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Aliases for ADGRV1 Gene

Aliases for ADGRV1 Gene

  • Adhesion G Protein-Coupled Receptor V1 2 3 5
  • Monogenic Audiogenic Seizure Susceptibility Protein 1 Homolog 3 4
  • Very Large G-Protein Coupled Receptor 1 3 4
  • Usher Syndrome Type-2C Protein 3 4
  • MASS1 3 4
  • VLGR1 3 4
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog (Mouse) 2
  • G-Protein Coupled Receptor 98 3
  • G Protein-Coupled Receptor 98 2
  • KIAA0686 4
  • KIAA1943 4
  • VLGR1b 3
  • USH2B 3
  • GPR98 3
  • USH2C 3
  • FEB4 3

External Ids for ADGRV1 Gene

Previous HGNC Symbols for ADGRV1 Gene

  • USH2C
  • MASS1
  • GPR98

Summaries for ADGRV1 Gene

Entrez Gene Summary for ADGRV1 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 syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADGRV1 Gene

ADGRV1 (Adhesion G Protein-Coupled Receptor V1) is a Protein Coding gene. Diseases associated with ADGRV1 include Usher Syndrome, Type Iic and Febrile Seizures, Familial, 4. Among its related pathways are GPCRs, Other. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is SLC8A1.

UniProtKB/Swiss-Prot for ADGRV1 Gene

  • Receptor that may have an important role in the development of the central nervous system.

Gene Wiki entry for ADGRV1 Gene

Additional gene information for ADGRV1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRV1 Gene

Genomics for ADGRV1 Gene

GeneHancer (GH) Regulatory Elements for ADGRV1 Gene

Promoters and enhancers for ADGRV1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J090527 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 133 3.2 HDGF FOXA2 PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 LYSMD3 ADGRV1 LINC01339 ENSG00000214942 POLR3G
GH05J090557 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.3 +29.3 29342 1.5 CLOCK SIN3A ZNF2 ZBTB7B ZNF213 ZNF143 KLF13 SP3 REST SREBF1 ADGRV1 ARRDC3 LYSMD3 POLR3G LOC105379077
GH05J090439 Enhancer 1 Ensembl ENCODE 11.8 -89.3 -89268 1 MEIS2 CTCF NFATC3 ZNF384 ZNF644 RAD21 YY1 ZNF366 BRD9 ZNF143 ADGRV1 LYSMD3 POLR3G MBLAC2 CETN3 LOC731157
GH05J090639 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.3 +113.2 113217 7.1 PKNOX1 SMAD1 FOXA2 ARNT SIN3A POLR2B ZNF766 FOS ZNF592 MEF2D POLR3G ADGRV1 LOC105379077 LYSMD3
GH05J090982 Enhancer 1.2 Ensembl ENCODE 5.5 +453.9 453913 1.9 PKNOX1 SMAD1 FOXA2 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 ADGRV1 TMEM251P1 GC05P090774
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADGRV1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADGRV1 Gene

Genomic Locations for ADGRV1 Gene
635,094 bases
Plus strand
634,878 bases
Plus strand

Genomic View for ADGRV1 Gene

Genes around ADGRV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRV1 Gene

Proteins for ADGRV1 Gene

  • Protein details for ADGRV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    G-protein coupled receptor 98
    Protein Accession:
    Secondary Accessions:
    • O75171
    • Q8TF58
    • Q9H0X5
    • Q9UL61

    Protein attributes for ADGRV1 Gene

    6306 amino acids
    Molecular mass:
    693069 Da
    Quaternary structure:
    • Interacts with WHRN. Interacts with PDZD7.
    • By far is the largest known cell surface protein.
    • Sequence=AAL30811.1; Type=Frameshift; Positions=3524, 3532; Evidence={ECO:0000305}; Sequence=CAB66476.2; Type=Erroneous translation; Note=Wrong genetic code use for translating the sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for ADGRV1 Gene


neXtProt entry for ADGRV1 Gene

Post-translational modifications for ADGRV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADGRV1 Gene

Domains & Families for ADGRV1 Gene

Gene Families for ADGRV1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Suggested Antigen Peptide Sequences for ADGRV1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
genes like me logo Genes that share domains with ADGRV1: view

Function for ADGRV1 Gene

Molecular function for ADGRV1 Gene

UniProtKB/Swiss-Prot Function:
Receptor that may have an important role in the development of the central nervous system.

