AiPD: Autoinhibited Protein Database

Q8TDT2

Gene name	GPR152 (PGR5)
Protein name	Probable G-protein coupled receptor 152
Names	G-protein coupled receptor PGR5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:390212
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

287-470 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

287-470 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

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

Autoinhibited structure

Activated structure

1 structures for Q8TDT2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TDT2-F1	Predicted				AlphaFoldDB

431 variants for Q8TDT2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6139984 rs79423227 RCV000988583	61	G>R	Cone-rod synaptic disorder, congenital nonprogressive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754851637 CA6140023	2	D>N		No	ClinGen ExAC TOPMed gnomAD
rs140961380 CA6140022	5	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1590994667 CA381525102	8	D>A		No	ClinGen Ensembl
CA381525075 rs1590994659	9	L>R		No	ClinGen Ensembl
rs749943043 CA6140018	10	G>D		No	ClinGen ExAC TOPMed gnomAD
rs377022444 CA6140016	17	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377022444 CA381524969	17	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6140015 rs774874245	17	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6140014 rs373833267	18	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446693109 CA381524952	19	E>D		No	ClinGen TOPMed
rs763317826 CA6140013	20	L>I		No	ClinGen ExAC gnomAD
rs929793572 CA224141317	20	L>P		No	ClinGen Ensembl
rs1426553125 CA381524930	23	E>K		No	ClinGen gnomAD
rs769975157 CA381524904	26	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	26	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224141316 rs199732498	26	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA6140012 rs199732498	26	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1590994579 CA381524907	26	Y>S		No	ClinGen Ensembl
CA381524899 rs1255016718	27	P>H		No	ClinGen TOPMed
CA381524900 rs1241335011	27	P>S		No	ClinGen TOPMed
COSM1356429 CA224141303 rs897278849	28	Q>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs757144127	28	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1038429610 CA6140009	28	Q>R		No	ClinGen Ensembl
CA6140008 rs746068270	29	G>D		No	ClinGen ExAC gnomAD
CA381524889 rs1194186874	29	G>S		No	ClinGen gnomAD
rs781177395 CA6140007	30	G>D		No	ClinGen ExAC gnomAD
rs370828822 CA6140006	31	W>R		No	ClinGen ESP ExAC TOPMed
rs747045276 CA6140005	32	D>G		No	ClinGen ExAC gnomAD
CA381524861 rs778997675	33	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6140004 rs778997675	33	T>R		No	ClinGen ExAC TOPMed gnomAD
CA6140001 rs779870212	36	L>P		No	ClinGen ExAC TOPMed gnomAD
CA381524826 rs1590994490	37	V>G		No	ClinGen Ensembl
CA381524821 rs1590994482	38	A>P		No	ClinGen Ensembl
TCGA novel	42	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761395961 CA6139997	45	P>L		No	ClinGen ExAC TOPMed gnomAD
CA224141244 rs916546709	46	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs751016714 CA224141243	47	N>I		No	ClinGen ExAC TOPMed gnomAD
rs751016714 CA6139996	47	N>S		No	ClinGen ExAC TOPMed gnomAD
rs141236237 CA6139994	51	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs928200440 CA224141230	53	L>P		No	ClinGen gnomAD
rs770170509 CA6139992	54	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1183537840 CA381524603	55	G>D		No	ClinGen gnomAD
rs369375444 CA6139990	55	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443277578 CA381524590	56	S>F		No	ClinGen gnomAD
CA224141229 rs199829942	57	Q>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	59	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6139987 rs541740713	59	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747098423 CA6139989	59	R>W		No	ClinGen ExAC TOPMed gnomAD
CA381524555 rs1219038019	60	H>L		No	ClinGen gnomAD
