AiPD: Autoinhibited Protein Database

P19087

Gene name	GNAT2 (GNATC)
Protein name	Guanine nucleotide-binding protein G
Names	t subunit alpha-2 , Transducin alpha-2 chain
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2780
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

62-177 (α-H domain) SS

Target domain	184-348 (Ras-like domain)
Relief mechanism	Ligand binding, Partner binding
Assay

AID

62-177 (α-H domain)

Target domain

184-348 (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

3 structures for P19087

Entry ID	Method	Resolution	Chain	Position	Source
6N84	X-ray	175 A	A	331-354	PDB
6N85	X-ray	250 A	M	331-354	PDB
AF-P19087-F1	Predicted				AlphaFoldDB

288 variants for P19087

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001034183 CA992538 rs199503029 RCV000341201	5	A>V	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003117547 CA341543182 rs1240543072 RCV000761394	36	L>R	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000761395 CA992510 rs146606352	47	S>G	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs121434585 CA257403 RCV001386994 RCV000017273	79	Q>*	Achromatopsia 4 (achm4) Achromatopsia 4 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001323777 CA992488 RCV001096139 rs200316722	81	I>M	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA992481 rs140250745 RCV000994064 RCV000380667	86	R>Q	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000761396 rs1557920291	96	A>missing	Achromatopsia 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000761399 COSM3376640 rs1403825722 CA341540851	105	R>*	Variant assessed as Somatic; 0.0 impact. pancreas Achromatopsia 4 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV001522255 rs3738766 RCV000323659 CA992451 RCV000246342 VAR_047623	107	L>I	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_047624 CA202776 RCV000950060 RCV000178239 RCV000377080 rs41280330	124	V>M	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002519368 RCV000329377 CA992430 RCV001068275 rs149421007	143	A>T	Inborn genetic diseases Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA992406 rs745308973 RCV000625933 RCV002272306	161	R>*	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1557918911 RCV000761400	169	P>*	Achromatopsia 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000761402 CA341537706 rs1557918635	198	M>K	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001002705 rs1570562309 CA341537582	202	G>E	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001199818 RCV000761403 rs1557918619 CA341537446	207	E>V	Cone dystrophy Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001855940 RCV000761404 rs995152260 CA28676155	208	R>T	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001345429 rs140788789 RCV001101564 CA992343	239	E>K	Variant assessed as Somatic; 0.0 impact. Achromatopsia 4 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000761406 RCV001855941 CA992324 rs754414120	242	R>C	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1557917899 RCV000761407	270	K>missing	Achromatopsia 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000761408 RCV001304769 rs1268228697	271	K>missing	Achromatopsia 4 [ClinVar]	Yes	ClinVar dbSNP
