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    OR2AT4 olfactory receptor family 2 subfamily AT member 4 [ Homo sapiens (human) ]

    Gene ID: 341152, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OR2AT4provided by HGNC
    Official Full Name
    olfactory receptor family 2 subfamily AT member 4provided by HGNC
    Primary source
    HGNC:HGNC:19620
    See related
    Ensembl:ENSG00000171561 AllianceGenome:HGNC:19620
    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
    OR11-265
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See OR2AT4 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (75081753..75096890, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (75011299..75026436, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74792798..74807935, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily AT member 2 pseudogene Neighboring gene nucleophosmin 1 pseudogene 50 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4261 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:74810905-74812104 Neighboring gene FA complementation group L pseudogene Neighboring gene olfactory receptor family 2 subfamily AT member 1 pseudogene

    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. Preliminary evidence that Merkel cells exert chemosensory functions in human epidermis. Piccini I, et al. Exp Dermatol, 2023 Oct. PMID 37587642
    2. Olfactory receptor OR2AT4 regulates human hair growth. Chéret J, et al. Nat Commun, 2018 Sep 18. PMID 30228264, Free PMC Article
    3. A synthetic sandalwood odorant induces wound-healing processes in human keratinocytes via the olfactory receptor OR2AT4. Busse D, et al. J Invest Dermatol, 2014 Nov. PMID 24999593
    4. Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling. Shi J, et al. World Neurosurg, 2022 Apr. PMID 35092815
    5. 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

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Preliminary evidence that Merkel cells exert chemosensory functions in human epidermis.
      Title: Preliminary evidence that Merkel cells exert chemosensory functions in human epidermis.
    2. Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling.
      Title: Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling.
    3. Study shows that human hair follicles (HF) can engage in chemosensation and that the specific activation of OR2AT4 is required to sustain HF growth.
      Title: Olfactory receptor OR2AT4 regulates human hair growth.
    4. OR2AT4 is involved in human keratinocyte re-epithelialization during wound-healing processes
      Title: A synthetic sandalwood odorant induces wound-healing processes in human keratinocytes via the olfactory receptor OR2AT4.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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
    		  
    enables olfactory receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction 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
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 2AT4
    Names
    olfactory receptor OR11-265 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_001005285.2 → NP_001005285.1  olfactory receptor 2AT4 isoform 1

      See identical proteins and their annotated locations for NP_001005285.1

      Status: VALIDATED

      Source sequence(s)
      AP001972, AP003175
      Consensus CDS
      CCDS31639.1
      UniProtKB/Swiss-Prot
      A6NND4, B9EGZ8
      UniProtKB/TrEMBL
      A0A126GWB1
      Related
      ENSP00000304846.3, ENST00000305159.3
      Conserved Domains (1) summary
      cd13954
      Location:45 → 299
      7tmA_OR; olfactory receptors, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001405852.1 → NP_001392781.1  olfactory receptor 2AT4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP001972, AP003175
      UniProtKB/Swiss-Prot
      A6NND4, B9EGZ8
      UniProtKB/TrEMBL
      A0A126GWB1
      Related
      ENSP00000493318.1, ENST00000641504.1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      75081753..75096890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      75011299..75026436 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NND4.1 GenPept UniProtKB/Swiss-Prot:A6NND4

    Gene LinkOut

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