CA6139985 rs374934185	60	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	60	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745586054 CA6139982	64	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200589652 CA6139980	65	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147312583 CA6139979	65	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381524474 rs763560796	67	A>E		No	ClinGen ExAC TOPMed gnomAD
rs763560796 CA6139978	67	A>V		No	ClinGen ExAC TOPMed gnomAD
rs144090344 CA6139975	68	L>Q		No	ClinGen ESP ExAC gnomAD
CA381524432 rs1240410388	71	L>F		No	ClinGen gnomAD
TCGA novel	72	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6139971 rs766690323	74	A>V		No	ClinGen ExAC TOPMed
CA6139969 rs773475802	75	L>P		No	ClinGen ExAC gnomAD
rs1432403136 CA381524356	77	D>G		No	ClinGen gnomAD
rs748200350 CA224141132 TCGA novel CA6139967	78	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1291988725 CA381524317	80	F>L		No	ClinGen TOPMed gnomAD
CA6139965 rs769563551	80	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6139966 rs775504944	80	F>Y		No	ClinGen ExAC gnomAD
rs1401465042 CA381524290	82	A>E		No	ClinGen gnomAD
rs150873557 CA6139964	84	A>T		No	ClinGen ESP ExAC gnomAD
rs780839937 CA6139963	84	A>V		No	ClinGen ExAC TOPMed gnomAD
CA381524267 rs1351956671	85	A>T		No	ClinGen gnomAD
rs1168655337 CA381524243	88	I>V		No	ClinGen TOPMed
rs746639392 CA6139961	89	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	90	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	90	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381524193 rs777354030	92	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6139959 rs558662013	92	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777354030 CA6139960	92	R>W		No	ClinGen ExAC TOPMed gnomAD
CA224141085 rs867805011	93	H>P		No	ClinGen Ensembl
rs866046742 CA224141081	95	G>*		No	ClinGen Ensembl
rs375896674 CA6139958	95	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA224141076 rs1002268917	96	H>Y		No	ClinGen TOPMed gnomAD
CA6139957 rs533858336	97	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1339469115 CA381524135	97	W>R		No	ClinGen TOPMed
CA6139956 rs755426722	98	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1222254822 CA381524080	100	G>V		No	ClinGen gnomAD
rs1220724562 CA381524065	102	A>P		No	ClinGen TOPMed
rs766828778 CA6139954	105	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM244764 rs201384962 CA6139953	105	R>H	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs766828778 CA224141074 COSM1676236	105	R>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6139952 rs773602358	107	Y>C		No	ClinGen ExAC gnomAD
rs1370214036 CA381523981	108	Y>C		No	ClinGen gnomAD
COSM1208655 CA381523938 rs1466243708	111	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1208655 rs1013487922 CA224141043	111	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA381523947 rs1398667502	111	W>R		No	ClinGen gnomAD
CA6139949 rs761970403	112	G>S		No	ClinGen ExAC gnomAD
rs1427012200 CA381523913	113	V>G		No	ClinGen gnomAD
rs778093692 CA224141027	113	V>M		No	ClinGen TOPMed gnomAD
CA224141023 rs1055556848	114	S>P		No	ClinGen Ensembl
CA381523894 rs1438832776	115	Y>H		No	ClinGen gnomAD
CA6139946 rs745757748	116	S>P		No	ClinGen ExAC TOPMed gnomAD
rs745757748 CA381523877	116	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1459723430 CA381523849	118	G>D		No	ClinGen TOPMed
rs148000171 CA6139944	118	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746764243 CA6139943	119	L>F		No	ClinGen ExAC gnomAD
CA381523841 rs746764243	119	L>V		No	ClinGen ExAC gnomAD
rs1313518239 CA381523819	120	F>L		No	ClinGen gnomAD
rs372634169 CA6139939	124	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360334792 CA381523763	125	L>R		No	ClinGen TOPMed
CA381523735 rs1467784847	128	D>G		No	ClinGen gnomAD
CA6139936 rs780669506	128	D>H		No	ClinGen ExAC TOPMed gnomAD
CA381523738 rs780669506	128	D>N		No	ClinGen ExAC TOPMed gnomAD
