binding
Assay

AID

64-178 (α-H domain)

Target domain

185-349 (Ras-like domain)

Relief mechanism

Ligand binding (GTP binding), Partner binding(Binding of activated GPCR)

Assay

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100

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

1 structures for O95837

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95837-F1	Predicted				AlphaFoldDB

347 variants for O95837

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002254301 CA373866813 rs1554685903 RCV000662310	205	Q>L	Kaposiform hemangioendothelioma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5094487 rs768290236	3	G>S		No	ClinGen ExAC gnomAD
rs1423667956 CA373996826	5	C>F		No	ClinGen gnomAD
CA373996816 rs1304212636	6	C>F		No	ClinGen TOPMed gnomAD
CA373996819 rs1196127662	6	C>R		No	ClinGen TOPMed gnomAD
CA373996818 rs1304212636	6	C>Y		No	ClinGen TOPMed gnomAD
CA194700659 rs925951180	7	L>P		No	ClinGen gnomAD
rs1340379811 CA373996813	7	L>V		No	ClinGen TOPMed
CA373996798 COSM1110322 rs1197170791	9	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA373996789 rs771574912 COSM1314941	10	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5094484 rs771574912	10	E>Q		No	ClinGen ExAC gnomAD
rs745814997 CA5094483	11	E>*		No	ClinGen ExAC gnomAD
rs150308184 CA5094482	12	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754882574	12	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5094479 rs749092434	13	E>V		No	ClinGen ExAC gnomAD
rs781620877 CA5094478	14	S>L		No	ClinGen ExAC gnomAD
CA373996726 rs1444309810	15	Q>H		No	ClinGen TOPMed gnomAD
CA194700657 rs947340795	15	Q>R		No	ClinGen Ensembl
CA5094477 rs751699547	16	R>H		No	ClinGen ExAC gnomAD
CA373996719 rs751699547	16	R>L		No	ClinGen ExAC gnomAD
CA5094476 rs751699547	16	R>P		No	ClinGen ExAC gnomAD
CA373996717 rs1587860780	17	I>L		No	ClinGen Ensembl
rs1465103568 CA373996695	18	S>G		No	ClinGen gnomAD
rs765705506 CA5094472 CA5094473	20	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs758450822 CA5094474	20	E>G		No	ClinGen ExAC gnomAD
CA5094471 rs370899063	21	I>M		No	ClinGen ESP ExAC gnomAD
CA5094467 rs775163253	22	E>G		No	ClinGen ExAC gnomAD
CA5094468 rs760355213	22	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5094469 rs760355213	22	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA194700656 rs998308242	23	R>*		No	ClinGen TOPMed gnomAD
CA373996660 rs998308242	23	R>G		No	ClinGen TOPMed gnomAD
CA373996656 rs771496591	24	Q>*		No	ClinGen ExAC gnomAD
rs771496591 CA5094466	24	Q>K		No	ClinGen ExAC gnomAD
rs141591381 CA373996654	24	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141591381 CA5094465	24	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1282497841 CA373996648	25	L>F		No	ClinGen gnomAD
CA373996644 COSM1314940 rs1211721086	26	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	27	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236594098 CA373996636	27	R>Q		No	ClinGen gnomAD
CA373996637 rs1308461948	27	R>W		No	ClinGen gnomAD
CA5094464 rs140078098	28	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140078098 CA373996633	28	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA373996624 rs1182659475	29	K>*		No	ClinGen TOPMed gnomAD
rs770980701 CA5094463	29	K>M		No	ClinGen ExAC gnomAD
rs770980701 CA373996623	29	K>R		No	ClinGen ExAC gnomAD
CA5094462 rs749143230	30	K>*		No	ClinGen ExAC TOPMed gnomAD
rs749143230 CA373996618	30	K>E		No	ClinGen ExAC TOPMed gnomAD
rs755932543 CA373996605	31	D>E		No	ClinGen ExAC gnomAD
rs138686336 CA5094457 RCV000891437	33	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1455672718 CA373996594	33	R>H		No	ClinGen gnomAD
rs1455672718 CA373996595	33	R>L		No	ClinGen gnomAD