rs368906691 RCV002561758 CA992308 RCV001211407	273	L>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs779967692 CA992304 RCV001101563 RCV002556043	282	H>P	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA992278 RCV003117548 rs757147586 RCV000761409 RCV001199819	296	Y>H	Cone dystrophy Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001479580 rs200883344 CA992267 RCV000277674	310	L>F	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA992265 rs748981899 RCV000761410	313	R>*	Variant assessed as Somatic; 0.0 impact. Achromatopsia 4 (achm4) Achromatopsia 4 [NCI-TCGA, Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs950519744 CA341532326 RCV000761411	315	D>N	Achromatopsia 4 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1557917535 RCV000761412	319	I>missing	Achromatopsia 4 [ClinVar]	Yes	ClinVar dbSNP
rs762637247 CA992541	2	G>R		No	ClinGen ExAC gnomAD
rs752278435 CA992539	3	S>T		No	ClinGen ExAC gnomAD
rs1243191534 RCV001344814	7	A>S		No	ClinVar dbSNP
rs1243191534 CA341543710	7	A>T		No	ClinGen TOPMed
rs1239300204 CA341543656	8	E>D		No	ClinGen gnomAD
rs1483240641 CA341543627	10	K>E		No	ClinGen TOPMed
CA28682627 rs1045338055	10	K>R		No	ClinGen Ensembl
rs759055694 CA992537 COSM893550	11	E>*	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA992536 rs776479555	13	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1257418304 CA341543576	13	A>T		No	ClinGen TOPMed gnomAD
rs1301191172 CA341543525	15	R>G		No	ClinGen gnomAD
CA341543523 rs1467609475	15	R>K		No	ClinGen gnomAD
rs1359776613 CA341543495	16	S>Y		No	ClinGen gnomAD
CA992534 rs760450896	17	K>N		No	ClinGen ExAC TOPMed gnomAD
CA992533 rs772922679	18	E>K		No	ClinGen ExAC gnomAD
CA341543462 rs1439939686	19	L>P		No	ClinGen gnomAD
rs1158649430 CA341543451	21	K>E		No	ClinGen TOPMed
rs772291136 CA992532 RCV001051118	21	K>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1483970857 CA341543391	24	Q>*		No	ClinGen gnomAD
TCGA novel	25	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748317500 CA341543336	26	D>A		No	ClinGen ExAC TOPMed gnomAD
CA992531 rs748317500	26	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1215887079 CA341543315	27	A>V		No	ClinGen gnomAD
CA28682614 rs1043733773	28	D>H		No	ClinGen TOPMed gnomAD
CA341543314 rs1043733773	28	D>N		No	ClinGen TOPMed gnomAD
rs1570566647 CA341543283	30	E>K		No	ClinGen Ensembl
RCV001055565 CA341543208 rs1287913823	34	V>A		No	ClinGen ClinVar dbSNP gnomAD
CA341543186 rs1240543072	36	L>Q		No	ClinGen TOPMed gnomAD
CA992529 rs749377354	40	G>C		No	ClinGen ExAC TOPMed gnomAD
rs749377354 CA992528	40	G>S		No	ClinGen ExAC TOPMed gnomAD
CA341542916 rs1158203282	42	G>R		No	ClinGen TOPMed
rs1304837072 CA341542901	43	E>K		No	ClinGen gnomAD
rs1459132092 CA341542881	44	S>P		No	ClinGen gnomAD
CA341542843 rs1343432825	46	K>R		No	ClinGen TOPMed
rs982782821 CA28681864	47	S>R		No	ClinGen TOPMed gnomAD
rs200725841 CA28681863	48	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA28681859 rs201659866	49	I>V		No	ClinGen 1000Genomes
rs749334089 RCV001243554 CA992509	50	V>I	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1265008353 CA341542771	51	K>R		No	ClinGen gnomAD
CA992508 rs775584517	52	Q>*		No	ClinGen ExAC gnomAD
CA341542745 rs1473495219	52	Q>H		No	ClinGen gnomAD
rs1294773570 CA341542751	52	Q>P		No	ClinGen TOPMed
CA28681843 rs867004827	53	M>I		No	ClinGen Ensembl
CA992507 rs770225385	53	M>V		No	ClinGen ExAC gnomAD
rs1234568897 CA341542567	58	Q>*		No	ClinGen gnomAD
