Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84059
Gene name Gene Name - the full gene name approved by the HGNC.	Adhesion G protein-coupled receptor V1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADGRV1
Synonyms (NCBI Gene) Gene synonyms aliases	FEB4, GPR98, MASS1, USH2B, USH2C, VLGR1, VLGR1b
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q14.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndro

Show/Hide all(139)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41302834	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, benign-likely-benign	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs41303344	G>A	Likely-pathogenic, benign-likely-benign	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs41303352	A>C,G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs41305898	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs41308297	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs61744480	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs111033517	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs113498662	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs115239207	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs121909761	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121909762	C>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, intron variant, missense variant
rs121909763	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs141701016	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs142097643	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs142356935	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs145294917	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs146954342	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs182990046	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, non coding transcript variant
rs183851734	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs184127858	C>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs186999408	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs189967386	T>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs192561791	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, missense variant, non coding transcript variant
rs199587998	C>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs199839743	C>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs200115167	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs200187681	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs200241260	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs200512504	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs200789563	G>A,T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs200945405	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201236317	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201386977	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs201890097	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs201963060	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs202066007	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs202106463	A>C,G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant, non coding transcript variant
rs202110635	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs202190568	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs202211640	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs369793306	C>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, stop gained
rs369910075	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs371831553	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs371906040	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs371947306	G>T	Benign, benign-likely-benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs371981035	A>G	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs373352597	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs373551551	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373780305	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs373902384	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs375062187	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs376401006	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs376636949	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs376689763	C>G,T	Pathogenic, uncertain-significance	Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs377650415	G>A,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs397517426	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs397517429	->A	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs397517435	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs397517436	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397517441	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs527236131	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs527236132	G>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs527236133	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs544077645	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs727503076	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs727504644	GAGATTACATTCG>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs727504777	C>G,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730880369	->ACGAG	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs746618021	C>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs747622607	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs749630454	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs749956288	C>A,T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs752179149	->A	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs757696771	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs758718347	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs758834029	C>A,G,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs759771981	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs760841840	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs762094907	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs764583867	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs765376986	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs765574676	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs765849229	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs766355750	TCT>-	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant, inframe deletion
rs767570081	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs768589991	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs777309662	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs778288846	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs780180737	CT>-,CTCT	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs794727347	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs794727584	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs796051863	->AACA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs796051864	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs796051866	AAGTGCTGAAATC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs796051867	AA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs869312178	C>G	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs876657647	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs876657694	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs876657695	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs878853348	TTCC>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs886039893	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs900228710	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, stop gained
rs1057517741	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057519383	G>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057520080	T>G	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1060499796	G>A	Pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1131691924	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1276890742	TG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1400695342	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1432643009	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1439933768	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554063934	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554068885	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1554072688	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554090072	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554107590	GAAAAGGAACCGT>TGGGA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554117973	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1554125179	C>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs1554135663	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561416879	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1561441451	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1561543496	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1561660434	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561701900	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1561740143	C>G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1561790371	G>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1561805689	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561843914	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1580567084	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580609047	ATAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580609185	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1580624630	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1581041519	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581088032	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581135405	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581196586	A>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, 3 prime UTR variant
rs1581312596	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581711527	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1581711551	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

