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    OR4A47 olfactory receptor family 4 subfamily A member 47 [ Homo sapiens (human) ]

    Gene ID: 403253, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OR4A47provided by HGNC
    Official Full Name
    olfactory receptor family 4 subfamily A member 47provided by HGNC
    Primary source
    HGNC:HGNC:31266
    See related
    Ensembl:ENSG00000237388 AllianceGenome:HGNC:31266
    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
    OR11-113
    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. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    See OR4A47 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (48488793..48489722)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (48658411..48659340)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (48510345..48511274)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 4 subfamily C member 9 pseudogene Neighboring gene olfactory receptor family 4 subfamily R member 1 pseudogene Neighboring gene olfactory receptor family 4 subfamily A member 48 pseudogene Neighboring gene olfactory receptor family 4 subfamily A member 46 pseudogene

    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. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Cheng CY, et al. Am J Hum Genet, 2013 Aug 8. PMID 24144296, Free PMC Article
    2. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811
    3. DEFOG: a practical scheme for deciphering families of genes. Fuchs T, et al. Genomics, 2002 Sep. PMID 12213199
    4. 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
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    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 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
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 4A47
    Names
    olfactory receptor OR11-113

    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_001005512.2 → NP_001005512.2  olfactory receptor 4A47

      See identical proteins and their annotated locations for NP_001005512.2

      Status: VALIDATED

      Source sequence(s)
      AC134982
      Consensus CDS
      CCDS31490.1
      UniProtKB/Swiss-Prot
      Q6IF82
      UniProtKB/TrEMBL
      A0A126GWE1
      Related
      ENSP00000412752.1, ENST00000446524.2
      Conserved Domains (2) summary
      pfam00001
      Location:39 → 285
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:29 → 299
      7tm_4; Olfactory receptor

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      48488793..48489722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      48658411..48659340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IF82.2 GenPept UniProtKB/Swiss-Prot:Q6IF82

    Gene LinkOut

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

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