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

Gene ID: 254786, updated on 23-Nov-2023

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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55330043..55332636)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55296603..55299196)
105.20220307 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)

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
  
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_2023_10

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

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