Show/Hide all(65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IBA
GO:0001965	Function	G-protein alpha-subunit binding	ISS
GO:0002141	Component	Stereocilia ankle link	ISS
GO:0002142	Component	Stereocilia ankle link complex	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0004930	Function	G protein-coupled receptor activity	NAS	11606593
GO:0005509	Function	Calcium ion binding	IDA	10976914
GO:0005515	Function	Protein binding	IPI	16301216, 16434480, 20440071
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16434480
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	15203201
GO:0007399	Process	Nervous system development	NAS	11606593
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	14740321
GO:0009986	Component	Cell surface	IDA	10976914
GO:0010739	Process	Positive regulation of protein kinase A signaling	ISS
GO:0010855	Function	Adenylate cyclase inhibitor activity	IBA
GO:0010855	Function	Adenylate cyclase inhibitor activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11606593
GO:0016020	Component	Membrane	TAS	15203201
GO:0016787	Function	Hydrolase activity	IEA
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0031647	Process	Regulation of protein stability	ISS
GO:0032420	Component	Stereocilium	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045184	Process	Establishment of protein localization	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IMP	14740321
GO:0048496	Process	Maintenance of animal organ identity	IMP	15671307
GO:0048513	Process	Animal organ development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050877	Process	Nervous system process	IMP	12402266
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	14740321, 15671307
GO:0060113	Process	Inner ear receptor cell differentiation	NAS	25406310
GO:0060122	Process	Inner ear receptor cell stereocilium organization	ISS
GO:0060171	Component	Stereocilium membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071277	Process	Cellular response to calcium ion	IBA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0097264	Process	Self proteolysis	ISS
GO:0098609	Process	Cell-cell adhesion	NAS	11606593
GO:1990075	Component	Periciliary membrane compartment	ISS
GO:1990696	Component	USH2 complex	ISS

MIM	HGNC	e!Ensembl
602851	17416	ENSG00000164199

Protein

UniProt ID

Q8WXG9

Protein name

Adhesion G-protein coupled receptor V1 (ADGRV1) (EC 3.4.-.-) (G-protein coupled receptor 98) (Monogenic audiogenic seizure susceptibility protein 1 homolog) (Usher syndrome type-2C protein) (Very large G-protein coupled receptor 1) [Cleaved into: ADGRV1 s

Protein function

G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03160	Calx-beta	30 → 117	Calx-beta domain	Domain
PF03160	Calx-beta	133 → 237	Calx-beta domain	Domain
PF03160	Calx-beta	252 → 363	Calx-beta domain	Domain
PF03160	Calx-beta	379 → 488	Calx-beta domain	Domain
PF03160	Calx-beta	666 → 746	Calx-beta domain	Domain
PF03160	Calx-beta	763 → 861	Calx-beta domain	Domain
PF03160	Calx-beta	876 → 979	Calx-beta domain	Domain
PF03160	Calx-beta	993 → 1093	Calx-beta domain	Domain
PF03160	Calx-beta	1107 → 1208	Calx-beta domain	Domain
PF13385	Laminin_G_3	1336 → 1496		Domain
PF03160	Calx-beta	1496 → 1546	Calx-beta domain	Domain
PF03160	Calx-beta	1561 → 1666	Calx-beta domain	Domain
PF03160	Calx-beta	1724 → 1809	Calx-beta domain	Domain
PF03160	Calx-beta	1851 → 1952	Calx-beta domain	Domain
PF03160	Calx-beta	1965 → 2079	Calx-beta domain	Domain
PF03160	Calx-beta	2106 → 2206	Calx-beta domain	Domain
PF03160	Calx-beta	2221 → 2324	Calx-beta domain	Domain
PF03160	Calx-beta	2481 → 2543	Calx-beta domain	Domain
PF03160	Calx-beta	2594 → 2676	Calx-beta domain	Domain
PF03160	Calx-beta	2691 → 2790	Calx-beta domain	Domain
PF03160	Calx-beta	2814 → 2925	Calx-beta domain	Domain
PF03160	Calx-beta	2947 → 3048	Calx-beta domain	Domain
PF03160	Calx-beta	3064 → 3172	Calx-beta domain	Domain
PF03736	EPTP	3395 → 3438	EPTP domain	Repeat
PF03160	Calx-beta	3582 → 3626	Calx-beta domain	Domain
PF03160	Calx-beta	3640 → 3740	Calx-beta domain	Domain
PF03160	Calx-beta	3783 → 3875	Calx-beta domain	Domain
PF03160	Calx-beta	3901 → 4006	Calx-beta domain	Domain
PF03160	Calx-beta	4020 → 4123	Calx-beta domain	Domain
PF03160	Calx-beta	4255 → 4354	Calx-beta domain	Domain
PF03160	Calx-beta	4386 → 4489	Calx-beta domain	Domain
PF03160	Calx-beta	4660 → 4735	Calx-beta domain	Domain
PF03160	Calx-beta	4996 → 5095	Calx-beta domain	Domain
PF03160	Calx-beta	5280 → 5333	Calx-beta domain	Domain
PF03160	Calx-beta	5484 → 5599	Calx-beta domain	Domain
PF00002	7tm_2	5908 → 6148	7 transmembrane receptor (Secretin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at low levels in adult tissues. {ECO:0000269|PubMed:10976914}.

