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GPR98 G protein-coupled receptor 98 [ Homo sapiens (human) ]

Gene ID: 84059, updated on 3-Jun-2014
Official Symbol
GPR98provided by HGNC
Official Full Name
G protein-coupled receptor 98provided by HGNC
Primary source
HGNC:17416
See related
Ensembl:ENSG00000164199; HPRD:09111; MIM:602851; Vega:OTTHUMG00000162668
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FEB4; MASS1; USH2B; USH2C; VLGR1; VLGR1b
Summary
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]
See GPR98 in Epigenomics, MapViewer
Location:
5q13
Exon count :
90
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (90558800..91164216)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (89854617..90460254)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene polymerase (RNA) III (DNA directed) polypeptide G (32kD) Neighboring gene LysM, putative peptidoglycan-binding, domain containing 3 Neighboring gene transmembrane protein 251 pseudogene Neighboring gene uncharacterized LOC102724662 Neighboring gene uncharacterized LOC729040 Neighboring gene lung cancer associated transcript 1 (non-protein coding)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Febrile seizures, familial, 4
MedGen: C1858493 OMIM: 604352 GeneReviews: Not available
Compare labs
Usher syndrome, type 2C
MedGen: C1854237 OMIM: 605472 GeneReviews: Usher Syndrome Type II
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
NHGRI GWA Catalog
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • GPCRs, Other, organism-specific biosystem (from WikiPathways)
    GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
myosin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
maintenance of organ identity IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
neurological system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
single organismal cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
stereocilia ankle link complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
G-protein coupled receptor 98
Names
G-protein coupled receptor 98
usher syndrome type-2C protein
very large G protein-coupled receptor 1
very large G-protein coupled receptor 1
monogenic, audiogenic seizure susceptibility 1 homolog
monogenic audiogenic seizure susceptibility protein 1 homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007083.1 

    Range
    5001..610417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032119.3NP_115495.3  G-protein coupled receptor 98 precursor

    See proteins identical to NP_115495.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as VLGR1b, encodes the predominant isoform (1).
    Source sequence(s)
    AC027323, AC034215, AC074132, AC093281, AC093529, AC094109, AC099512
    Consensus CDS
    CCDS47246.1
    UniProtKB/Swiss-Prot
    Q8WXG9
    Related
    ENSP00000384582, OTTHUMP00000222494, ENST00000405460, OTTHUMT00000369993
    Conserved Domains (5) summary
    pfam03736
    Location:33963439
    Blast Score: 110
    EPTP; EPTP domain
    pfam01825
    Location:58535895
    Blast Score: 123
    GPS; Latrophilin/CL-1-like GPS domain
    pfam13385
    Location:13461495
    Blast Score: 179
    Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
    cl02522
    Location:42674354
    Blast Score: 184
    Calx-beta; Calx-beta domain
    cl19289
    Location:59156148
    Blast Score: 185
    7tm_2; 7 transmembrane receptor (Secretin family)

RNA

  1. NR_003149.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as VLGR1c, uses an alternate splice site in the 5' coding region, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AC027323, AC034215, AC074132, AC093281, AC093529, AC094109, AC099512

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    90558800..91164216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    85065303..85671984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    89287285..89892836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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