rs191782000 CA6139935	129	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145363353 CA6139934	129	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381523730 rs191782000	129	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381523720 rs1565157767	130	C>*		No	ClinGen Ensembl
CA6139932 rs367720617	133	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs367720617 CA6139931	133	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487216957 CA381523683	134	L>P		No	ClinGen TOPMed
CA6139927 rs776578974	136	P>R		No	ClinGen ExAC gnomAD
rs957375863 CA224140965	137	H>P		No	ClinGen TOPMed
CA381523650 rs1214648803	137	H>Y		No	ClinGen TOPMed
CA381523596 rs760475740	139	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA381523599 rs1411780758	139	Y>F		No	ClinGen TOPMed
CA6139923 rs200792057	143	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs771778277 CA6139922	143	R>H		No	ClinGen ExAC TOPMed gnomAD
rs374518560 CA6139921	144	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768083274 CA224140935	145	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768083274 CA381523412	145	V>D		No	ClinGen ExAC TOPMed gnomAD
CA6139919 rs768083274	145	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1382610925 CA381523402	146	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6139918 rs138530126	146	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381523391 rs138530126	146	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs780722780 CA6139917	149	L>P		No	ClinGen ExAC
rs755343622 CA6139915	150	W>*		No	ClinGen ExAC
CA6139913 rs1554995491	150	W>C		No	ClinGen Ensembl
rs756679563 CA6139916	150	W>R		No	ClinGen ExAC
CA6139911 rs371602409	151	V>F		No	ClinGen ESP ExAC gnomAD
CA6139912 rs371602409	151	V>I		No	ClinGen ESP ExAC gnomAD
rs748564423 CA224140919	153	A>G		No	ClinGen TOPMed gnomAD
CA6139909 rs376409557	153	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6139906 rs554436929	154	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6139907 rs560127653	154	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1436004348 CA381523179	156	W>*		No	ClinGen gnomAD
rs1484310776 CA381523171	157	V>L		No	ClinGen TOPMed
rs144630243 CA6139905	158	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381523158 rs1167246383	158	L>V		No	ClinGen gnomAD
rs1238108520 CA381523144	159	A>D		No	ClinGen TOPMed
CA6139901 rs761631025	162	F>C		No	ClinGen ExAC TOPMed gnomAD
CA381523079 rs1565157657	163	S>G		No	ClinGen Ensembl
CA381523066 rs773881133	163	S>R		No	ClinGen ExAC TOPMed gnomAD
CA224140876 rs961215424	164	V>A		No	ClinGen Ensembl
CA224140882 rs994064657	164	V>M		No	ClinGen TOPMed gnomAD
rs374063857 CA6139899	165	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	165	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6139895 rs529951302	171	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA381522921 rs1277603507	173	A>V		No	ClinGen gnomAD
rs368998457 CA6139893	174	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368998457 CA6139892	174	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777873355 CA6139891	175	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1374596179 CA381522903	175	W>S		No	ClinGen TOPMed
rs201188198 CA224140867	176	W>*		No	ClinGen TOPMed gnomAD
rs1400455893 CA381522870	176	W>*		No	ClinGen gnomAD
rs1590993554 CA381522872	176	W>G		No	ClinGen Ensembl
rs1590993541 CA381522858	177	Y>D		No	ClinGen Ensembl
rs1003504971 CA224140839	178	D>G		No	ClinGen gnomAD
rs201669048 CA6139889	178	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476545453 CA381522801	179	L>P		No	ClinGen gnomAD
CA381522807 rs906502285	179	L>V		No	ClinGen TOPMed gnomAD
rs765270446 CA6139888	180	V>A		No	ClinGen ExAC gnomAD
rs1425406570 CA381522796	180	V>L		No	ClinGen gnomAD
CA6139887 rs755001152	183	L>M		No	ClinGen ExAC gnomAD
CA381522691 rs1212188386	184	D>E		No	ClinGen gnomAD
CA381522624 rs1276789416	186	W>C		No	ClinGen TOPMed
rs945603442 CA224140808	186	W>G		No	ClinGen Ensembl
CA6139885 rs767420029	187	D>Y		No	ClinGen ExAC gnomAD
rs1257523272 CA381522595	188	S>I		No	ClinGen gnomAD