Sequence

MSVFLGPGMPSASLLVNLLSALLILFVFGETEIRFTGQTEFVVNETSTTVIRLIIERIGE
PANVTAIVSLYGEDAGDFFDTYAAAFIPAGETNRTVYIAVCDDDLPEPDETFIFHLTLQK
PSANVKLGWPRTVTVTILSNDNAFGIISFNMLPSIAVSEPKGRNESMPLTLIREKGTYGM
VMVTFEVEGGPNPPDEDLSPVKGNITFPPGRATVIYNLTVLDDEVPENDEIFLIQLKSVE
GGAEINTSRNSIEIIIKKNDSPVRFLQSIYLVPEEDHILIIPVVRGKDNNGNLIGSDEYE
VSISYAVTTGNSTAHAQQNLDFIDLQPNTTVVFPPFIHESHLKFQIVDDTIPEIAESFHI
MLLKDTLQGDAVLISPSVVQVTIKPNDKPYGVLSFNSVLFERTVIIDEDRISRYEEITVV
RNGGTHGNVSANWVLTRNSTDPSPVTADIRPSSGVLHFAQGQMLATIPLTVVDDDLPEEA
EAYLLQILPHTIRGGAEVSEPAELLFYIQDSDDVYGLITFFPMENQKIESSPGERYLSLS
FTRLGGTKGDVRLLYSVLYIPAGAVDPLQAKEGILNISRRNDLIFPEQKTQVTTKLPIRN
DAFLQNGAHFLVQLETVELLNIIPLIPPISPRFGEICNISLLVTPAIANGEIGFLSNLPI
ILHEPEDFAAEVVYIPLHRDGTDGQATVYWSLKPSGFNSKAVTPDDIGPFNGSVLFLSGQ
SDTTINITIKGDDIPEMNETVTLSLDRVNVENQVLKSGYTSRDLIILENDDPGGVFEFSP
ASRGPYVIKEGESVELHIIRSRGSLVKQFLHYRVEPRDSNEFYGNTGVLEFKPGEREIVI
TLLARLDGIPELDEHYWVVLSSHGERESKLGSATIVNITILKNDDPHGIIEFVSDGLIVM
INESKGDAIYSAVYDVVRNRGNFGDVSVSWVVSPDFTQDVFPVQGTVVFGDQEFSKNITI
YSLPDEIPEEMEEFTVILLNGTGGAKVGNRTTATLRIRRNDDPIYFAEPRVVRVQEGETA
NFTVLRNGSVDVTCMVQYATKDGKATARERDFIPVEKGETLIFEVGSRQQSISIFVNEDG
IPETDEPFYIILLNSTGDTVVYQYGVATVIIEANDDPNGIFSLEPIDKAVEEGKTNAFWI
LRHRGYFGSVSVSWQLFQNDSALQPGQEFYETSGTVNFMDGEEAKPIILHAFPDKIPEFN
EFYFLKLVNISGGSPGPGGQLAETNLQVTVMVPFNDDPFGVFILDPECLEREVAEDVLSE
DDMSYITNFTILRQQGVFGDVQLGWEILSSEFPAGLPPMIDFLLVGIFPTTVHLQQHMRR
HHSGTDALYFTGLEGAFGTVNPKYHPSRNNTIANFTFSAWVMPNANTNGFIIAKDDGNGS
IYYGVKIQTNESHVTLSLHYKTLGSNATYIAKTTVMKYLEESVWLHLLIILEDGIIEFYL
DGNAMPRGIKSLKGEAITDGPGILRIGAGINGNDRFTGLMQDVRSYERKLTLEEIYELHA
MPAKSDLHPISGYLEFRQGETNKSFIISARDDNDEEGEELFILKLVSVYGGARISEENTT
