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 2... See more...

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
  • Adhesion G-Protein Coupled Receptor V1 3 4
  • Usher Syndrome Type-2C Protein 3 4
  • G-Protein Coupled Receptor 98 3 4
  • GPR98 3 4
  • MASS1 3 4
  • VLGR1 3 4
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog (Mouse) 2
  • G Protein-Coupled Receptor 98 2
  • EC 3.4.-.- 4
  • KIAA0686 4
  • KIAA1943 4
  • VLGR1b 3
  • USH2B 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 FREM2.

UniProtKB/Swiss-Prot Summary for ADGRV1 Gene

  • 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) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism.
  • Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.

Gene Wiki entry for ADGRV1 Gene

Additional gene information for ADGRV1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J090558 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.3 +29.9 29857 3.6 SREBF1 ZBTB6 CTBP1 ZNF362 ZNF121 MNT SP1 ZFX SP7 ZSCAN21 ADGRV1 LYSMD3 ARRDC3 CETN3 POLR3G piR-40476-058
GH05J090527 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.2 -213 3.9 SP1 ZBTB40 CTCF LCORL SMARCE1 POLR2A ATF1 CREB1 MIXL1 RUNX1 LYSMD3 ADGRV1 LINC01339 ENSG00000214942 POLR3G ARRDC3 MBLAC2
GH05J090439 Promoter/Enhancer 1 ENCODE CraniofacialAtlas 11.8 -89.4 -89350 0.9 CTCF ZNF362 L3MBTL2 RAD21 ZNF384 ZNF639 IKZF1 REST ZNF512 TRIM22 ADGRV1 LYSMD3 POLR3G MBLAC2 LOC731157 CETN3 piR-49406-012 piR-37750-003 lnc-POLR3G-9
GH05J090548 Enhancer 1.1 Ensembl ENCODE 9.3 +18.3 18257 2.4 ZNF362 L3MBTL2 MNT RERE ZBTB33 MAFK CEBPG SP7 ZSCAN21 PRDM1 POLR3G ADGRV1 LYSMD3 piR-40476-058
GH05J090639 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 5.3 +113.2 113217 7.1 ZBTB40 SMARCE1 CC2D1A ELF1 L3MBTL2 DACH1 TEAD4 ZC3H8 ZKSCAN8 GTF2F1 POLR3G ADGRV1 piR-33432-417 MG828730-056
- 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
chr5:90,529,344-91,164,437
(GRCh38/hg38)
Size:
635,094 bases
Orientation:
Plus strand
chr5:89,825,161-90,460,038
(GRCh37/hg19)
Size:
634,878 bases
Orientation:
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:
    Q8WXG9-AGRV1_HUMAN
    Recommended name:
    Adhesion G-protein coupled receptor V1
    Protein Accession:
    Q8WXG9
    Secondary Accessions:
    • O75171
    • Q8TF58
    • Q9H0X5
    • Q9UL61

    Protein attributes for ADGRV1 Gene

    Size:
    6306 amino acids
    Molecular mass:
    693069 Da
    Quaternary structure:
    • Forms a heterodimer, consisting of a large extracellular region (alpha subunit) non-covalently linked to a seven-transmembrane moiety (beta subunit) (By similarity). Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts with USH2A and WHRN (PubMed:16434480). Interacts (via the cytoplasmic region) with PDZD7 (PubMed:20440071). Interacts (via the cytoplasmic region) with MYO7A (via MyTH4-FERM domains) (By similarity).
    Miscellaneous:
    • By far is the largest known cell surface protein.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRV1 Gene

Post-translational modifications for ADGRV1 Gene

  • Autoproteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit.
  • Glycosylation at Asn2139 and Asn3224
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • AGRV1_HUMAN (1289)

No data available for DME Specific Peptides for ADGRV1 Gene

Domains & Families for ADGRV1 Gene

Gene Families for ADGRV1 Gene

HGNC:
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:
  • Very large G-protein coupled receptor 1 (GPR98_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXG9

UniProtKB/Swiss-Prot:

AGRV1_HUMAN :
  • The 7 transmembrane domain is required in hair cells for the hair bundle ankle formation.
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Domain:
  • The 7 transmembrane domain is required in hair cells for the hair bundle ankle formation.
Family:
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) 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:
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) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism.
UniProtKB/Swiss-Prot Function:
Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.

Enzyme Numbers (IUBMB) for ADGRV1 Gene

Phenotypes From GWAS Catalog for ADGRV1 Gene

Gene Ontology (GO) - Molecular Function for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding ISS --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G protein-coupled receptor activity IEA,NAS 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

CRISPR Products

miRNA for ADGRV1 Gene

miRTarBase miRNAs that target ADGRV1

No data available for 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. Cell projection, stereocilium membrane. Photoreceptor inner segment. Note=Localizes at the ankle region of the stereocilia. In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex. {ECO:0000250 UniProtKB:Q8VHN7}.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 1
nucleus 1
cytosol 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:0001917 photoreceptor inner segment IEA --
GO:0002141 stereocilia ankle link ISS --
GO:0002142 stereocilia ankle link complex ISS --
GO:0005737 cytoplasm IDA 16434480
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with ADGRV1: view

Pathways & Interactions for ADGRV1 Gene

PathCards logo

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:0007194 negative regulation of adenylate cyclase activity IEA,ISS --
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

CRISPR 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: -
SP2:
SP3:
SP4:

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 ^
SP1:
SP2:
SP3:
SP4:

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: - -
SP2:
SP3:
SP4:

ExUns: 76 ^ 77 ^ 78 ^ 79a · 79b ^ 80 ^ 81 ^ 82 ^ 83 ^ 84 ^ 85 ^ 86 ^ 87 ^ 88 ^ 89 ^
SP1:
SP2:
SP3: - -
SP4:

Relevant External Links for ADGRV1 Gene

GeneLoc Exon Structure for
ADGRV1
ECgene alternative splicing isoforms for
ADGRV1

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:

ADGRV1

mRNA Expression by UniProt/SwissProt for ADGRV1 Gene:

Q8WXG9-AGRV1_HUMAN
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
Systems:
  • immune
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia GPR98 33 32
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPR98 33 32
  • 89.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPR98 33 32
  • 87.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gpr98 33 32
  • 82.49 (n)
OneToOne
Adgrv1 17
rat
(Rattus norvegicus)
Mammalia RGD1562101 32
  • 82.01 (n)
oppossum
(Monodelphis domestica)
Mammalia GPR98 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR98 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR98 33 32
  • 71.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPR98 33
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr98 32
  • 64.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8698 32
zebrafish
(Danio rerio)
Actinopterygii gpr98 33 32
  • 57.78 (n)
OneToMany
GPR98 (2 of 2) 33
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ncx-3 33
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 19 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ADGRV1 (if available)
TreeFam:
Gene Tree for ADGRV1 (if available)
Aminode:
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
rs10037067 benign, not specified, - 90,690,065(+) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10067298 benign, not specified, not provided 90,676,112(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs10067636 benign, not specified, not provided, - 90,725,218(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
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

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)
ADGRV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADGRV1

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

Disorders for ADGRV1 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

AGRV1_HUMAN
  • 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 23 56
  2. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J … Schiöth HB (Pharmacological reviews 2015) 2 3 4 56
  3. 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 23 56
  4. 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 23 56
  5. 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 23 56

Products for ADGRV1 Gene

Sources for ADGRV1 Gene