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    OR6C2 olfactory receptor family 6 subfamily C member 2 [ Homo sapiens (human) ]

    Gene ID: 341416, updated on 27-Nov-2024

    Summary

    Official Symbol
    OR6C2provided by HGNC
    Official Full Name
    olfactory receptor family 6 subfamily C member 2provided by HGNC
    Primary source
    HGNC:HGNC:15436
    See related
    Ensembl:ENSG00000179695 AllianceGenome:HGNC:15436
    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
    OR6C67
    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
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    Genomic context

    See OR6C2 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 (55444076..55453347)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55410625..55419895)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55837860..55847131)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene polyhomeotic homolog 1 pseudogene 1 Neighboring gene olfactory receptor family 6 subfamily C member 76 Neighboring gene uncharacterized LOC124902940 Neighboring gene olfactory receptor family 6 subfamily C member 70 Neighboring gene olfactory receptor family 6 subfamily C member 68

    Genomic regions, transcripts, and products

    Phenotypes

    EBI GWAS Catalog

    Description
    Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
    EBI GWAS Catalog

    General gene information

    Markers

    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
     
    enables olfactory receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    olfactory receptor 6C2
    Names
    HSA3

    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_054105.2NP_473446.1  olfactory receptor 6C2

      See identical proteins and their annotated locations for NP_473446.1

      Status: VALIDATED

      Source sequence(s)
      AC122685
      Consensus CDS
      CCDS31824.1
      UniProtKB/Swiss-Prot
      Q9NZP2
      UniProtKB/TrEMBL
      A0A126GW05
      Related
      ENSP00000493222.1, ENST00000641202.1
      Conserved Domains (2) summary
      pfam00001
      Location:39288
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:31298
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55444076..55453347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55410625..55419895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)