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    OR12D2 olfactory receptor family 12 subfamily D member 2 [ Homo sapiens (human) ]

    Gene ID: 26529, updated on 9-Dec-2024

    Summary

    Official Symbol
    OR12D2provided by HGNC
    Official Full Name
    olfactory receptor family 12 subfamily D member 2provided by HGNC
    Primary source
    HGNC:HGNC:8178
    See related
    Ensembl:ENSG00000280236 AllianceGenome:HGNC:8178
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HS6M1-20; DJ994E9.8
    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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Orthologs
    NEW
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    Genomic context

    See OR12D2 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (29395631..29398008)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (29270421..29272655)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (29363408..29365785)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily V member 1 Neighboring gene olfactory receptor family 12 subfamily D member 3 Neighboring gene olfactory receptor family 12 subfamily D member 1 (gene/pseudogene) Neighboring gene olfactory receptor family 11 subfamily A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:29408251-29408751 Neighboring gene olfactory receptor family 10 subfamily C member 1

    Genomic regions, transcripts, and products

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog

    General gene information

    Markers

    Clone Names

    • MGC126791, MGC126795

    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 IBA
    Inferred from Biological aspect of Ancestor
    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 membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    olfactory receptor 12D2
    Names
    olfactory receptor OR6-28

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_053020.1 RefSeqGene

      Range
      3993..6370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013936.4NP_039224.2  olfactory receptor 12D2

      See identical proteins and their annotated locations for NP_039224.2

      Status: REVIEWED

      Source sequence(s)
      AL645927
      UniProtKB/Swiss-Prot
      B0S862, P58182, Q5SUN9, Q6IET9
      UniProtKB/TrEMBL
      A0A126GV87, A0A1U9X889
      Related
      ENSP00000493463.1, ENST00000642051.1
      Conserved Domains (1) summary
      cd15915
      Location:23293
      7tmA_OR12D-like; olfactory receptor subfamily 12D 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      29395631..29398008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      882235..884469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      661283..663517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      660919..663153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      661148..663382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      704779..707013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      29270421..29272655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)