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OR2C3 olfactory receptor family 2 subfamily C member 3 [ Homo sapiens (human) ]

Gene ID: 81472, updated on 5-Mar-2024

Summary

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Official Symbol
OR2C3provided by HGNC
Official Full Name
olfactory receptor family 2 subfamily C member 3provided by HGNC
Primary source
HGNC:HGNC:15005
See related
Ensembl:ENSG00000196242 AllianceGenome:HGNC:15005
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
OR2C4; OR2C5P; OST742
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]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See OR2C3 in Genome Data Viewer
Location:
1q44
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (247524677..247536440, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (246961473..246973258, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (247687979..247699742, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily B member 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:247634472-247634665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:247634852-247635484 Neighboring gene olfactory receptor family 2 subfamily W member 5 pseudogene Neighboring gene germinal center associated signaling and motility like Neighboring gene GCSAML antisense RNA 1 Neighboring gene uncharacterized LOC102724446 Neighboring gene MPRA-validated peak835 silencer Neighboring gene olfactory receptor family 2 subfamily G member 2 Neighboring gene olfactory receptor family 2 subfamily G member 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Treviño LR, et al. Nat Genet, 2009 Sep. PMID 19684603, Free PMC Article
  2. DEFOG: a practical scheme for deciphering families of genes. Fuchs T, et al. Genomics, 2002 Sep. PMID 12213199
  3. 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
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, 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
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
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
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
olfactory receptor 2C3
Names
olfactory receptor 2C4
olfactory receptor 2C5
olfactory receptor OR1-30
olfactory receptor, family 2, subfamily C, member 4
olfactory receptor, family 2, subfamily C, member 5 pseudogene

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_198074.6 → NP_932340.4  olfactory receptor 2C3

    Status: VALIDATED

    Source sequence(s)
    AL606804
    Consensus CDS
    CCDS1634.2
    UniProtKB/Swiss-Prot
    Q5JQS4, Q6IEZ1, Q8N628, Q8NGW7
    UniProtKB/TrEMBL
    A0A126GW27
    Related
    ENSP00000493385.1, ENST00000641802.1
    Conserved Domains (1) summary
    cd15947
    Location:26 → 295
    7tmA_OR2B-like; olfactory receptor subfamily 2B 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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    247524677..247536440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    246961473..246973258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N628.3 GenPept UniProtKB/Swiss-Prot:Q8N628

Gene LinkOut

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