CA194700655 rs1034961597	34	R>C		No	ClinGen TOPMed gnomAD
CA373996592 rs1034961597	34	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	42	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766006793 CA373996065 CA5094426	45	E>D		No	ClinGen ExAC TOPMed gnomAD
rs920146243 CA194686103	46	S>N		No	ClinGen Ensembl
rs973020914 CA194686102	47	G>E		No	ClinGen TOPMed
rs542232111 CA5094425	47	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1300241521 CA373996052	48	K>E		No	ClinGen TOPMed gnomAD
rs773285858 CA5094424	49	S>C		No	ClinGen ExAC TOPMed gnomAD
rs773285858 CA373996044	49	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5094423 rs368071625	49	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA373996034 rs1210292311	50	T>I		No	ClinGen TOPMed
rs1302454821 CA373996032	51	F>L		No	ClinGen TOPMed gnomAD
CA373996022 rs1250333791	52	I>N		No	ClinGen TOPMed
CA373996015 rs1420052968	53	K>R		No	ClinGen TOPMed
rs776462554 CA5094420	56	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1339565125 CA373995989	56	R>S		No	ClinGen gnomAD
CA373995978 rs1375603992	58	I>V		No	ClinGen TOPMed
CA5094419 rs189447649	59	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA373995961 rs1351372773	60	G>V		No	ClinGen gnomAD
CA5094417 rs779049426	62	G>D		No	ClinGen ExAC gnomAD
CA194686101 rs986513171	62	G>S		No	ClinGen TOPMed
CA5094415 rs148544176	65	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs148544176 CA373995933	65	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs756624939 CA5094413	66	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373995897 rs1564044426	70	G>R		No	ClinGen Ensembl
rs45466295 CA5094410 COSM754134	72	T>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1193961625 CA373995869	74	L>V		No	ClinGen gnomAD
CA5094408 rs751266583	75	V>A		No	ClinGen ExAC gnomAD
CA373995863 rs1587818847	75	V>F		No	ClinGen Ensembl
CA5094407 rs766062988	77	Q>*		No	ClinGen ExAC gnomAD
rs376953908 CA5094406	79	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765134278 CA5094404	79	I>T		No	ClinGen ExAC gnomAD
rs376953908 CA5094405	79	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373995829 rs1587818839	80	F>S		No	ClinGen Ensembl
CA5094403 rs75649936	81	T>A		No	ClinGen ExAC gnomAD
CA373995822 rs1350119444	81	T>I		No	ClinGen TOPMed
rs1350119444 CA373995824	81	T>N		No	ClinGen TOPMed
CA194686099 rs75649936	81	T>P		No	ClinGen ExAC gnomAD
COSM244723 rs763963650 CA5094401	82	A>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA194686097 rs896316619	82	A>V		No	ClinGen Ensembl
CA373995816 rs150204261 CA5094400	83	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373995814 rs1371717121	83	M>T		No	ClinGen gnomAD
CA373995809 rs1281462183	84	Q>*		No	ClinGen gnomAD
CA373995807 rs1281462183	84	Q>K		No	ClinGen gnomAD
rs538991057 CA5094399	85	A>P		No	ClinGen ExAC gnomAD
TCGA novel	85	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771132285 CA5094398	86	M>I		No	ClinGen ExAC gnomAD
CA373995792 rs1340124602	86	M>T		No	ClinGen gnomAD
CA5094397 rs749421916	87	I>V		No	ClinGen ExAC gnomAD
rs200412173 CA5094396 COSM1110319	89	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs769719288 CA5094395	90	M>I		No	ClinGen ExAC gnomAD
CA373995766 rs1399862957	90	M>T		No	ClinGen gnomAD
CA5094394 rs368243712	92	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1486400919 CA373995736	95	I>V		No	ClinGen gnomAD
rs200491527 CA5094391	96	Q>*		No	ClinGen ExAC gnomAD
CA373995725 rs36075165	96	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs547009911 CA5094389	98	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA5094388 rs749990865	101	Q>*		No	ClinGen ExAC gnomAD