ARLTIQKSDNANGLFGFTGACIPEIAEEGSTISCVVERTRGALDYVHVFYTISQIETDGI
NYLVDDFANASGTITFLPWQRSEVLNIYVLDDDIPELNEYFRVTLVSAIPGDGKLGSTPT
SGASIDPEKETTDITIKASDHPYGLLQFSTGLPPQPKDAMTLPASSVPHITVEEEDGEIR
LLVIRAQGLLGRVTAEFRTVSLTAFSPEDYQNVAGTLEFQPGERYKYIFINITDNSIPEL
EKSFKVELLNLEGGVAELFRVDGSGSGDGDMEFFLPTIHKRASLGVASQILVTIAASDHA
HGVFEFSPESLFVSGTEPEDGYSTVTLNVIRHHGTLSPVTLHWNIDSDPDGDLAFTSGNI
TFEIGQTSANITVEILPDEDPELDKAFSVSVLSVSSGSLGAHINATLTVLASDDPYGIFI
FSEKNRPVKVEEATQNITLSIIRLKGLMGKVLVSYATLDDMEKPPYFPPNLARATQGRDY
IPASGFALFGANQSEATIAISILDDDEPERSESVFIELLNSTLVAKVQSRSIPNSPRLGP
KVETIAQLIIIANDDAFGTLQLSAPIVRVAENHVGPIINVTRTGGAFADVSVKFKAVPIT
AIAGEDYSIASSDVVLLEGETSKAVPIYVINDIYPELEESFLVQLMNETTGGARLGALTE
AVIIIEASDDPYGLFGFQITKLIVEEPEFNSVKVNLPIIRNSGTLGNVTVQWVATINGQL
ATGDLRVVSGNVTFAPGETIQTLLLEVLADDVPEIEEVIQVQLTDASGGGTIGLDRIANI
IIPANDDPYGTVAFAQMVYRVQEPLERSSCANITVRRSGGHFGRLLLFYSTSDIDVVALA
MEEGQDLLSYYESPIQGVPDPLWRTWMNVSAVGEPLYTCATLCLKEQACSAFSFFSASEG
PQCFWMTSWISPAVNNSDFWTYRKNMTRVASLFSGQAVAGSDYEPVTRQWAIMQEGDEFA
NLTVSILPDDFPEMDESFLISLLEVHLMNISASLKNQPTIGQPNISTVVIALNGDAFGVF
VIYNISPNTSEDGLFVEVQEQPQTLVELMIHRTGGSLGQVAVEWRVVGGTATEGLDFIGA
GEILTFAEGETKKTVILTILDDSEPEDDESIIVSLVYTEGGSRILPSSDTVRVNILANDN
VAGIVSFQTASRSVIGHEGEILQFHVIRTFPGRGNVTVNWKIIGQNLELNFANFSGQLFF
PEGSLNTTLFVHLLDDNIPEEKEVYQVILYDVRTQGVPPAGIALLDAQGYAAVLTVEASD
EPHGVLNFALSSRFVLLQEANITIQLFINREFGSLGAINVTYTTVPGMLSLKNQTVGNLA
EPEVDFVPIIGFLILEEGETAAAINITILEDDVPELEEYFLVNLTYVGLTMAASTSFPPR
LDSEGLTAQVIIDANDGARGVIEWQQSRFEVNETHGSLTLVAQRSREPLGHVSLFVYAQN
LEAQVGLDYIFTPMILHFADGERYKNVNIMILDDDIPEGDEKFQLILTNPSPGLELGKNT
IALIIVLANDDGPGVLSFNNSEHFFLREPTALYVQESVAVLYIVREPAQGLFGTVTVQFI
