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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
  • G Protein-Coupled Receptor 98 2 3
  • GPR98 3 4
  • MASS1 3 4
  • VLGR1 3 4
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog (Mouse) 2
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog 3
  • Very Large G Protein-Coupled Receptor 1 3
  • 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 2C and Febrile Seizures, Familial, 4. Among its related pathways are GPCRs, Other. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is SLC8A3.

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

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

Genomics for ADGRV1 Gene

Regulatory Elements for ADGRV1 Gene

Enhancers for ADGRV1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADGRV1 on UCSC Golden Path with GeneCards custom track

Promoters for ADGRV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADGRV1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADGRV1 Gene

Chromosome:
5
Start:
90,529,344 bp from pter
End:
91,164,223 bp from pter
Size:
634,880 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-GPR98_HUMAN
    Recommended name:
    G-protein coupled receptor 98
    Protein Accession:
    Q8WXG9
    Secondary Accessions:
    • O75171
    • Q8TF58
    • Q9H0X5
    • Q9UL61

    Protein attributes for ADGRV1 Gene

    Size:
    6306 amino acids
    Molecular mass:
    693069 Da
    Quaternary structure:
    • Interacts with WHRN. Interacts with PDZD7.
    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

Proteomics data for ADGRV1 Gene at MOPED

Post-translational modifications for ADGRV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ADGRV1 Gene

No data available for DME Specific Peptides for ADGRV1 Gene

Domains & Families for ADGRV1 Gene

Suggested Antigen Peptide Sequences for ADGRV1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXG9

UniProtKB/Swiss-Prot:

GPR98_HUMAN :
  • Contains 35 Calx-beta domains.
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
  • Contains 6 EAR repeats.
Domain:
  • Contains 35 Calx-beta domains.
  • Contains 1 GPS domain.
Family:
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Similarity:
  • Contains 6 EAR repeats.
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.

Gene Ontology (GO) - Molecular Function for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 10976914
GO:0005515 protein binding IPI 20440071
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

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.

Gene Ontology (GO) - Cellular Components for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,NAS 11606593
GO:0016021 integral component of membrane IEA --
GO:0032420 stereocilium IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with ADGRV1: view

No data available for Subcellular locations from COMPARTMENTS for ADGRV1 Gene

Pathways & Interactions for ADGRV1 Gene

SuperPathways for ADGRV1 Gene

Superpath 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

Interacting Proteins for ADGRV1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000384582%0d%0a9606.ENSP00000410083%0d%0a9606.ENSP00000354623%0d%0a9606.ENSP00000305941%0d%0a9606.ENSP00000334499%0d%0a
Selected Interacting proteins: ENSP00000384582 for ADGRV1 Gene via STRING

Gene Ontology (GO) - Biological Process for ADGRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA --
GO:0016337 single organismal cell-cell adhesion NAS 11606593
GO:0045494 photoreceptor cell maintenance IMP 14740321
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

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



mRNA Expression by UniProt/SwissProt for ADGRV1 Gene

Q8WXG9-GPR98_HUMAN
Tissue specificity: Expressed at low levels in adult tissues.
genes like me logo Genes that share expression patterns with ADGRV1: view

Primer Products

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
cow
(Bos Taurus)
Mammalia GPR98 35
  • 87.65 (n)
  • 85.82 (a)
GPR98 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPR98 35
  • 89.59 (n)
  • 88.38 (a)
GPR98 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpr98 35
  • 82.49 (n)
  • 80.55 (a)
Adgrv1 16
Gpr98 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPR98 35
  • 99.47 (n)
  • 98.92 (a)
GPR98 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562101 35
  • 82.01 (n)
  • 79.95 (a)
oppossum
(Monodelphis domestica)
Mammalia GPR98 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR98 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR98 35
  • 71.03 (n)
  • 66.61 (a)
GPR98 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPR98 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr98 35
  • 64.26 (n)
  • 59.27 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8698 35
zebrafish
(Danio rerio)
Actinopterygii gpr98 35
  • 57.78 (n)
  • 52.88 (a)
gpr98 36
  • 53 (a)
OneToMany
GPR98 (2 of 2) 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ncx-3 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
ManyToMany
Species with no ortholog for ADGRV1:
  • 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)

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 Sequence Context AA Info Type
rs715668 -- 90,955,535(+) ACACA(C/G)AATAT intron-variant
rs750275 -- 90,760,583(+) CAATG(A/G)GTTTA intron-variant
rs764212 -- 90,705,942(-) GACCT(C/G)AGGGG intron-variant
rs27196 -- 90,599,202(-) ATACT(A/T)TATTG intron-variant
rs27197 -- 90,598,747(-) ATCAC(A/C/G)CTGGC intron-variant

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)

Relevant External Links for ADGRV1 Gene

Human Gene Mutation Database (HGMD)
ADGRV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ADGRV1 Gene

Disorders for ADGRV1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
usher syndrome, type 2c
  • usher syndrome, type 2c, gpr98/pdzd7 digenic
febrile seizures, familial, 4
  • familial febrile convulsions 4
usher syndrome type ii
  • ush2
usher syndrome
  • deafness-retinitis pigmentosa syndrome
extracranial neuroblastoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GPR98_HUMAN
  • 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.
  • 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.

Relevant External Links for ADGRV1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.D. … Kimberling W.J. (Am. J. Hum. Genet. 2004) 2 3 4 23 67
  2. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J. … SchiAPth H.B. (Pharmacol. Rev. 2015) 2 3
  3. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (PMID: 20440071) Ebermann I. … Bolz H.J. (J. Clin. Invest. 2010) 3 23
  4. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. (PMID: 18854872) Hmani-Aifa M. … Ayadi H. (Eur. J. Hum. Genet. 2009) 3 23
  5. 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. (Hum. Mol. Genet. 2006) 3 23

Products for ADGRV1 Gene

Sources for ADGRV1 Gene

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