rs150152555 CA5094387	101	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5094386 rs141730632	103	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370272788 CA5094364	104	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1462651419 CA373870109	105	N>H		No	ClinGen gnomAD
CA373870103 rs1418167588	105	N>K		No	ClinGen gnomAD
rs1009149354 CA194424065	106	A>T		No	ClinGen gnomAD
rs1187655941 CA373870086	108	I>L		No	ClinGen gnomAD
CA5094360 rs762011229	109	I>V		No	ClinGen ExAC gnomAD
CA5094359 rs776550788	110	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	111	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373870062 rs1469023612	111	E>D		No	ClinGen gnomAD
TCGA novel	111	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368027671 CA373870033	115	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA194423991 rs1029131110	116	K>R		No	ClinGen Ensembl
rs986960542 CA194423977	118	S>C		No	ClinGen TOPMed
CA373870012 rs143486617	119	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297597156 CA373870008	119	M>T		No	ClinGen TOPMed gnomAD
rs143486617 CA5094357	119	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215140692 CA373870004	120	L>I		No	ClinGen gnomAD
TCGA novel	121	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5094355 rs772571271	122	R>K		No	ClinGen ExAC gnomAD
CA5094354 rs564601928	124	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs564601928 CA373869973	124	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1295653316 CA373869942	129	K>Q		No	ClinGen TOPMed
CA194423902 rs1028412126	131	L>P		No	ClinGen TOPMed
CA5094353 rs778686184	131	L>V		No	ClinGen ExAC gnomAD
rs995975045 CA194423901	132	W>*		No	ClinGen TOPMed gnomAD
CA373869895 rs995975045	132	W>L		No	ClinGen TOPMed gnomAD
rs1456706306 CA373869900	132	W>R		No	ClinGen gnomAD
rs748873215 CA194423891	133	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs748873215 COSM754135 CA5094351	133	Q>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5094350 rs147763222	134	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5094349 rs147763222	134	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs147763222 CA373869871	134	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1587758064 CA373869861	135	P>T		No	ClinGen Ensembl
CA373869849 rs1200106738	136	G>S		No	ClinGen gnomAD
CA194423870 rs886355359	139	E>Q		No	ClinGen TOPMed
rs146907693 CA5094348	139	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373869799 rs1393840144	140	C>R		No	ClinGen gnomAD
rs781037090 CA373869776 CA373869775	141	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs150584570 CA5094346	142	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	145	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5094344 rs756089612	146	E>D		No	ClinGen ExAC gnomAD
CA373869716 rs1251900307	146	E>G		No	ClinGen gnomAD
rs1409475654 CA373869723	146	E>K		No	ClinGen TOPMed
CA5094342 rs761907887 CA373869696	147	Y>*		No	ClinGen ExAC gnomAD
CA5094343 rs765543570	147	Y>N		No	ClinGen ExAC gnomAD
rs1236188811 CA373869694	148	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373869684 rs1305840719	148	Q>H		No	ClinGen gnomAD
rs754049521 CA5094341	148	Q>L		No	ClinGen ExAC gnomAD
rs764284762 CA5094340	149	L>M		No	ClinGen ExAC TOPMed gnomAD
CA5094338 rs776205668	150	S>L		No	ClinGen ExAC gnomAD
CA373869659 rs1176121602	151	D>G		No	ClinGen gnomAD
CA373869662 rs1374152863	151	D>H		No	ClinGen gnomAD
TCGA novel	154	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774552435 CA5094335	154	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373869635 rs1251549299	155	Y>H		No	ClinGen gnomAD
CA5094313 rs772912335	157	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5094310 rs776087157	159	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5094309 rs754176053	160	I>T		No	ClinGen ExAC gnomAD