VTEVNSSNESKDLTPSKGYIVLEEGVRFKALQISAILDTEPEMDEYFVCTLFNPTGGARL
GVHVQTLITVLQNQAPLGLFSISAVENRATSIDIEEANRTVYLNVSRTNGIDLAVSVQWE
TVSETAFGMRGMDVVFSVFQSFLDESASGWCFFTLENLIYGIMLRKSSVTVYRWQGIFIP
VEDLNIENPKTCEAFNIGFSPYFVITHEERNEEKPSLNSVFTFTSGFKLFLVQTIIILES
SQVRYFTSDSQDYLIIASQRDDSELTQVFRWNGGSFVLHQKLPVRGVLTVALFNKGGSVF
LAISQANARLNSLLFRWSGSGFINFQEVPVSGTTEVEALSSANDIYLIFAENVFLGDQNS
IDIFIWEMGQSSFRYFQSVDFAAVNRIHSFTPASGIAHILLIGQDMSALYCWNSERNQFS
FVLEVPSAYDVASVTVKSLNSSKNLIALVGAHSHIYELAYISSHSDFIPSSGELIFEPGE
REATIAVNILDDTVPEKEESFKVQLKNPKGGAEIGINDSVTITILSNDDAYGIVAFAQNS
LYKQVEEMEQDSLVTLNVERLKGTYGRITIAWEADGSISDIFPTSGVILFTEGQVLSTIT
LTILADNIPELSEVVIVTLTRITTEGVEDSYKGATIDQDRSKSVITTLPNDSPFGLVGWR
AASVFIRVAEPKENTTTLQLQIARDKGLLGDIAIHLRAQPNFLLHVDNQATENEDYVLQE
TIIIMKENIKEAHAEVSILPDDLPELEEGFIVTITEVNLVNSDFSTGQPSVRRPGMEIAE
IMIEENDDPRGIFMFHVTRGAGEVITAYEVPPPLNVLQVPVVRLAGSFGAVNVYWKASPD
SAGLEDFKPSHGILEFADKQVTAMIEITIIDDAEFELTETFNISLISVAGGGRLGDDVVV
TVVIPQNDSPFGVFGFEEKTVMIDESLSSDDPDSYVTLTVVRSPGGKGTVRLEWTIDEKA
KHNLSPLNGTLHFDETESQKTIVLHTLQDTVLEEDRRFTIQLISIDEVEISPVKGSASII
IRGDKRASGEVGIAPSSRHILIGEPSAKYNGTAIISLVRGPGILGEVTVFWRIFPPSVGE
FAETSGKLTMRDEQSAVIVVIQALNDDIPEEKSFYEFQLTAVSEGGVLSESSSTANITVV
ASDSPYGRFAFSHEQLRVSEAQRVNITIIRSSGDFGHVRLWYKTMSGTAEAGLDFVPAAG
ELLFEAGEMRKSLHVEILDDDYPEGPEEFSLTITKVELQGRGYDFTIQENGLQIDQPPEI
GNISIVRIIIMKNDNAEGIIEFDPKYTAFEVEEDVGLIMIPVVRLHGTYGYVTADFISQS
SSASPGGVDYILHGSTVTFQHGQNLSFINISIIDDNESEFEEPIEILLTGATGGAVLGRH
LVSRIIIAKSDSPFGVIRFLNQSKISIANPNSTMILSLVLERTGGLLGEIQVNWETVGPN
SQEALLPQNRDIADPVSGLFYFGEGEGGVRTIILTIYPHEEIEVEETFIIKLHLVKGEAK
LDSRAKDVTLTIQEFGDPNGVVQFAPETLSKKTYSEPLALEGPLLITFFVRRVKGTFGEI
MVYWELSSEFDITEDFLSTSGFFTIADGESEASFDVHLLPDEVPEIEEDYVIQLVSVEGG
