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    OR5H2 olfactory receptor family 5 subfamily H member 2 [ Homo sapiens (human) ]

    Gene ID: 79310, updated on 17-Sep-2024

    Summary

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    Official Symbol
    OR5H2provided by HGNC
    Official Full Name
    olfactory receptor family 5 subfamily H member 2provided by HGNC
    Primary source
    HGNC:HGNC:14752
    See related
    Ensembl:ENSG00000197938 AllianceGenome:HGNC:14752
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OR3-10
    Summary
    Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    See OR5H2 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (98282505..98284070)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (100986200..100987765)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (98001349..98002914)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97960859-97961554 Neighboring gene olfactory receptor family 5 subfamily H member 7 pseudogene Neighboring gene uncharacterized LOC105373999 Neighboring gene olfactory receptor family 5 subfamily H member 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:98010491-98010992 Neighboring gene olfactory receptor family 5 subfamily H member 8 (gene/pseudogene) Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:98043469-98044668 Neighboring gene NANOG hESC enhancer GRCh37_chr3:98045278-98045876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:98047305-98048042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:98048043-98048779 Neighboring gene olfactory receptor family 5 subfamily K member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway. Shibel R, et al. Cells, 2021 Jun 12. PMID 34204736, Free PMC Article
    2. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Daly AK, et al. Nat Genet, 2009 Jul. PMID 19483685
    3. The human olfactory receptor gene family. Malnic B, et al. Proc Natl Acad Sci U S A, 2004 Feb 24. PMID 14983052, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway.
      Title: The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables odorant binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables olfactory receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of chemical stimulus involved in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 5H2
    Names
    olfactory receptor OR3-10

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001005482.2 → NP_001005482.2  olfactory receptor 5H2

      Status: VALIDATED

      Source sequence(s)
      AC117473
      Consensus CDS
      CCDS33801.2
      UniProtKB/Swiss-Prot
      Q6IF87, Q8NGV7
      UniProtKB/TrEMBL
      A0A126GV88
      Related
      ENSP00000347418.3, ENST00000355273.3
      Conserved Domains (1) summary
      cd15409
      Location:25 → 303
      7tmA_OR5H-like; olfactory receptor subfamily 5H and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      98282505..98284070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      100986200..100987765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NGV7.4 GenPept UniProtKB/Swiss-Prot:Q8NGV7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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