rs746940639 CA5094308	161	D>A		No	ClinGen ExAC gnomAD
CA373869047 rs1384239573	161	D>H		No	ClinGen gnomAD
CA5094306 rs758196305	162	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5094305 rs745646033	162	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1587755982 CA373869014	163	I>V		No	ClinGen Ensembl
rs201799120 CA5094303	164	A>T		No	ClinGen ExAC TOPMed gnomAD
CA373868980 rs1382330556	164	A>V		No	ClinGen gnomAD
CA373868958 rs1191020098	165	T>I		No	ClinGen gnomAD
CA194420741 rs371060420	166	P>S		No	ClinGen Ensembl
rs28395813 CA373868906	168	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1587755949 CA373868919	168	F>S		No	ClinGen Ensembl
rs752010673 CA5094299	169	V>L		No	ClinGen ExAC
COSM196891 rs752010673 CA373868903	169	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
rs1212840287 CA373868879	170	P>L		No	ClinGen gnomAD
CA194420722 rs761227446	171	T>A		No	ClinGen TOPMed gnomAD
rs139345882 CA5094298	171	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5094297 rs552995324	172	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA194420678 rs773540430	175	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5094296 rs773540430	175	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5094295 rs545966792 COSM196890	177	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs761483742 CA5094294	177	R>H		No	ClinGen ExAC gnomAD
rs761483742 CA373868736	177	R>P		No	ClinGen ExAC gnomAD
rs765970014 CA5094292	178	V>I		No	ClinGen ExAC TOPMed gnomAD
rs369522795 CA5094291	179	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396934232 CA373868675	181	P>L		No	ClinGen TOPMed gnomAD
CA5094288 rs745699154	183	T>A		No	ClinGen ExAC gnomAD
CA5094286 COSM1110317 rs770804772	184	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781412050 CA5094284	186	I>M		No	ClinGen ExAC TOPMed
CA194420570 rs142306459	186	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5094285 rs142306459	186	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375490549 CA5094283	187	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs375490549 CA194420541	187	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1452393293 CA373868602	187	E>V		No	ClinGen gnomAD
CA373868567 rs1254452077	189	P>A		No	ClinGen gnomAD
CA194420540 rs1041303258	189	P>Q		No	ClinGen TOPMed gnomAD
CA5094280 rs780471698	192	L>M		No	ClinGen ExAC gnomAD
rs765610407 CA5094277	195	I>M		No	ClinGen ExAC gnomAD
CA5094278 rs769417405	195	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5094279 rs758907366	195	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1373735299 CA373868347	198	R>Q		No	ClinGen gnomAD
CA5094275 rs753556211	198	R>W		No	ClinGen ExAC TOPMed gnomAD
rs754210942 CA5094257	199	M>L		No	ClinGen ExAC gnomAD
CA373866880 rs1312179941	200	V>L		No	ClinGen gnomAD
CA5094255 rs760407127	202	V>A		No	ClinGen ExAC gnomAD
rs1360861936 CA373866853	202	V>I		No	ClinGen gnomAD
CA5094254 rs146045963	206	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5094253 rs200863618 COSM1110316	206	R>Q	Variant assessed as Somatic; 0.0001386 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA373866796 rs1472626210	207	S>A		No	ClinGen gnomAD
CA5094252 rs759052725	207	S>L		No	ClinGen ExAC TOPMed gnomAD
CA373866797 rs1472626210	207	S>P		No	ClinGen gnomAD
CA194418243 rs954588636	208	E>G		No	ClinGen TOPMed gnomAD
rs766403431 CA5094250	209	R>G		No	ClinGen ExAC gnomAD
rs773024576 CA194418237	210	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773024576 CA5094248	210	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5094249 rs377352484	210	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs904111887 CA194418230	211	K>N		No	ClinGen TOPMed