CA6139884 rs761525276	188	S>R		No	ClinGen ExAC TOPMed gnomAD
rs774180675 CA6139883	189	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381522547 rs145130701	190	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6139882 rs145130701	190	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA381522492 rs1232779973	192	S>L		No	ClinGen TOPMed gnomAD
rs1232779973 CA381522501	192	S>W		No	ClinGen TOPMed gnomAD
CA6139880 rs775192836	194	R>M		No	ClinGen ExAC gnomAD
rs1054385677 CA224140758	195	M>L		No	ClinGen Ensembl
rs1477942204 CA381522385	197	E>D		No	ClinGen TOPMed
CA381522403 rs1330582527	197	E>K		No	ClinGen gnomAD
rs202069820 CA381522376	198	V>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs202069820 CA224140749	198	V>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1480457020 CA381522342	200	G>E		No	ClinGen TOPMed
CA6139877 rs777011353	201	G>V		No	ClinGen ExAC gnomAD
rs1477470046 CA381522275	204	P>S		No	ClinGen gnomAD
rs1397565155 CA381522256	205	F>L		No	ClinGen TOPMed
rs1329537959 CA381522183	209	L>F		No	ClinGen TOPMed
CA381522162 rs1273251291	210	V>A		No	ClinGen TOPMed
CA6139872 rs540353236	210	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381522173 rs540353236	210	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758588736 CA6139871	212	H>R		No	ClinGen ExAC gnomAD
rs572941850 CA6139868	213	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779067364 CA6139869	213	V>M		No	ClinGen ExAC gnomAD
CA381522078 rs1235223699	216	Q>*		No	ClinGen gnomAD
rs1235223699 CA381522079	216	Q>E		No	ClinGen gnomAD
CA6139867 rs753855801	217	A>T		No	ClinGen ExAC gnomAD
CA381522006 rs1444414605	219	A>T		No	ClinGen gnomAD
rs757211155 CA6139864	221	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6139863 rs201100994	221	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381521922 rs201100994	221	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1219869338 CA381521856	223	C>F		No	ClinGen TOPMed
rs1173965141 CA381521878	223	C>R		No	ClinGen gnomAD
rs1219869338 CA381521869	223	C>Y		No	ClinGen TOPMed
rs376957888 CA6139861	224	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381521847 rs1248863056	224	H>Y		No	ClinGen TOPMed
CA381521808 rs1177339160	225	R>C		No	ClinGen TOPMed gnomAD
CA381521811 rs1177339160	225	R>G		No	ClinGen TOPMed gnomAD
rs764918625 CA6139859	225	R>H		No	ClinGen ExAC TOPMed gnomAD
rs575121766 CA6139857	228	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771408908 CA6139855	230	A>E		No	ClinGen ExAC TOPMed gnomAD
CA224140604 rs972381021	230	A>T		No	ClinGen gnomAD
rs1348348579 CA381521565	231	A>T		No	ClinGen gnomAD
CA6139854 rs761214224	232	C>*		No	ClinGen ExAC gnomAD
CA6139852 rs772456387	233	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6139853 rs200064798	233	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1565157416 CA381521456	234	G>D		No	ClinGen Ensembl
rs1280055879 CA381521492	234	G>S		No	ClinGen gnomAD
CA224140550 rs371595474	236	A>D		No	ClinGen gnomAD
CA6139850 rs538131705	236	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6139849 rs538131705	236	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6139847 rs780147374	237	R>C		No	ClinGen ExAC TOPMed gnomAD
rs146535354 CA6139845	237	R>H		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs146535354 CA381521365	237	R>P		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs780147374 CA381521376	237	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381521311 rs1157169962	239	A>D		No	ClinGen gnomAD
rs1360291757 CA381521342	239	A>T		No	ClinGen gnomAD
CA6139843 rs751541694	241	T>A		No	ClinGen ExAC
rs202045202 CA381521123	245	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6139841 rs202045202	245	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6139840 rs752484931	246	Y>C		No	ClinGen ExAC gnomAD
CA224140498 rs201685250	247	V>G		No	ClinGen TOPMed
rs765042957 CA6139839	250	R>G		No	ClinGen ExAC gnomAD
rs759258375 CA6139838	252	P>L		No	ClinGen ExAC gnomAD
rs1188541312 CA381520928	252	P>S		No	ClinGen gnomAD
