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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
  • GPR98 3 4
  • MASS1 3 4
  • VLGR1 3 4
  • Monogenic, Audiogenic Seizure Susceptibility 1 Homolog (Mouse) 2
  • G Protein-Coupled Receptor 98 2
  • G-Protein Coupled Receptor 98 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 SLC8A2.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G090439 1.1 Ensembl ENCODE 11.8 -89.3 -89268 1.0 CTCF ZNF384 CHD7 ZNF644 RAD21 YY1 ZNF366 SMC3 HES1 ZNF639 LYSMD3 ADGRV1 POLR3G MBLAC2 LOC731157 CETN3
GH05G090639 1.6 Ensembl ENCODE dbSUPER 5.3 +113.2 113218 7.1 PKNOX1 FOXA2 CREB3L1 ARNT ZNF766 FOS JUNB SMARCB1 ZNF592 MEF2D POLR3G ADGRV1 LOC105379077 LYSMD3
GH05G090982 1.3 Ensembl ENCODE 5.5 +453.9 453914 1.9 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 ZNF766 CBX5 FOS ZNF263 JUNB ADGRV1 TMEM251P1 GC05P090774
GH05G090908 1 Ensembl ENCODE 5.7 +379.9 379921 1.0 SOX13 PKNOX1 MAX THRB RAD21 RARA YY1 ZNF316 RERE NR2F6 ADGRV1 POLR3G TMEM251P1 GC05P090774
GH05G090910 0.9 ENCODE 6.1 +382.1 382066 1.4 ELF3 FOXA2 MLX ZSCAN9 RAD21 RARA YY1 CREM THAP11 KLF11 ADGRV1 TMEM251P1 GC05P090774
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000183824 -44 2601 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ADGRV1 Gene

Chromosome:
5
Start:
90,529,344 bp from pter
End:
91,164,437 bp from pter
Size:
635,094 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

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

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 :
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Family:
  • 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.

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 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

Inhibitory RNA 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

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
extracellular 5
cytoskeleton 1
nucleus 1

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 11606593
GO:0016021 integral component of membrane IEA,TAS --
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,TAS --
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

CRISPR Products

Inhibitory RNA 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-GPR98_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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia GPR98 35 34
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPR98 35 34
  • 89.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPR98 34 35
  • 87.65 (n)
mouse
(Mus musculus)
Mammalia Gpr98 35 34
  • 82.49 (n)
OneToOne
Adgrv1 16
rat
(Rattus norvegicus)
Mammalia RGD1562101 34
  • 82.01 (n)
oppossum
(Monodelphis domestica)
Mammalia GPR98 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR98 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR98 35 34
  • 71.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPR98 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr98 34
  • 64.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8698 34
zebrafish
(Danio rerio)
Actinopterygii gpr98 35 34
  • 57.78 (n)
OneToMany
GPR98 (2 of 2) 35
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ncx-3 35
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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
rs756460900 Uncertain significance, Usher syndrome 2C (USH2C) [MIM:605472] 90,965,491(+) CACAC(A/G)TTACC nc-transcript-variant, reference, missense
VAR_068032 Usher syndrome 2C (USH2C) [MIM:605472]
rs1057517740 Pathogenic 90,627,494(+) CAAAA(-/A)TCTGG nc-transcript-variant, reference, frameshift-variant
rs1057517741 Pathogenic 90,753,572(+) ATTCT(A/G)GATTT splice-acceptor-variant
rs121909761 Pathogenic 90,705,508(+) TTCAT(A/C)AAGAT nc-transcript-variant, reference, stop-gained

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)

Relevant External Links 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

(17) 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 seizures 4
usher syndrome type 2
  • ush2
usher syndrome
  • retinitis pigmentosa-deafness 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 22 64
  2. 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 22 64
  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. (Hum. Mol. Genet. 2006) 3 4 22 64
  4. 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 22 64
  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 64

Products for ADGRV1 Gene

Sources for ADGRV1 Gene

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