rs769434387 CA5094247	214	H>R		No	ClinGen ExAC gnomAD
rs1564011034 CA373866681	216	F>L		No	ClinGen Ensembl
rs1291475306 CA373866672	217	E>G		No	ClinGen gnomAD
CA373866679 rs747277213	217	E>K		No	ClinGen ExAC gnomAD
rs747277213 CA5094245	217	E>Q		No	ClinGen ExAC gnomAD
rs538543694 CA5094244	218	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA194418182 rs968348509	220	T>A		No	ClinGen Ensembl
rs779445775 CA5094241	223	I>T		No	ClinGen ExAC gnomAD
rs369252604 CA194418165	224	F>L		No	ClinGen ESP TOPMed
TCGA novel	224	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373866549 rs1289251576	225	L>F		No	ClinGen TOPMed
rs746420384 RCV000785696	227	A>missing		No	ClinVar dbSNP
rs757733113 CA373866542	227	A>P		No	ClinGen ExAC
rs757733113 CA5094240	227	A>T		No	ClinGen ExAC
rs749719520 CA5094238	228	L>R		No	ClinGen ExAC
CA5094236 rs756378251	231	Y>C		No	ClinGen ExAC gnomAD
CA194418109 rs932735774	232	D>E		No	ClinGen TOPMed
rs1051641102 CA194418110	232	D>H		No	ClinGen TOPMed gnomAD
CA5094234 rs767278208	233	Q>H		No	ClinGen ExAC gnomAD
rs752403866 CA5094235	233	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5094232 rs751086989	234	V>A		No	ClinGen ExAC gnomAD
rs576471124 CA5094233	234	V>F		No	ClinGen ExAC TOPMed gnomAD
CA194418097 rs921301097	235	L>P		No	ClinGen TOPMed gnomAD
rs1318184649 CA373866369	238	C>G		No	ClinGen TOPMed
CA194418073 rs183144227	241	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5094230 rs183144227	241	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373864961 COSM1110315 rs750379315	243	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs532679687 CA5094207	243	R>H	Variant assessed as Somatic; 4.75e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750379315 CA5094208	243	R>S		No	ClinGen ExAC TOPMed gnomAD
rs753599450 CA5094205	244	M>T		No	ClinGen ExAC TOPMed gnomAD
rs142760663 CA5094206	244	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373864870 rs1297062315	246	E>D		No	ClinGen gnomAD
rs1367868576 CA373864875	246	E>G		No	ClinGen gnomAD
CA373864857 rs1311846323	247	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA373864855 rs1439458039	247	S>R		No	ClinGen gnomAD
CA373864817 rs1372921514	250	L>F		No	ClinGen gnomAD
CA373864801 rs1169859596	251	F>C		No	ClinGen gnomAD
CA5094204 rs763838371	254	I>V		No	ClinGen ExAC TOPMed
rs563609547 CA194415610	255	I>T		No	ClinGen Ensembl
CA5094203 rs759778715	257	Y>C		No	ClinGen ExAC gnomAD
CA373864663 rs1433944378	258	P>S		No	ClinGen gnomAD
TCGA novel	259	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA194415582 rs1001586126	259	W>R		No	ClinGen Ensembl
rs1175533318 CA373864618	260	F>L		No	ClinGen TOPMed gnomAD
CA373864598 rs572996758	261	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA5094200 rs762941986	261	L>P		No	ClinGen ExAC gnomAD
CA5094201 rs572996758	261	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs369919018 CA194415577	262	N>S		No	ClinGen ESP TOPMed
rs773830556 CA5094199	263	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1235175441 CA373864490	266	I>F		No	ClinGen TOPMed gnomAD
rs1235175441 CA373864491	266	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	268	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5094195 rs769089431	269	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1026965890 CA194415507 CA373864416	270	N>K		No	ClinGen TOPMed
rs994560247 CA373864402	271	K>N		No	ClinGen gnomAD
CA373864386 rs897435968	272	K>M		No	ClinGen TOPMed
rs897435968 CA194415500	272	K>T		No	ClinGen TOPMed
CA5094193 rs200526690	273	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	273	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5094192 rs556831126	274	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA194415496 rs868237297	276	E>K		No	ClinGen Ensembl