CA6139837 rs753329593	253	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA381520904 rs1262221878	253	Y>H		No	ClinGen gnomAD
rs144721473 CA6139836	254	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227652283 CA381520851	254	Q>R		No	ClinGen gnomAD
rs773773099 CA6139832	255	L>P		No	ClinGen ExAC gnomAD
rs772508783 CA381520803	256	A>D		No	ClinGen ExAC gnomAD
rs772508783 CA6139831	256	A>G		No	ClinGen ExAC gnomAD
rs1471755480 CA381520657	262	A>T		No	ClinGen TOPMed
CA381520643 rs1402287482	262	A>V		No	ClinGen TOPMed gnomAD
CA6139827 rs749500232	264	L>R		No	ClinGen ExAC
CA6139825 rs548275297	267	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381520434 rs1358903950	269	S>P		No	ClinGen TOPMed
rs777870201 CA6139823	271	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA381520212 rs1421846032	276	A>S		No	ClinGen TOPMed gnomAD
CA381520226 rs1421846032	276	A>T		No	ClinGen TOPMed gnomAD
CA381520208 rs1196078900	276	A>V		No	ClinGen gnomAD
rs1220785486 CA381520117	280	S>C		No	ClinGen gnomAD
rs569144634 CA381520111	281	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569144634 CA6139819	281	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233437630 CA381520059	282	Y>H		No	ClinGen gnomAD
rs753550917 CA6139818	283	L>M		No	ClinGen ExAC gnomAD
CA6139816 rs760245398	284	I>V		No	ClinGen ExAC gnomAD
CA381519973 rs1363126997	285	L>P		No	ClinGen gnomAD
CA6139813 rs762274993	287	N>K		No	ClinGen ExAC gnomAD
rs774743582 CA6139812	290	L>F		No	ClinGen ExAC gnomAD
rs764460219 CA6139811	291	S>N		No	ClinGen ExAC gnomAD
rs894083989 CA224140417	292	P>A		No	ClinGen Ensembl
rs890936075 CA224140413	295	C>Y		No	ClinGen TOPMed gnomAD
CA6139806 rs776848303	298	A>G		No	ClinGen ExAC gnomAD
rs746021029 CA6139808	298	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746021029 CA6139807	298	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381519327 rs1255553274	301	D>E		No	ClinGen gnomAD
rs1590992934 CA381519331	301	D>G		No	ClinGen Ensembl
CA224140392 rs748077393	301	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748077393 CA6139804	301	D>N		No	ClinGen ExAC TOPMed gnomAD
CA381519244 rs1565157264	302	L>R		No	ClinGen Ensembl
CA6139802 rs754807161	303	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6139803 rs147242558	303	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	305	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381519118 rs1277465116	306	L>P		No	ClinGen gnomAD
rs1370145461 CA381519070	307	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1370145461 CA381519071	307	R>G		No	ClinGen TOPMed gnomAD
rs748976573 CA6139801	307	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381519036 rs1159434740	308	S>F		No	ClinGen TOPMed
CA6139799 rs145380023	309	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766989386 CA6139798	310	L>H		No	ClinGen ExAC gnomAD
rs766989386 CA6139797	310	L>R		No	ClinGen ExAC gnomAD
rs200565832 CA6139796 COSM385834	311	S>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs139892022 CA6139792	314	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6139793 rs149394675	314	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs139892022 CA6139791	314	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381518639 rs1638559	317	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_059323 rs1638559 CA6139789	317	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6139788 rs145897875	318	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171953175 CA381518592	318	C>G		No	ClinGen Ensembl
rs145897875 CA6139786	318	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1207563921 CA381518492	319	E>G		No	ClinGen gnomAD
CA6139785 rs768463558	319	E>K		No	ClinGen ExAC gnomAD
rs1314333484 CA381518444	320	E>G		No	ClinGen gnomAD
CA6139783 rs144597079 COSM1356425	321	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6139784 rs138622501	321	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs141645709 CA6139781	322	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756768532 CA6139779	323	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6139778 rs751016852	325	F>I		No	ClinGen ExAC gnomAD