Phenotypes From GWAS Catalog for ADGRV1 Gene

Gene Ontology (GO) - Molecular Function for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity NAS,IEA 11606593
GO:0005509 calcium ion binding IDA 10976914
GO:0005515 protein binding IPI 16301216
genes like me logo Genes that share ontologies with ADGRV1: view
genes like me logo Genes that share phenotypes with ADGRV1: view

Human Phenotype Ontology for ADGRV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADGRV1 Gene

MGI Knock Outs for ADGRV1:

Animal Model Products

miRNA for ADGRV1 Gene

miRTarBase miRNAs that target ADGRV1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADGRV1 Gene

Localization for ADGRV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRV1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADGRV1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16434480
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IDA 10976914
GO:0016020 membrane NAS,IEA 11606593
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADGRV1: view

Pathways & Interactions for ADGRV1 Gene

SuperPathways for ADGRV1 Gene

SuperPathway Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with ADGRV1: view

Pathways by source for ADGRV1 Gene

1 BioSystems pathway for ADGRV1 Gene

Gene Ontology (GO) - Biological Process for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007399 nervous system development NAS 11606593
genes like me logo Genes that share ontologies with ADGRV1: view

No data available for SIGNOR curated interactions for ADGRV1 Gene

Drugs & Compounds for ADGRV1 Gene

No Compound Related Data Available

Transcripts for ADGRV1 Gene

mRNA/cDNA for ADGRV1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRV1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^

ExUns: 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^ 71a · 71b ^ 72a · 72b ^ 73 ^ 74 ^ 75 ^
SP1: - -

ExUns: 76 ^ 77 ^ 78 ^ 79a · 79b ^ 80 ^ 81 ^ 82 ^ 83 ^ 84 ^ 85 ^ 86 ^ 87 ^ 88 ^ 89 ^
SP3: - -

Relevant External Links for ADGRV1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADGRV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRV1 Gene

This gene is overexpressed in Urinary Bladder (24.2), Esophagus (20.9), and Colon muscle (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADGRV1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADGRV1 Gene:


mRNA Expression by UniProt/SwissProt for ADGRV1 Gene:

Tissue specificity: Expressed at low levels in adult tissues.

Evidence on tissue expression from TISSUES for ADGRV1 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADGRV1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • immune
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ADGRV1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADGRV1 Gene

Orthologs for ADGRV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADGRV1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GPR98 34 33
  • 99.47 (n)
(Canis familiaris)
Mammalia GPR98 34 33
  • 89.59 (n)
(Bos Taurus)
Mammalia GPR98 34 33
  • 87.65 (n)
(Mus musculus)
Mammalia Gpr98 34 33
  • 82.49 (n)
Adgrv1 16
(Rattus norvegicus)
Mammalia RGD1562101 33
  • 82.01 (n)
(Monodelphis domestica)
Mammalia GPR98 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia GPR98 34
  • 71 (a)
(Gallus gallus)
Aves GPR98 34 33
  • 71.03 (n)
(Anolis carolinensis)
Reptilia GPR98 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr98 33
  • 64.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8698 33
(Danio rerio)
Actinopterygii gpr98 34 33
  • 57.78 (n)
GPR98 (2 of 2) 34
  • 56 (a)
(Caenorhabditis elegans)
Secernentea ncx-3 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
Species where no ortholog for ADGRV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADGRV1 Gene

