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Aliases for ADGRV1 Gene

Aliases for ADGRV1 Gene

  • Adhesion G Protein-Coupled Receptor V1 2 3
  • GPR98 3 4 6
  • MASS1 3 4 6
  • VLGR1 3 4 6
  • 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
  • KIAA0686 4 6
  • USH2C 3 6
  • FEB4 3 6
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog (Mouse) 2
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog 3
  • Very Large G Protein-Coupled Receptor 1 3
  • G-Protein Coupled Receptor 98 3
  • KIAA1943 4
  • VLGR1b 3
  • USH2B 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. Among its related pathways are GPCRs, Other. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADGRV1 Gene

Start:
90,529,344 bp from pter
End:
91,164,221 bp from pter
Size:
634,878 bases
Orientation:
Plus strand

Genomic View for ADGRV1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADGRV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRV1 Gene

No data available for Regulatory Elements 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 for ADGRV1 Gene

Gene Families for ADGRV1 Gene

HGNC:
  • GPCRBO :GPCR / Class B : Orphans

Graphical View of Domain Structure for InterPro Entry

Q8WXG9

UniProtKB/Swiss-Prot:

GPR98_HUMAN :
  • Q8WXG9
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

No data available for Suggested Antigen Peptide Sequences for ADGRV1 Gene

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:0004888 transmembrane signaling receptor activity --
GO:0004930 G-protein coupled receptor activity NAS 11606593
GO:0005509 calcium ion binding IDA 10976914
GO:0005515 protein binding IPI 20440071
GO:0017022 myosin binding IEA --
genes like me logo Genes that share ontologies with ADGRV1: view
genes like me logo Genes that share phenotypes with ADGRV1: view

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 Targeting 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:0002142 stereocilia ankle link complex IEA --
GO:0005737 cytoplasm IDA 16434480
GO:0005886 plasma membrane --
GO:0009986 cell surface IDA 10976914
GO:0016020 membrane NAS 11606593
genes like me logo Genes that share ontologies with ADGRV1: view

No data available for Subcellular locations from COMPARTMENTS for ADGRV1 Gene

Pathways 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 --
GO:0007166 cell surface receptor signaling pathway --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007218 neuropeptide signaling pathway --
GO:0007399 nervous system development NAS 11606593
genes like me logo Genes that share ontologies with ADGRV1: view

Transcripts for ADGRV1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADGRV1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ADGRV1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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

Integrated Proteomics: protein expression 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.

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.47 (n)
  • 98.92 (a)
GPR98 36
  • 99 (a)
OneToOne
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)
Gpr98 16
Gpr98 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPR98 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR98 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562101 35
  • 82.01 (n)
  • 79.95 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.8698 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr98 35
  • 64.26 (n)
  • 59.27 (a)
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 MAF
rs27196 -- 90,599,202(-) ATACT(A/T)TATTG intron-variant
rs27197 -- 90,598,747(-) ATCAC(A/C/G)CTGGC intron-variant
rs37241 -- 90,557,525(-) AACAG(C/G)TTTCC upstream-variant-2KB
rs40205 -- 90,561,757(-) ATAAA(C/T)TGTCT intron-variant
rs42467 -- 90,557,252(-) TTAGC(A/G)TTTGT upstream-variant-2KB

Relevant External Links for ADGRV1 Gene

HapMap Linkage Disequilibrium report
ADGRV1
Locus Specific Mutation Databases (LSDB)
GPR98

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

(2) OMIM Diseases for ADGRV1 Gene (602851)

UniProtKB/Swiss-Prot

GPR98_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.

(2) Novoseek inferred disease relationships for ADGRV1 Gene

Disease -log(P) Hits PubMed IDs
usher syndrome 92.2 5
retinitis pigmentosa 76 1
genes like me logo Genes that share disorders with ADGRV1: view

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
  2. 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 4 23
  3. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. (PMID: 12402266) Nakayama J. … Ptacek L.J. (Ann. Neurol. 2002) 3 4 23
  4. 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 4 23
  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 P.C. (Mol. Endocrinol. 2000) 2 3 4

Products for ADGRV1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ADGRV1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ADGRV1
    • Block miRNA regulation of ADGRV1 using miScript Target Protectors

    Sources for ADGRV1 Gene

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