rs1570565168 RCV001008927	59	D>missing		No	ClinVar dbSNP
rs1376701903 CA341542550	59	D>N		No	ClinGen gnomAD
CA992491 rs372515497	60	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341542465 rs1319655042	66	C>Y		No	ClinGen TOPMed
CA28681778 rs369218401	68	E>Q		No	ClinGen Ensembl
rs1570565133 CA341542393	72	I>V		No	ClinGen Ensembl
rs745918238 CA992489	74	Y>C		No	ClinGen ExAC gnomAD
CA341542286 rs1467112693	77	V>L		No	ClinGen TOPMed
rs1200946943 CA341542243	79	Q>R		No	ClinGen TOPMed
CA992486 rs747378581	84	I>V		No	ClinGen ExAC gnomAD
rs754606257 CA992484	85	I>S		No	ClinGen ExAC gnomAD
CA992482 RCV001339765 rs140250745	86	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748928144 RCV001322496 CA992483	86	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341542107 rs1171893682	88	M>I		No	ClinGen TOPMed
rs1440813990 CA341542070	91	L>P		No	ClinGen gnomAD
CA992478 rs757130132	94	D>A		No	ClinGen ExAC TOPMed gnomAD
rs201588334 CA992479	94	D>N		No	ClinGen ExAC TOPMed gnomAD
CA992477 rs751377702	95	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1284340022 CA341541990	96	A>T		No	ClinGen gnomAD
rs1342662745 CA341541968	97	E>V		No	ClinGen TOPMed
rs763912191 CA992476 RCV001069794	98	P>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1279813193 CA341541944	99	S>R		No	ClinGen gnomAD
CA992475 rs762626564	99	S>R		No	ClinGen ExAC gnomAD
CA992474 rs753011209	100	C>Y		No	ClinGen ExAC gnomAD
CA992473 rs146695290	101	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA992472 rs146695290	101	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341540913 rs1162552300	102	D>Y		No	ClinGen TOPMed gnomAD
rs145002495 CA992454	104	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM893546 CA992453 rs759770362	105	R>Q	Variant assessed as Somatic; 0.0001387 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
RCV001325032 rs753984783 CA992452	106	Q>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs3738766 RCV001345275	107	L>V		No	ClinVar dbSNP
CA992450 rs760803840	108	N>S		No	ClinGen ExAC gnomAD
rs1043276813 CA28677705	110	L>R		No	ClinGen Ensembl
rs1219753302 CA341540670	113	S>F		No	ClinGen gnomAD
CA992446 RCV001053124 rs775374577	114	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341540605 rs147269835 CA992444 RCV001055414	117	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
rs780793773 CA992443	118	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1354031145 CA341540503	121	P>L		No	ClinGen TOPMed
rs1199544222 CA341540487	122	E>D		No	ClinGen TOPMed
rs1275753094 CA341540470	123	L>P		No	ClinGen gnomAD
CA341540451 rs41280330	124	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1362499489 CA341540410	125	E>G		No	ClinGen gnomAD
rs1433982050 CA341540376	126	V>F		No	ClinGen gnomAD
CA992439 rs758202508	128	R>S		No	ClinGen ExAC TOPMed gnomAD
rs752549211 CA992438	129	R>M		No	ClinGen ExAC gnomAD
CA992437 rs778799065	129	R>S		No	ClinGen ExAC gnomAD
rs752549211 CA341540274	129	R>T		No	ClinGen ExAC gnomAD
CA341540154 rs754150816	133	D>N		No	ClinGen ExAC gnomAD
CA992435 rs754150816	133	D>Y		No	ClinGen ExAC gnomAD
CA341540109 rs1209757820	134	G>S		No	ClinGen gnomAD
CA992434 rs766682709	135	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1570564158 CA341540053	136	V>G		No	ClinGen Ensembl
rs973809932 CA28677658	136	V>M		No	ClinGen TOPMed gnomAD
rs756332145 CA992433	138	A>T		No	ClinGen ExAC gnomAD
