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    OR2K2 olfactory receptor family 2 subfamily K member 2 [ Homo sapiens (human) ]

    Gene ID: 26248, updated on 7-Apr-2024

    Summary

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    Official Symbol
    OR2K2provided by HGNC
    Official Full Name
    olfactory receptor family 2 subfamily K member 2provided by HGNC
    Primary source
    HGNC:HGNC:8264
    See related
    Ensembl:ENSG00000171133 AllianceGenome:HGNC:8264
    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
    OR2AN1P; OR2AR1P; HTPCRH06; HSHTPCRH06
    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
    mouse all
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    Genomic context

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    Location:
    9q31.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (111327229..111330224, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (123498588..123501583, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114089509..114092504, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376219 Neighboring gene microRNA 7702 Neighboring gene Ecm29 proteasome adaptor and scaffold Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114161623-114162149 Neighboring gene RNA, 5S ribosomal pseudogene 294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:114233029-114233528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:114288123-114288622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28793 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:114292004-114292628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105867 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105871 Neighboring gene zinc finger protein 483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105889 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105891 Neighboring gene prostaglandin reductase 1

    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. Ancient genomic architecture for mammalian olfactory receptor clusters. Aloni R, et al. Genome Biol, 2006. PMID 17010214, Free PMC Article
    2. Expression of members of the putative olfactory receptor gene family in mammalian germ cells. Parmentier M, et al. Nature, 1992 Jan 30. PMID 1370859
    3. Multiple loci are associated with white blood cell phenotypes. Nalls MA, et al. PLoS Genet, 2011 Jun. PMID 21738480, Free PMC Article
    4. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Perry JR, et al. Nature, 2014 Oct 2. PMID 25231870, Free PMC Article
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer's Disease.
      Title: Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer's Disease.
    Submit: New GeneRIF Correction

    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
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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

    Clone Names

    • MGC133152

    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
    		  

    General protein information

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    Preferred Names
    olfactory receptor 2K2
    Names
    olfactory receptor OR9-17
    olfactory receptor, family 2, subfamily AN, member 1 pseudogene
    olfactory receptor, family 2, subfamily AR, member 1 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_205859.2 → NP_995581.1  olfactory receptor 2K2

      See identical proteins and their annotated locations for NP_995581.1

      Status: VALIDATED

      Source sequence(s)
      AL354661
      Consensus CDS
      CCDS6778.1
      UniProtKB/Swiss-Prot
      Q2TA61, Q5VYK4, Q6IFI5, Q8NGT1
      UniProtKB/TrEMBL
      A0A0C4DFP3, A0A494BX18
      Related
      ENSP00000305055.1, ENST00000302681.3
      Conserved Domains (1) summary
      cd15430
      Location:25 → 293
      7tmA_OR13-like; olfactory receptor family 13 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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      111327229..111330224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      123498588..123501583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NGT1.3 GenPept UniProtKB/Swiss-Prot:Q8NGT1

    Gene LinkOut

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

    Chemical Information
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