rs1020991589 CA224140348	325	F>S		No	ClinGen Ensembl
rs201476861 CA6139777	326	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753147953 CA6139775	327	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1378479975 CA381518180	327	P>R		No	ClinGen gnomAD
CA381518145 rs1254813682	329	E>G		No	ClinGen gnomAD
rs375373196 CA6139773	329	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA381518104 rs1300101992	331	Q>H		No	ClinGen TOPMed
CA6139772 rs754146399	335	D>H		No	ClinGen ExAC gnomAD
CA381517961 rs754146399	335	D>N		No	ClinGen ExAC gnomAD
CA381517842 rs1216427742	337	E>A		No	ClinGen gnomAD
CA381517768 rs1283093202	338	G>V		No	ClinGen gnomAD
CA381517731 rs1487494059	340	T>A		No	ClinGen gnomAD
CA6139771 rs766649901	341	L>V		No	ClinGen ExAC gnomAD
TCGA novel	342	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760895810 COSM194554 CA6139770	344	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA381517609 rs768677510	345	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6139768 rs768677510	345	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	345	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6139767 rs28430580	346	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381517539 rs775447523	348	A>D		No	ClinGen ExAC gnomAD
CA6139766 rs775447523	348	A>G		No	ClinGen ExAC gnomAD
CA6139765 rs769503792	349	Q>*		No	ClinGen ExAC gnomAD
CA381517500 rs1399213672	350	S>L		No	ClinGen gnomAD
rs745591715 CA6139764	351	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA381517464 rs780838929	352	M>K		No	ClinGen ExAC TOPMed gnomAD
rs780838929 CA6139763	352	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1565157103 CA381517396	353	D>E		No	ClinGen Ensembl
rs1590992718 CA381517363	354	P>S		No	ClinGen Ensembl
CA224140278 rs866934536	355	V>A		No	ClinGen Ensembl
CA381517348 rs370422069	355	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370422069 CA6139762	355	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA381517276 rs1162024543	357	Q>H		No	ClinGen gnomAD
CA381517181 rs1590992688	360	V>G		No	ClinGen Ensembl
CA381517169 rs1590992686	361	N>T		No	ClinGen Ensembl
CA6139759 rs758994462	364	L>F		No	ClinGen ExAC gnomAD
CA381517030 rs1375304331	365	Q>H		No	ClinGen TOPMed
rs1477058935 CA381517001	367	R>*		No	ClinGen gnomAD
CA6139758 rs148863517	367	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755398795 CA6139757	368	S>*		No	ClinGen ExAC TOPMed gnomAD
rs755398795 CA6139756 COSM931089	368	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6139754 rs374097947	369	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA381514781 rs1565157063	370	P>L		No	ClinGen Ensembl
TCGA novel	370	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6139753 rs373301479	371	T>A		No	ClinGen ESP ExAC gnomAD
CA6139752 rs750564354	373	Q>*		No	ClinGen ExAC gnomAD
rs939683071 CA224139067	374	P>S		No	ClinGen Ensembl
CA381514625 rs1317888274	375	Q>K		No	ClinGen gnomAD
TCGA novel	377	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	378	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6139747 rs775290604	379	T>M	Variant assessed as Somatic; 0.0006092 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381514386 rs984457371	381	Q>E		No	ClinGen TOPMed gnomAD
CA224139011 rs984457371	381	Q>K		No	ClinGen TOPMed gnomAD
rs759388493 CA6139745	383	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs776408067 CA6139743	384	S>L		No	ClinGen ExAC TOPMed gnomAD
CA381514217 rs1361411140	385	D>A		No	ClinGen TOPMed
CA224139002 rs200332338	386	P>T		No	ClinGen 1000Genomes
CA381514153 rs1432961036	387	T>I		No	ClinGen gnomAD
CA381514136 rs1269883472	388	A>D		No	ClinGen TOPMed
CA381514139 rs1196029776	388	A>S		No	ClinGen gnomAD
TCGA novel	390	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381514104 rs1468985704	390	P>S		No	ClinGen gnomAD