CA341540003 rs1570564155	138	A>V		No	ClinGen Ensembl
rs768086755 CA992431 RCV001299821 COSM1235640	141	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA341539954 rs768086755	141	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	142	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774809648 CA992429	145	E>V		No	ClinGen ExAC gnomAD
CA992428 rs764484604	147	Q>*		No	ClinGen ExAC
TCGA novel	149	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA992426 rs776322769	152	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1446332339 CA341539637	153	S>F		No	ClinGen gnomAD
CA341539226 rs760195431	155	Y>*		No	ClinGen ExAC gnomAD
rs1301091558 CA341539235	155	Y>C		No	ClinGen gnomAD
rs766033906 CA992408	155	Y>H		No	ClinGen ExAC gnomAD
rs772147864 CA28676540	157	N>H		No	ClinGen Ensembl
rs942106145 CA28676534	157	N>K		No	ClinGen TOPMed
TCGA novel	159	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM200981 rs983915440 CA28676505	161	R>Q	large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1418297249 CA341539063	165	P>H		No	ClinGen gnomAD
CA28676497 rs953848102	165	P>S		No	ClinGen TOPMed
rs747669348 CA992404	166	E>D		No	ClinGen ExAC TOPMed gnomAD
CA341538999 rs1470930572	167	Y>*		No	ClinGen TOPMed
CA992403 rs774485451	167	Y>F		No	ClinGen ExAC gnomAD
CA341538979 rs1309880555	168	L>P		No	ClinGen Ensembl
CA341538939 rs1254877756	169	P>L		No	ClinGen gnomAD
rs1028161660 CA28676465	170	S>G		No	ClinGen TOPMed gnomAD
CA992401 rs768651686	170	S>R		No	ClinGen ExAC gnomAD
rs1215776841 RCV001230547 CA341538825	174	V>M		No	ClinGen ClinVar dbSNP gnomAD
rs1570562624 CA341538804	175	L>I		No	ClinGen Ensembl
CA341538790 rs1395145498	175	L>P		No	ClinGen TOPMed
CA992399 rs779949808	176	R>*		No	ClinGen ExAC TOPMed gnomAD
CA28676447 rs374210835	176	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA992398 rs374210835	176	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA341538723 rs1352705122	177	S>P		No	ClinGen TOPMed
TCGA novel	178	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1310692549 CA341538651 RCV001043955	178	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1557918835 CA341538548	181	T>I		No	ClinGen Ensembl
rs746117122 CA992396	182	T>M		No	ClinGen ExAC gnomAD
rs1799940 VAR_014783 CA28676433	183	G>D		No	ClinGen UniProt Ensembl dbSNP
rs751633351 CA992393	184	I>N		No	ClinGen ExAC gnomAD
rs201798524 RCV001039036 CA992394	184	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs370869387 CA992392	185	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341538408 rs1338889820	186	E>D		No	ClinGen TOPMed
rs758844656 CA992391	189	F>L		No	ClinGen ExAC gnomAD
rs753083112 CA992390	189	F>Y		No	ClinGen ExAC gnomAD
CA341538291 rs1162212166	190	S>P		No	ClinGen gnomAD
COSM170495 RCV001225330 rs759910267 CA992388	191	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1476759737 CA341538203	192	K>T		No	ClinGen gnomAD
rs1452635400 CA341538152	193	D>E		No	ClinGen TOPMed gnomAD
rs998557563 CA28676411	194	L>S		No	ClinGen TOPMed
CA341537623 rs1363591492	201	V>M		No	ClinGen TOPMed
rs777936715 CA992357	205	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA28676180 rs1048021529	206	S>A		No	ClinGen Ensembl
rs267597907 CA992355	207	E>K		No	ClinGen ExAC TOPMed gnomAD
rs267597907 CA28676164	207	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA341537381 rs1465482210	209	K>Q		No	ClinGen gnomAD