AELDLEKSITWFSVYANDDPHGVFALYSDRQSILIGQNLIRSIQINITRLAGTFGDVAVG
LRISSDHKEQPIVTENAERQLVVKDGATYKVDVVPIKNQVFLSLGSNFTLQLVTVMLVGG
RFYGMPTILQEAKSAVLPVSEKAANSQVGFESTAFQLMNITAGTSHVMISRRGTYGALSV
AWTTGYAPGLEIPEFIVVGNMTPTLGSLSFSHGEQRKGVFLWTFPSPGWPEAFVLHLSGV
QSSAPGGAQLRSGFIVAEIEPMGVFQFSTSSRNIIVSEDTQMIRLHVQRLFGFHSDLIKV
SYQTTAGSAKPLEDFEPVQNGELFFQKFQTEVDFEITIINDQLSEIEEFFYINLTSVEIR
GLQKFDVNWSPRLNLDFSVAVITILDNDDLAGMDISFPETTVAVAVDTTLIPVETESTTY
LSTSKTTTILQPTNVVAIVTEATGVSAIPEKLVTLHGTPAVSEKPDVATVTANVSIHGTF
SLGPSIVYIEEEMKNGTFNTAEVLIRRTGGFTGNVSITVKTFGERCAQMEPNALPFRGIY
GISNLTWAVEEEDFEEQTLTLIFLDGERERKVSVQILDDDEPEGQEFFYVFLTNPQGGAQ
IVEEKDDTGFAAFAMVIITGSDLHNGIIGFSEESQSGLELREGAVMRRLHLIVTRQPNRA
FEDVKVFWRVTLNKTVVVLQKDGVNLVEELQSVSGTTTCTMGQTKCFISIELKPEKVPQV
EVYFFVELYEATAGAAINNSARFAQIKILESDESQSLVYFSVGSRLAVAHKKATLISLQV
ARDSGTGLMMSVNFSTQELRSAETIGRTIISPAISGKDFVITEGTLVFEPGQRSTVLDVI
LTPETGSLNSFPKRFQIVLFDPKGGARIDKVYGTANITLVSDADSQAIWGLADQLHQPVN
DDILNRVLHTISMKVATENTDEQLSAMMHLIEKITTEGKIQAFSVASRTLFYEILCSLIN
PKRKDTRGFSHFAEVTENFAFSLLTNVTCGSPGEKSKTILDSCPYLSILALHWYPQQING
HKFEGKEGDYIRIPERLLDVQDAEIMAGKSTCKLVQFTEYSSQQWFISGNNLPTLKNKVL
SLSVKGQSSQLLTNDNEVLYRIYAAEPRIIPQTSLCLLWNQAAASWLSDSQFCKVVEETA
DYVECACSHMSVYAVYARTDNLSSYNEAFFTSGFICISGLCLAVLSHIFCARYSMFAAKL
LTHMMAASLGTQILFLASAYASPQLAEESCSAMAAVTHYLYLCQFSWMLIQSVNFWYVLV
MNDEHTERRYLLFFLLSWGLPAFVVILLIVILKGIYHQSMSQIYGLIHGDLCFIPNVYAA
LFTAALVPLTCLVVVFVVFIHAYQVKPQWKAYDDVFRGRTNAAEIPLILYLFALISVTWL
WGGLHMAYRHFWMLVLFVIFNSLQGLYVFMVYFILHNQMCCPMKASYTVEMNGHPGPSTA
FFTPGSGMPPAGGEISKSTQNLIGAMEEVPPDWERASFQQGSQASPDLKPSPQNGATFPS
SGGYGQGSLIADEESQEFDDLIFALKTGAGLSVSDNESGQGSQEGGTLTDSQIVELRRIP
IADTHL