CA381513928 rs1257466181	394	L>F		No	ClinGen gnomAD
rs777435664 CA6139737	394	L>H		No	ClinGen ExAC gnomAD
rs937972256 CA224138973	395	M>I		No	ClinGen Ensembl
rs867874910 CA224138976	395	M>T		No	ClinGen TOPMed
rs1215983596 CA381513911	395	M>V		No	ClinGen TOPMed gnomAD
rs146027753 CA6139736	398	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA224138960 rs142413396	398	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6139735 rs142413396	398	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs368946390 CA224138956	399	Q>K		No	ClinGen ESP
rs1330273983 CA381513739	399	Q>P		No	ClinGen gnomAD
rs1348557273 CA381513677	401	D>E		No	ClinGen TOPMed gnomAD
CA6139733 rs755536644	403	V>G		No	ClinGen ExAC gnomAD
rs754293553 CA6139732	404	A>P		No	ClinGen ExAC gnomAD
CA224138933 rs1044173413	407	Q>E		No	ClinGen TOPMed gnomAD
rs780542712 CA6139730	408	A>E		No	ClinGen ExAC gnomAD
rs1590992506 CA381513496	408	A>P		No	ClinGen Ensembl
CA6139727 rs767708020	412	V>I		No	ClinGen ExAC gnomAD
CA381513293 rs1590992484	414	T>P		No	ClinGen Ensembl
rs765229792 CA6139724	415	P>A		No	ClinGen ExAC gnomAD
CA6139722 rs151315541	417	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439630196 CA381513055	423	P>S		No	ClinGen TOPMed gnomAD
CA381513057 rs1439630196	423	P>T		No	ClinGen TOPMed gnomAD
CA224138881 rs961144493	424	S>N		No	ClinGen TOPMed
rs773247414 CA224138869	425	P>A		No	ClinGen gnomAD
rs773247414 CA381513005	425	P>S		No	ClinGen gnomAD
CA6139721 rs142458921	429	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA381512854 rs1344070333	430	S>F		No	ClinGen gnomAD
CA381512783 rs1181730727	433	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA381512797 rs1565156891	433	P>S		No	ClinGen Ensembl
rs772744548 CA6139719 COSM139915	435	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC
CA381512678 rs1348574074	437	P>L		No	ClinGen gnomAD
rs1590992396 CA381512667	438	T>P		No	ClinGen Ensembl
CA224138834 rs146120927	439	P>L		No	ClinGen ESP TOPMed gnomAD
rs747678764 CA224138830 CA6139717	440	G>R		No	ClinGen ExAC TOPMed gnomAD
rs142993445 CA6139715	441	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6139714 rs139855252	443	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780665247 CA6139713	444	D>A		No	ClinGen ExAC gnomAD
rs897955061 CA224138826	445	P>S		No	ClinGen TOPMed
rs756549043 CA6139712	446	A>G		No	ClinGen ExAC gnomAD
TCGA novel	447	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381512386 rs1465118166	448	P>S		No	ClinGen TOPMed
CA381512368 rs1471211052	449	P>A		No	ClinGen gnomAD
CA6139711 rs145976732	450	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187108570 CA381512344	451	S>A		No	ClinGen gnomAD
CA6139710 rs781323306	454	E>K		No	ClinGen ExAC TOPMed gnomAD
rs571614729 CA6139709	456	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA381512209 rs1453332856	458	S>R		No	ClinGen TOPMed
CA6139707 rs751632699	458	S>T		No	ClinGen ExAC gnomAD
rs374344639 CA6139706	459	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590992296 CA381512189	459	T>P		No	ClinGen Ensembl
rs546905508 CA6139704	460	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773054990 CA6139701	462	E>G		No	ClinGen ExAC TOPMed gnomAD
rs760401651 CA6139702	462	E>Q		No	ClinGen ExAC gnomAD
CA6139700 rs149449299	463	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1003935148 CA224138805	464	A>S		No	ClinGen Ensembl
CA381512042 rs1385774992	465	P>L		No	ClinGen TOPMed gnomAD
CA224138800 rs551680940	465	P>S		No	ClinGen gnomAD
rs1420343622 CA381512029	466	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6139697 rs768309222	466	G>S		No	ClinGen ExAC gnomAD
CA381511997 rs1204924502	467	A>E		No	ClinGen TOPMed
COSM1356422 CA6139695 rs199976078	467	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1262155041 CA381511967	468	G>D		No	ClinGen gnomAD
CA224138751 rs748265575	468	G>S		No	ClinGen Ensembl
rs1262155041 CA381511963	468	G>V		No	ClinGen gnomAD
CA6139694 rs137906019	470	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q8TDT2