CA341537360 rs1452051764	209	K>R		No	ClinGen TOPMed
CA341537210 rs1454888319	213	H>R		No	ClinGen gnomAD
CA341537215 rs1557918601	213	H>Y		No	ClinGen Ensembl
RCV001206705 rs1649580974	217	G>E		No	ClinVar dbSNP
rs1557918584 CA341536782	226	A>T		No	ClinGen Ensembl
TCGA novel	228	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA28676133 rs887755996	228	S>N		No	ClinGen TOPMed
rs1314970248 CA341536578	230	Y>*		No	ClinGen TOPMed
CA28676130 rs1050400219	230	Y>C		No	ClinGen TOPMed
rs1200387352 CA341536525	231	D>E		No	ClinGen gnomAD
rs751307255 CA992349	232	M>T		No	ClinGen ExAC gnomAD
CA992348 rs763825174	233	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1282937063 CA341536433	233	V>M		No	ClinGen gnomAD
CA992347 rs758050645	234	L>P		No	ClinGen ExAC TOPMed gnomAD
CA341536327 rs1322188836	235	V>A		No	ClinGen TOPMed
CA341536368 rs1308143262	235	V>M		No	ClinGen gnomAD
CA341536086 rs1483336292	240	V>M		No	ClinGen TOPMed
COSM893542 rs142609327 CA992323	242	R>H	Variant assessed as Somatic; 9.399e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760527034 CA992321	243	M>I		No	ClinGen ExAC TOPMed gnomAD
CA992322 RCV001347622 rs535592857	243	M>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA341534376 rs1351044480	244	H>P		No	ClinGen gnomAD
RCV001341174 CA992320 rs147849105	245	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341534368 rs147849105	245	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA341534333 rs1443372900	247	L>F		No	ClinGen TOPMed
rs1412729148 CA341534328 RCV001346166	248	H>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1474294427 CA341534321	248	H>R		No	ClinGen gnomAD
CA341534276 rs1358178810	252	S>G		No	ClinGen TOPMed gnomAD
CA992319 rs767751902	253	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1189352767 CA341534247	254	C>R		No	ClinGen gnomAD
CA992318 rs762058433	254	C>Y		No	ClinGen ExAC gnomAD
rs774408503 CA992317	257	K>T		No	ClinGen ExAC gnomAD
CA341534175 CA341534178 rs1218328685	258	F>L		No	ClinGen TOPMed gnomAD
rs1448402231 CA341534171	259	F>L		No	ClinGen gnomAD
rs768833008 CA992316	260	A>T		No	ClinGen ExAC TOPMed gnomAD
CA992315 rs762929495	260	A>V		No	ClinGen ExAC TOPMed
rs770359260 CA992313	262	T>N		No	ClinGen ExAC gnomAD
CA341534083 rs1294596437	265	V>F		No	ClinGen gnomAD
rs1452869796 RCV001345798 CA341534060	266	L>P		No	ClinGen ClinVar TOPMed dbSNP
rs746250209 CA992312	266	L>V		No	ClinGen ExAC gnomAD
rs1193859398 CA341533969	269	N>I		No	ClinGen TOPMed
CA992311 rs781647200	269	N>K		No	ClinGen ExAC gnomAD
CA28675486 rs191211731	270	K>N		No	ClinGen 1000Genomes
rs913170121 CA28675481	272	D>E		No	ClinGen Ensembl
CA341533910 rs771880106	272	D>G		No	ClinGen ExAC TOPMed gnomAD
RCV001344315 CA992310 rs771880106	272	D>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368906691 CA992309	273	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA341533850 rs1157859801	274	F>L		No	ClinGen gnomAD
rs754570281 CA341533815	275	E>D		No	ClinGen ExAC TOPMed gnomAD
CA341533791 rs1396792297	276	E>G		No	ClinGen gnomAD
CA341533712 rs1465582550	278	I>M		No	ClinGen TOPMed gnomAD
rs1165674925 CA341533726	278	I>V		No	ClinGen TOPMed gnomAD
CA341533680 rs1417945458	279	K>N		No	ClinGen TOPMed gnomAD
rs753280339 CA992305	280	K>E		No	ClinGen ExAC gnomAD
rs1475975747 CA341533642	280	K>N		No	ClinGen gnomAD