Gene Tree for ADGRV1 (if available)
Gene Tree for ADGRV1 (if available)
Evolutionary constrained regions (ECRs) for ADGRV1: view image

Paralogs for ADGRV1 Gene

Paralogs for ADGRV1 Gene

genes like me logo Genes that share paralogs with ADGRV1: view

Variants for ADGRV1 Gene

Sequence variations from dbSNP and Humsavar for ADGRV1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1057519383 likely-pathogenic, Usher syndrome, type 1 90,790,948(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060499795 pathogenic, Usher syndrome, type 2C 90,728,933(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060499796 pathogenic, Usher syndrome, type 2C 90,644,869(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs111033452 likely-benign, conflicting-interpretations-of-pathogenicity, not specified 90,693,932(+) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs111033470 benign, not specified, not provided 90,692,732(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADGRV1 Gene

Variant ID Type Subtype PubMed ID
dgv3123n106 CNV deletion 24896259
dgv5715n100 CNV loss 25217958
dgv9934n54 CNV loss 21841781
esv1230251 CNV deletion 17803354
esv2380444 CNV deletion 18987734
esv2582955 CNV deletion 19546169
esv2730453 CNV deletion 23290073
esv2897 CNV loss 18987735
esv3292274 CNV deletion 24192839
esv3304683 CNV mobile element insertion 20981092
esv3309248 CNV mobile element insertion 20981092
esv3344808 CNV insertion 20981092
esv3359111 CNV insertion 20981092
esv3372734 CNV insertion 20981092
esv3432222 CNV insertion 20981092
esv3450005 CNV insertion 20981092
esv3566261 CNV deletion 23714750
esv3570249 CNV loss 25503493
esv3605772 CNV loss 21293372
esv3890670 CNV gain 25118596
esv5955 CNV loss 19470904
nsv1015449 CNV gain 25217958
nsv1031718 CNV loss 25217958
nsv1128916 CNV duplication 24896259
nsv1149648 CNV deletion 26484159
nsv328817 CNV deletion 16902084
nsv462247 CNV loss 19166990
nsv474943 CNV novel sequence insertion 20440878
nsv477705 CNV novel sequence insertion 20440878
nsv4913 CNV insertion 18451855
nsv515529 CNV loss 19592680
nsv517049 CNV gain+loss 19592680
nsv522663 CNV loss 19592680
nsv956455 CNV deletion 24416366

Variation tolerance for ADGRV1 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 35.13; 99.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADGRV1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADGRV1 Gene

Disorders for ADGRV1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ADGRV1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type iic
  • ush2c
febrile seizures, familial, 4
  • feb4
usher syndrome
  • retinitis pigmentosa-deafness syndrome
usher syndrome type 2
  • ush2
retinitis pigmentosa-deafness syndrome
  • retinitis pigmentosa 8, formerly; rp8, formerly
- elite association - COSMIC cancer census association via MalaCards


  • Usher syndrome 2C (USH2C) [MIM:605472]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269 PubMed:14740321, ECO:0000269 PubMed:22147658}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Febrile seizures, familial, 4 (FEB4) [MIM:604352]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADGRV1

genes like me logo Genes that share disorders with ADGRV1: view

No data available for Genatlas for ADGRV1 Gene

Publications for ADGRV1 Gene

  1. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. (PMID: 14740321) Weston MD … Kimberling WJ (American journal of human genetics 2004) 2 3 4 22 58
  2. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (PMID: 20440071) Ebermann I … Bolz HJ (The Journal of clinical investigation 2010) 3 4 22 58
  3. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. (PMID: 16434480) van Wijk E … Kremer H (Human molecular genetics 2006) 3 4 22 58
  4. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. (PMID: 12402266) Nakayama J … Ptácek LJ (Annals of neurology 2002) 3 4 22 58
  5. Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. (PMID: 10976914) Nikkila H … White PC (Molecular endocrinology (Baltimore, Md.) 2000) 2 3 4 58

Products for ADGRV1 Gene

Sources for ADGRV1 Gene

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