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ADGRV1 (adhesion G protein-coupled receptor V1)

Identity

Alias (NCBI)FEB4
GPR98
MASS1
USH2B
USH2C
VLGR1
VLGR1b
HGNC (Hugo) ADGRV1
HGNC Alias symbDKFZp761P0710
KIAA0686
FEB4
VLGR1
HGNC Previous nameUSH2C
 MASS1
 GPR98
HGNC Previous namemonogenic, audiogenic seizure susceptibility 1 homolog (mouse)
 G protein-coupled receptor 98
LocusID (NCBI) 84059
Atlas_Id 55517
Location 5q14.3  [Link to chromosome band 5q14]
Location_base_pair Starts at 90558797 and ends at 91164437 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADGRV1 (5q14.3)::ATR (3q23)ADGRV1 (5q14.3)::FBXO34 (14q22.3)GCN1 (12q24.23)::ADGRV1 (5q14.3)
PJA2 (5q21.3)::ADGRV1 (5q14.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ADGRV1   17416
LRG (Locus Reference Genomic)LRG_1095
Cards
Entrez_Gene (NCBI)ADGRV1    adhesion G protein-coupled receptor V1
AliasesFEB4; GPR98; MASS1; USH2B; 
USH2C; VLGR1; VLGR1b
GeneCards (Weizmann)ADGRV1
Ensembl hg19 (Hinxton)ENSG00000164199 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164199 [Gene_View]  ENSG00000164199 [Sequence]  chr5:90558797-91164437 [Contig_View]  ADGRV1 [Vega]
ICGC DataPortalENSG00000164199
TCGA cBioPortalADGRV1
AceView (NCBI)ADGRV1
Genatlas (Paris)ADGRV1
SOURCE (Princeton)ADGRV1
Genetics Home Reference (NIH)ADGRV1
Genomic and cartography
GoldenPath hg38 (UCSC)ADGRV1  -     chr5:90558797-91164437 +  5q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ADGRV1  -     5q14.3   [Description]    (hg19-Feb_2009)
GoldenPathADGRV1 - 5q14.3 [CytoView hg19]  ADGRV1 - 5q14.3 [CytoView hg38]
ImmunoBaseENSG00000164199
Genome Data Viewer NCBIADGRV1 [Mapview hg19]  
OMIM602851   604352   605472   
Gene and transcription
Genbank (Entrez)AB014586 AB075823 AF055084 AF435925 AK024416
RefSeq transcript (Entrez)NM_032119
Consensus coding sequences : CCDS (NCBI)ADGRV1
Gene ExpressionADGRV1 [ NCBI-GEO ]   ADGRV1 [ EBI - ARRAY_EXPRESS ]   ADGRV1 [ SEEK ]   ADGRV1 [ MEM ]
Gene Expression Viewer (FireBrowse)ADGRV1 [ Firebrowse - Broad ]
GenevisibleExpression of ADGRV1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84059
GTEX Portal (Tissue expression)ADGRV1
Human Protein AtlasENSG00000164199-ADGRV1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXG9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXG9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXG9
PhosPhoSitePlusQ8WXG9
Domaine pattern : Prosite (Expaxy)EAR (PS50912)    G_PROTEIN_RECEP_F2_4 (PS50261)    GPS (PS50221)   
Domains : Interpro (EBI)ADGRV1    CalX-like_sf    Calx_beta    ConA-like_dom_sf    EAR    EPTP    GPCR_2-like    GPCR_2_secretin-like    GPS   
Domain families : Pfam (Sanger)7tm_2 (PF00002)    Calx-beta (PF03160)    EPTP (PF03736)   
Domain families : Pfam (NCBI)pfam00002    pfam03160    pfam03736   
Domain families : Smart (EMBL)Calx_beta (SM00237)  
Conserved Domain (NCBI)ADGRV1
SuperfamilyQ8WXG9
AlphaFold pdb e-kbQ8WXG9   
Human Protein Atlas [tissue]ENSG00000164199-ADGRV1 [tissue]
HPRD09111
Protein Interaction databases
DIP (DOE-UCLA)Q8WXG9
IntAct (EBI)Q8WXG9
BioGRIDADGRV1
STRING (EMBL)ADGRV1
ZODIACADGRV1
Ontologies - Pathways
QuickGOQ8WXG9
Ontology : AmiGOphotoreceptor inner segment  G-protein alpha-subunit binding  stereocilia ankle link  stereocilia ankle link complex  G protein-coupled receptor activity  G protein-coupled receptor activity  calcium ion binding  protein binding  cytoplasm  plasma membrane  cell surface receptor signaling pathway  G protein-coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  nervous system development  visual perception  sensory perception of sound  cell surface  positive regulation of protein kinase A signaling  adenylate cyclase inhibitor activity  membrane  integral component of membrane  hydrolase activity  positive regulation of