1 regional properties for Q8TDT2

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	46 - 295	IPR017452

Functions

		Description
EC Number
Subcellular Localization	Cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
G protein-coupled receptor activity	Combining with an extracellular signal 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.
identical protein binding	Binding to an identical protein or proteins.

1 GO annotations of biological process

Name	Definition
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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BXS7	Gpr152	Probable G-protein coupled receptor 152	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDTTMEADLG	ATGHRPRTEL	DDEDSYPQGG	WDTVFLVALL	LLGLPANGLM	AWLAGSQARH
70	80	90	100	110	120
GAGTRLALLL	LSLALSDFLF	LAAAAFQILE	IRHGGHWPLG	TAACRFYYFL	WGVSYSSGLF
130	140	150	160	170	180
LLAALSLDRC	LLALCPHWYP	GHRPVRLPLW	VCAGVWVLAT	LFSVPWLVFP	EAAVWWYDLV
190	200	210	220	230	240
ICLDFWDSEE	LSLRMLEVLG	GFLPFLLLLV	CHVLTQATAC	RTCHRQQQPA	ACRGFARVAR
250	260	270	280	290	300
TILSAYVVLR	LPYQLAQLLY	LAFLWDVYSG	YLLWEALVYS	DYLILLNSCL	SPFLCLMASA
310	320	330	340	350	360
DLRTLLRSVL	SSFAAALCEE	RPGSFTPTEP	QTQLDSEGPT	LPEPMAEAQS	QMDPVAQPQV
370	380	390	400	410	420
NPTLQPRSDP	TAQPQLNPTA	QPQSDPTAQP	QLNLMAQPQS	DSVAQPQADT	NVQTPAPAAS
430	440	450	460
SVPSPCDEAS	PTPSSHPTPG	ALEDPATPPA	SEGESPSSTP	PEAAPGAGPT