TCGA novel	277	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759233048 CA194415491	278	K>E		No	ClinGen Ensembl
rs1444399278 CA373864245	279	I>M		No	ClinGen TOPMed
CA373864251 rs1374206574	279	I>S		No	ClinGen gnomAD
rs1466917409 CA373864219	280	M>I		No	ClinGen gnomAD
rs536957030 CA5094191	280	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273219288 CA373864243	280	M>V		No	ClinGen TOPMed
rs749886105 CA373864156	282	S>C		No	ClinGen ExAC gnomAD
CA5094190 rs749886105	282	S>F		No	ClinGen ExAC gnomAD
CA373864143 rs1564010012	283	H>L		No	ClinGen Ensembl
CA5094189 rs772468318	283	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5094185 rs61755085	287	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs994858315 CA194415445	290	E>A		No	ClinGen TOPMed
CA5094182 rs751848300	291	Y>C		No	ClinGen ExAC gnomAD
CA373863889 rs1564009983	293	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5094161 COSM1735437 rs574148099	294	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1163915410 CA373862528	297	D>G		No	ClinGen gnomAD
rs1218657765 CA373862539	297	D>N		No	ClinGen gnomAD
rs1458310976 CA373862490	298	V>F		No	ClinGen gnomAD
rs368198136 CA194414326	299	R>*		No	ClinGen ESP TOPMed gnomAD
rs368198136 CA194414332	299	R>G		No	ClinGen ESP TOPMed gnomAD
CA194414325 rs928182116	299	R>K		No	ClinGen TOPMed
CA373862446 rs928182116	299	R>T		No	ClinGen TOPMed
rs764685312 CA5094158	300	A>T		No	ClinGen ExAC gnomAD
CA373862405 rs1451142317	300	A>V		No	ClinGen gnomAD
CA5094157 rs761170201	302	R>T		No	ClinGen ExAC gnomAD
rs772433312 CA5094155	306	L>P		No	ClinGen ExAC gnomAD
rs1343509848 CA373862163	309	Y>S		No	ClinGen gnomAD
CA5094154 rs150750066	312	Q>E		No	ClinGen ESP ExAC gnomAD
rs773987973 CA5094153	312	Q>H		No	ClinGen ExAC gnomAD
CA5094151 rs748785814	315	D>E		No	ClinGen ExAC TOPMed
CA5094152 rs770498591	315	D>G		No	ClinGen ExAC gnomAD
rs1273160311 CA373861946	316	K>N		No	ClinGen gnomAD
CA373861930 rs1343395112	317	E>D		No	ClinGen gnomAD
CA373861908 rs1326404379	319	V>D		No	ClinGen TOPMed
CA5094149 rs777741834	319	V>I		No	ClinGen ExAC
rs780868141 CA5094145	322	S>C		No	ClinGen ExAC gnomAD
CA5094144 rs750612459	324	F>L		No	ClinGen ExAC TOPMed gnomAD
rs750612459 CA5094143	324	F>V		No	ClinGen ExAC TOPMed gnomAD
CA373861835 rs1587750807	324	F>Y		No	ClinGen Ensembl
rs138665816 CA5094142	326	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5094141 rs757469680	326	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs753944394 CA5094140	327	A>T		No	ClinGen ExAC gnomAD
rs764229772 CA5094139	328	T>A		No	ClinGen ExAC gnomAD
CA5094138 rs761287064	328	T>I		No	ClinGen ExAC gnomAD
rs1248114943 CA373861783	332	N>S		No	ClinGen gnomAD
CA5094136 COSM142294 rs776009606	334	R>C	Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5094135 rs767780053	334	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373861770 rs767780053	334	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1564009477 CA373861759	336	V>L		No	ClinGen Ensembl
TCGA novel	337	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207849872 CA373861745	338	A>P		No	ClinGen gnomAD
CA373861734 rs1443483681	340	V>I		No	ClinGen TOPMed
rs757128605 CA194414220	344	I>L		No	ClinGen Ensembl
CA5094130 rs748840968	348	N>K		No	ClinGen ExAC gnomAD
rs1309951429 CA373861667	350	R>K		No	ClinGen TOPMed gnomAD
rs1309951429 CA373861668	350	R>T		No	ClinGen TOPMed gnomAD
CA5094127 rs375737357	351	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA373861639 rs1371117942	354	L>V		No	ClinGen gnomAD
rs1333202337 CA373861630	355	V>A		No	ClinGen gnomAD

