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

Gene ID: 341418, updated on 5-Mar-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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

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Location:
12q13.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55549602..55555832)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55516146..55522376)
105.20220307 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_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
    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

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