rs1246478420 CA341533594	282	H>D		No	ClinGen gnomAD
CA341533378 rs1274525610	288	P>L		No	ClinGen TOPMed gnomAD
rs1364641553 CA341533394	288	P>T		No	ClinGen TOPMed
rs750251941 CA992302	289	E>D		No	ClinGen ExAC gnomAD
CA992301 rs767343299	291	D>N		No	ClinGen ExAC TOPMed gnomAD
CA28675448 rs767343299	291	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA28675291 rs200224608	292	G>D		No	ClinGen Ensembl
rs925715201 CA28675445 RCV001314107	292	G>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs750410966 CA992280	293	N>D		No	ClinGen ExAC gnomAD
rs960869286 CA28675283	293	N>K		No	ClinGen gnomAD
rs781094332 CA992279	294	N>I		No	ClinGen ExAC gnomAD
rs751249807 CA341532924	296	Y>*		No	ClinGen ExAC TOPMed gnomAD
RCV001318924 CA28675279 rs1025845483	296	Y>C		No	ClinGen ClinVar dbSNP gnomAD
rs764393652 CA992276	298	D>N		No	ClinGen ExAC gnomAD
CA341532821 rs200056419	299	A>E		No	ClinGen ESP TOPMed
rs200056419 CA992273	299	A>V		No	ClinGen ESP TOPMed
CA992270 rs759662860	300	G>E		No	ClinGen ExAC gnomAD
RCV000505046 rs1553226355 CA341532697	302	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA341532670 rs1309275044 RCV001065296	303	I>M		No	ClinGen ClinVar dbSNP gnomAD
CA992269 rs777330856	305	S>N		No	ClinGen ExAC TOPMed gnomAD
CA28675244 rs775417913	308	L>P		No	ClinGen Ensembl
CA992266 RCV001226741 rs200137591	311	N>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341532371 rs368195234	313	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA992264 rs368195234 COSM893541	313	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs950519744 CA28675227	315	D>H		No	ClinGen TOPMed
TCGA novel	315	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419203047 CA341532237	317	K>E		No	ClinGen gnomAD
CA525626643 rs1557917529	320	Y>*		No	ClinGen Ensembl
rs920430057 CA28675222	320	Y>C		No	ClinGen TOPMed
rs745377564 CA992262	321	S>G		No	ClinGen ExAC TOPMed gnomAD
CA341532118 rs1557917525	321	S>N		No	ClinGen Ensembl
rs781198345 CA992261	322	H>N		No	ClinGen ExAC TOPMed gnomAD
RCV001207955 rs139314029 CA28675213	322	H>Q		No	ClinGen ClinVar ESP TOPMed dbSNP
CA341532020 rs1476110210	323	M>L		No	ClinGen TOPMed gnomAD
rs1476110210 CA341532036	323	M>V		No	ClinGen TOPMed gnomAD
rs1257988049 CA341531997	324	T>A		No	ClinGen TOPMed gnomAD
CA28675206 rs973704468	330	Q>*		No	ClinGen TOPMed
rs1204281827 CA341531733	331	N>H		No	ClinGen gnomAD
CA992259 rs746845652	332	V>A		No	ClinGen ExAC gnomAD
CA341531667 rs1240108484	332	V>I		No	ClinGen TOPMed
RCV000994063 CA341531619 rs1570560469	333	K>I		No	ClinGen ClinVar Ensembl dbSNP
CA341531534 rs1476297172	336	F>L		No	ClinGen TOPMed
CA992258 rs777393742	337	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1271278050 CA341531420	339	V>A		No	ClinGen gnomAD
rs1557917493 CA341531430	339	V>L		No	ClinGen Ensembl
CA341531407 rs1235691202	340	T>A		No	ClinGen gnomAD
RCV001326594 CA992257 rs758178456	342	I>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA992256 rs753014058	344	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1053006467 CA28675184	350	D>G		No	ClinGen TOPMed
TCGA novel	350	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364497953 CA341531079	350	D>Y		No	ClinGen gnomAD
CA341531002 rs1394659213	352	G>S		No	ClinGen TOPMed
RCV001212260 rs61754627 CA992254	353	L>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD

1 associated diseases with P19087

[MIM: 613856]: Achromatopsia 4 (ACHM4)

An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. . Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P19087

Type	Name	Position	InterPro Accession
domain	Small GTP-binding protein domain	12 - 139	IPR005225

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium, photoreceptor outer segment Photoreceptor inner segment	Localizes mainly in the outer segment in the dark-adapted state, whereas is translocated to the inner part of the photoreceptors in the light-adapted state During dark-adapted conditions, in the presence of UNC119 mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
photoreceptor inner segment	The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
photoreceptor outer segment membrane	The membrane surrounding the outer segment of a vertebrate photoreceptor.
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.

6 GO annotations of molecular function

Name	Definition
G protein-coupled photoreceptor activity	Combining with incidental electromagnetic radiation, particularly visible light, and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
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.

23 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).
background adaptation	Any process in which an organism changes its pigmentation (lightening in response to a brighter environment or darkening in response to a dimmer environment) in response to a change in light intensity.
cell morphogenesis	The developmental process in which the size or shape of a cell is generated and organized.
cone retinal bipolar cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a cone retinal bipolar cell.
detection of chemical stimulus involved in sensory perception of bitter taste	The series of events required for a bitter taste stimulus to be received and converted to a molecular signal.
detection of light stimulus involved in visual perception	The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal.
dopamine metabolic process	The chemical reactions and pathways involving dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline.
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.
gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
homeostasis of number of retina cells	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in the retina.
L-glutamate import	The directed movement of L-glutamate, the L-enantiomer of the anion of 2-aminopentanedioic acid, into a cell or organelle.
neural tissue regeneration	The regrowth of neural tissue following its loss or destruction.
phototransduction	The sequence of reactions within a cell required to convert absorbed photons into a molecular signal.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
reactive gliosis	A neuroinflammatory response, occurring over several days, during which glial cells undergo nonspecific reactive changes in response to damage to the central nervous system (CNS); typically involves the proliferation or hypertrophy of different types of glial cells.
response to organic cyclic compound	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.
response to UV	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
retinal cone cell development	Development of a cone cell, one of the sensory cells in the eye that reacts to the presence of light. Cone cells contain the photopigment iodopsin or cyanopsin and are responsible for photopic (daylight) vision.
retinal rod cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a retinal rod cell.
tissue remodeling	The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling.
visual behavior	The behavior of an organism in response to a visual stimulus.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

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
P04695	GNAT1	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P08239	GNAO1	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P04696	GNAT2	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
A8MTJ3	GNAT3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P08754	GNAI3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P11488	GNAT1	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19086	GNAZ	Guanine nucleotide-binding protein G	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
P50148	GNAQ	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
O95837	GNA14	Guanine nucleotide-binding protein subunit alpha-14	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
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
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
P50149	Gnat2	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
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
Q0DJ33	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Oryza sativa subsp. japonica (Rice)	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
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
P91907	gpa-15	Guanine nucleotide-binding protein alpha-15 subunit	Caenorhabditis elegans	SS
Q20907	gpa-8	Guanine nucleotide-binding protein alpha-8 subunit	Caenorhabditis elegans	PR
Q21917	gpa-7	Guanine nucleotide-binding protein alpha-7 subunit	Caenorhabditis elegans	SS
Q93743	gpa-6	Guanine nucleotide-binding protein alpha-6 subunit	Caenorhabditis elegans	SS
O76584	gpa-11	Guanine nucleotide-binding protein alpha-11 subunit	Caenorhabditis elegans	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
MGSGASAEDK	ELAKRSKELE	KKLQEDADKE	AKTVKLLLLG	AGESGKSTIV	KQMKIIHQDG
70	80	90	100	110	120
YSPEECLEFK	AIIYGNVLQS	ILAIIRAMTT	LGIDYAEPSC	ADDGRQLNNL	ADSIEEGTMP
130	140	150	160	170	180
PELVEVIRRL	WKDGGVQACF	ERAAEYQLND	SASYYLNQLE	RITDPEYLPS	EQDVLRSRVK
190	200	210	220	230	240
TTGIIETKFS	VKDLNFRMFD	VGGQRSERKK	WIHCFEGVTC	IIFCAALSAY	DMVLVEDDEV
250	260	270	280	290	300
NRMHESLHLF	NSICNHKFFA	ATSIVLFLNK	KDLFEEKIKK	VHLSICFPEY	DGNNSYDDAG
310	320	330	340	350
NYIKSQFLDL	NMRKDVKEIY	SHMTCATDTQ	NVKFVFDAVT	DIIIKENLKD	CGLF