No associated diseases with O95837

No regional properties for O95837

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O95837

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

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.

4 GO annotations of biological process

Name	Definition
action potential	A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities.
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).
phospholipase C-activating dopamine receptor signaling pathway	A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
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.

29 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38408	GNA14	Guanine nucleotide-binding protein subunit alpha-14	Bos taurus (Bovine)	PR
P23625	Galphaq	G protein alpha q subunit	Drosophila melanogaster (Fruit fly)	PR
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
P50148	GNAQ	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P11488	GNAT1	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19087	GNAT2	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P08754	GNAI3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
A8MTJ3	GNAT3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19086	GNAZ	Guanine nucleotide-binding protein G	Homo sapiens (Human)	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
P38405	GNAL	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P04899	GNAI2	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
P21279	Gnaq	Guanine nucleotide-binding protein G(q) subunit alpha	Mus musculus (Mouse)	PR
P30678	Gna15	Guanine nucleotide-binding protein subunit alpha-15	Mus musculus (Mouse)	PR
Q2PKF4	GNAQ	Guanine nucleotide-binding protein G(q) subunit alpha	Sus scrofa (Pig)	PR
P93564	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Solanum tuberosum (Potato)	SS
O88302	Gna15	Guanine nucleotide-binding protein subunit alpha-15	Rattus norvegicus (Rat)	SS
Q9JID2	Gna11	Guanine nucleotide-binding protein subunit alpha-11	Rattus norvegicus (Rat)	SS
P82471	Gnaq	Guanine nucleotide-binding protein G	Rattus norvegicus (Rat)	SS
Q0DJ33	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Oryza sativa subsp. japonica (Rice)	SS
P49084	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Glycine max (Soybean) (Glycine hispida)	SS
P93163	GPA2	Guanine nucleotide-binding protein alpha-2 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
MAGCCCLSAE	EKESQRISAE	IERQLRRDKK	DARRELKLLL	LGTGESGKST	FIKQMRIIHG
70	80	90	100	110	120
SGYSDEDRKG	FTKLVYQNIF	TAMQAMIRAM	DTLRIQYVCE	QNKENAQIIR	EVEVDKVSML
130	140	150	160	170	180
SREQVEAIKQ	LWQDPGIQEC	YDRRREYQLS	DSAKYYLTDI	DRIATPSFVP	TQQDVLRVRV
190	200	210	220	230	240
PTTGIIEYPF	DLENIIFRMV	DVGGQRSERR	KWIHCFESVT	SIIFLVALSE	YDQVLAECDN
250	260	270	280	290	300
ENRMEESKAL	FKTIITYPWF	LNSSVILFLN	KKDLLEEKIM	YSHLISYFPE	YTGPKQDVRA
310	320	330	340	350
ARDFILKLYQ	DQNPDKEKVI	YSHFTCATDT	DNIRFVFAAV	KDTILQLNLR	EFNLV