bone mineralization  regulation of protein stability  receptor complex  establishment of protein localization  synapse  photoreceptor cell maintenance  maintenance of animal organ identity  inner ear development  nervous system process  detection of mechanical stimulus involved in sensory perception of sound  sensory perception of light stimulus  inner ear receptor cell stereocilium organization  stereocilium membrane  extracellular exosome  cellular response to calcium ion  positive regulation of protein kinase C signaling  self proteolysis  cell-cell adhesion  periciliary membrane compartment  USH2 complex  
Ontology : EGO-EBIphotoreceptor inner segment  G-protein alpha-subunit binding  stereocilia ankle link  stereocilia ankle link complex  G protein-coupled receptor activity  G protein-coupled receptor activity  calcium ion binding  protein binding  cytoplasm  plasma membrane  cell surface receptor signaling pathway  G protein-coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  nervous system development  visual perception  sensory perception of sound  cell surface  positive regulation of protein kinase A signaling  adenylate cyclase inhibitor activity  membrane  integral component of membrane  hydrolase activity  positive regulation of bone mineralization  regulation of protein stability  receptor complex  establishment of protein localization  synapse  photoreceptor cell maintenance  maintenance of animal organ identity  inner ear development  nervous system process  detection of mechanical stimulus involved in sensory perception of sound  sensory perception of light stimulus  inner ear receptor cell stereocilium organization  stereocilium membrane  extracellular exosome  cellular response to calcium ion  positive regulation of protein kinase C signaling  self proteolysis  cell-cell adhesion  periciliary membrane compartment  USH2 complex  
NDEx NetworkADGRV1
Atlas of Cancer Signalling NetworkADGRV1
Wikipedia pathwaysADGRV1
Orthology - Evolution
OrthoDB84059
GeneTree (enSembl)ENSG00000164199
Phylogenetic Trees/Animal Genes : TreeFamADGRV1
Homologs : HomoloGeneADGRV1
Homology/Alignments : Family Browser (UCSC)ADGRV1
Gene fusions - Rearrangements
Fusion : QuiverADGRV1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADGRV1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADGRV1
dbVarADGRV1
ClinVarADGRV1
MonarchADGRV1
1000_GenomesADGRV1 
Exome Variant ServerADGRV1
GNOMAD BrowserENSG00000164199
Varsome BrowserADGRV1
ACMGADGRV1 variants
VarityQ8WXG9
Genomic Variants (DGV)ADGRV1 [DGVbeta]
DECIPHERADGRV1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisADGRV1 
Mutations
ICGC Data PortalADGRV1 
TCGA Data PortalADGRV1 
Broad Tumor PortalADGRV1
OASIS PortalADGRV1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADGRV1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DADGRV1
Mutations and Diseases : HGMDADGRV1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaADGRV1
DgiDB (Drug Gene Interaction Database)ADGRV1
DoCM (Curated mutations)ADGRV1
CIViC (Clinical Interpretations of Variants in Cancer)ADGRV1
Cancer3DADGRV1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602851    604352    605472   
Orphanet19168   
DisGeNETADGRV1
MedgenADGRV1
Genetic Testing Registry ADGRV1
NextProtQ8WXG9 [Medical]
GENETestsADGRV1
Target ValidationADGRV1
Huge Navigator ADGRV1 [HugePedia]
ClinGenADGRV1
Clinical trials, drugs, therapy
MyCancerGenomeADGRV1
Protein Interactions : CTDADGRV1
Pharm GKB GenePA134960779
PharosQ8WXG9
Clinical trialADGRV1
Miscellaneous
canSAR (ICR)ADGRV1
HarmonizomeADGRV1
ARCHS4ADGRV1
DataMed IndexADGRV1
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXADGRV1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jan 17 15:13:46 CET 2022

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