Sequence length

6306

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Febrile seizures	Febrile seizures, familial, 4	rs765574676, rs121909761	N/A
retinal dystrophy	Retinal dystrophy	rs769286352, rs796051866, rs1292664749, rs1754556067, rs777309662, rs1755688091, rs778188580, rs878853348, rs371981035, rs1758488956, rs752179149, rs769215629, rs1764301206, rs765376986, rs1307312865 View all (5 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1581312596, rs1432643009	N/A
Usher Syndrome	Usher syndrome type 2C, usher syndrome, usher syndrome type 2, usher syndrome type 1	rs527236131, rs1554090072, rs1580864592, rs527236133, rs777309662, rs764583867, rs765574676, rs796051867, rs1580905929, rs869312178, rs1581041519, rs1561660434, rs1581711527, rs1057519383, rs1554117973 View all (37 more)	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs765574676	N/A
Usher syndrome	Usher syndrome, type IIC, GPR98/PDZD7 digenic	rs1554135663	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cervical Cancer	Cervical cancer	N/A	N/A	GWAS
Epilepsy	idiopathic generalized epilepsy	N/A	N/A	ClinVar
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Melanoma	Melanoma	N/A	N/A	GWAS
Meniere Disease	meniere disease	N/A	N/A	ClinVar
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Osteoporosis	Osteoporosis	N/A	N/A	GWAS
Ovarian cancer	Epithelial ovarian cancer	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36793937
Alzheimer Disease	Associate	35630584
Breast Neoplasms	Associate	40473728
Carcinogenesis	Associate	40473728
Ciliary Motility Disorders	Associate	28927820
Deaf Blind Disorders	Associate	31046701, 35630584
Deafness	Associate	23767834, 23967202, 25719458, 32048449, 34997062, 35062939
DiGeorge Syndrome	Associate	29025761
Epilepsy	Associate	19471318, 29261713, 35630584, 36399868
Epilepsy Rolandic	Associate	36399868
Fatty Liver Alcoholic	Associate	36223880
Febrile Seizures Associated with Afebrile Seizures	Associate	36399868
Frasier Syndrome	Associate	36399868
Glioblastoma	Associate	23206951
Hearing Loss	Associate	19357116, 25743181, 31046701, 35062939
Hypertensive Retinopathy	Associate	34638692
Ige Responsiveness Atopic	Associate	28927820
Lymphatic Metastasis	Associate	36793937
Meniere Disease	Associate	34391192
Mood Disorders	Associate	18854872
Motor Neuron Disease	Associate	35630584
Neoplasm Metastasis	Associate	40473728
Neoplasms	Associate	40473728
Night Blindness	Associate	34638692
Nonsyndromic Deafness	Associate	19357116
Obesity	Associate	36223880
Ovarian Neoplasms	Associate	35735060
Retinitis	Associate	20440071
Retinitis Pigmentosa	Associate	19357116, 26338283, 32050993, 34638692
Seizures	Associate	14740321, 19471318, 33831796
Spasm	Associate	33831796
Spasms Infantile	Associate	36399868
Syndrome	Associate	18854872, 33831796
Tetralogy of Fallot	Associate	29025761
Usher syndrome type 2A	Associate	20440071
Usher syndrome type 2C	Associate	19357116, 29890953
Usher Syndrome Type IF	Associate	23441107, 25743181, 34638692
Usher Syndromes	Associate	14740321, 19357116, 22135276, 25211151, 25404053, 26338283, 29890953, 31046701, 34148116, 35630584, 35779349, 36011334
Vision Disorders	Associate	25743181, 37466950

ADGRV1 (adhesion G protein-coupled receptor V1)