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    OR2C1 olfactory receptor family 2 subfamily C member 1 [ Homo sapiens (human) ]

    Gene ID: 4993, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OR2C1provided by HGNC
    Official Full Name
    olfactory receptor family 2 subfamily C member 1provided by HGNC
    Primary source
    HGNC:HGNC:8242
    See related
    Ensembl:ENSG00000168158 AllianceGenome:HGNC:8242
    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
    OLFmf3; OR2C2P
    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
    mouse all
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    Genomic context

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    See OR2C1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3322931..3358137)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3349985..3384350)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3405889..3407306)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10318 Neighboring gene long intergenic non-protein coding RNA 921 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3332464-3332969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7131 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3333980-3334483 Neighboring gene zinc finger protein 263 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3354991-3355520 Neighboring gene tigger transposable element derived 7 Neighboring gene zinc finger protein 75A Neighboring gene RPL7L1 pseudogene 19 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:3414288-3415487 Neighboring gene uncharacterized LOC105371059 Neighboring gene MT-CO2 pseudogene 28 Neighboring gene MT-CO1 pseudogene 28

    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. Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3. Centola M, et al. Genome Res, 1998 Nov. PMID 9847080, Free PMC Article
    2. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
    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 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
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC95444, MGC163200

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables odorant binding 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
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 2C1
    Names
    olfactory receptor 2C2
    olfactory receptor OR16-1
    olfactory receptor OR16-2
    olfactory receptor, family 2, subfamily C, member 2 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_012368.3 → NP_036500.2  olfactory receptor 2C1

      See identical proteins and their annotated locations for NP_036500.2

      Status: VALIDATED

      Source sequence(s)
      AC025283, BC069158, BC126269
      Consensus CDS
      CCDS10502.1
      UniProtKB/Swiss-Prot
      A0AVA4, O95371, Q6IF34, Q6IF55
      UniProtKB/TrEMBL
      A0A126GVX2, A0A126GVY2, A0A126GW22
      Related
      ENSP00000307726.2, ENST00000304936.4
      Conserved Domains (1) summary
      cd15947
      Location:25 → 294
      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_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3322931..3358137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434179.1 → XP_047290135.1  olfactory receptor 2C1 isoform X1

      UniProtKB/Swiss-Prot
      A0AVA4, O95371, Q6IF34, Q6IF55

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3349985..3384350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380408.1 → XP_054236383.1  olfactory receptor 2C1 isoform X1

      UniProtKB/TrEMBL
      A0A126GVU4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95371.3 GenPept UniProtKB/Swiss-Prot:O95371

    Gene LinkOut

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

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