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    OR6C4 olfactory receptor family 6 subfamily C member 4 [ Homo sapiens (human) ]

    Gene ID: 341418, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OR6C4provided by HGNC
    Official Full Name
    olfactory receptor family 6 subfamily C member 4provided by HGNC
    Primary source
    HGNC:HGNC:19632
    See related
    Ensembl:ENSG00000179626 AllianceGenome:HGNC:19632
    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
    OR12-10
    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. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    See OR6C4 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55549602..55555832)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55516146..55522376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55943386..55949616)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 6 subfamily C member 68 Neighboring gene olfactory receptor family 6 subfamily C member 64 pseudogene Neighboring gene ATM interactor pseudogene Neighboring gene olfactory receptor family 2 subfamily AP member 1

    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. Rheumatoid factors from the peripheral blood of two patients with rheumatoid arthritis are genetically heterogeneous and somatically mutated. Youngblood K, et al. J Clin Invest, 1994 Feb. PMID 7509350, Free PMC Article
    2. Asymmetric selection of T cell antigen receptor alpha- and beta-chains in HLA-B27 alloreactivity. Lauzurica P, et al. J Immunol, 1992 Jun 1. PMID 1316921
    3. Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. Goodbourn PT, et al. Genes Brain Behav, 2014 Feb. PMID 24152035
    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. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) 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
    Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    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
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 6C4
    Names
    olfactory receptor OR12-10

    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_001005494.2 → NP_001005494.1  olfactory receptor 6C4

      See identical proteins and their annotated locations for NP_001005494.1

      Status: VALIDATED

      Source sequence(s)
      AC009779
      Consensus CDS
      CCDS31827.1
      UniProtKB/Swiss-Prot
      A8MZG7, B2RNN2, Q6IFK1, Q8NGE1
      Related
      ENSP00000493181.1, ENST00000641569.1
      Conserved Domains (1) summary
      cd15912
      Location:23 → 292
      7tmA_OR6C-like; olfactory receptor subfamily 6C and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001385975.1 → NP_001372904.1  olfactory receptor 6C4

      Status: VALIDATED

      Source sequence(s)
      AC009779
      Consensus CDS
      CCDS31827.1
      UniProtKB/Swiss-Prot
      A8MZG7, B2RNN2, Q6IFK1, Q8NGE1
      Related
      ENSP00000493445.1, ENST00000641851.1
      Conserved Domains (1) summary
      cd15912
      Location:23 → 292
      7tmA_OR6C-like; olfactory receptor subfamily 6C 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55549602..55555832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55516146..55522376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NGE1.1 GenPept UniProtKB/Swiss-Prot:Q8NGE1

    Gene LinkOut

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

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