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    OR6C3 olfactory receptor family 6 subfamily C member 3 [ Homo sapiens (human) ]

    Gene ID: 254786, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OR6C3provided by HGNC
    Official Full Name
    olfactory receptor family 6 subfamily C member 3provided by HGNC
    Primary source
    HGNC:HGNC:15437
    See related
    Ensembl:ENSG00000205329 AllianceGenome:HGNC:15437
    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
    OST709
    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]
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    Genomic context

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    See OR6C3 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55330043..55332636)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55296603..55299196)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55723827..55726420)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 6 subfamily C member 5 pseudogene Neighboring gene olfactory receptor family 6 subfamily C member 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55738311-55738864 Neighboring gene olfactory receptor family 6 subfamily C member 7 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55748642-55749419 Neighboring gene olfactory receptor family 6 subfamily C member 75

    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. 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
    2. The olfactory receptor gene repertoire in primates and mouse: evidence for reduction of the functional fraction in primates. Rouquier S, et al. Proc Natl Acad Sci U S A, 2000 Mar 14. PMID 10706615, Free PMC Article
    3. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    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

    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)

    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
    		  
    enables olfactory receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    involved_in sensory perception of smell 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

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    Preferred Names
    olfactory receptor 6C3
    Names
    HSA8

    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_001388498.1 → NP_001375427.1  olfactory receptor 6C3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122684
      Consensus CDS
      CCDS31819.1
      UniProtKB/Swiss-Prot
      Q9NZP0
      UniProtKB/TrEMBL
      A0A126GW44
      Related
      ENSP00000493380.1, ENST00000641740.2
      Conserved Domains (1) summary
      cd15912
      Location:22 → 291
      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_054104.2 → NP_473445.1  olfactory receptor 6C3 isoform 1

      See identical proteins and their annotated locations for NP_473445.1

      Status: VALIDATED

      Source sequence(s)
      AC122684
      Consensus CDS
      CCDS31819.1
      UniProtKB/Swiss-Prot
      Q9NZP0
      UniProtKB/TrEMBL
      A0A126GW44
      Related
      ENSP00000493034.1, ENST00000641364.1
      Conserved Domains (1) summary
      cd15912
      Location:22 → 291
      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
      55330043..55332636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55296603..55299196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZP0.2 GenPept UniProtKB/Swiss-Prot:Q9NZP0

    Gene LinkOut

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

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