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    OXTR oxytocin receptor [ Homo sapiens (human) ]

    Gene ID: 5021, updated on 12-Nov-2024

    Summary

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    Official Symbol
    OXTRprovided by HGNC
    Official Full Name
    oxytocin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:8529
    See related
    Ensembl:ENSG00000180914 MIM:167055; AllianceGenome:HGNC:8529
    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
    OTR; OT-R
    Summary
    The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in ovary (RPKM 1.0), endometrium (RPKM 1.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OXTR in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (8741269..8769613, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (8741551..8760789, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (8792067..8811299, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:8664536-8665156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19390 Neighboring gene ssu-2 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14028 Neighboring gene olfactory receptor family 7 subfamily E member 122 pseudogene Neighboring gene MPRA-validated peak4531 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:8765327-8765828 Neighboring gene caveolin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8808751-8809422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8810095-8810766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19394 Neighboring gene uncharacterized LOC107986061 Neighboring gene uncharacterized LOC107984112

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Oxytocin/Oxytocin Receptor Signalling in the Gastrointestinal System: Mechanisms and Therapeutic Potential.
      Title: Oxytocin/Oxytocin Receptor Signalling in the Gastrointestinal System: Mechanisms and Therapeutic Potential.
    2. Parent-Adolescent Conflict, Peer Victimization, and Internet Gaming Disorder Among Chinese Adolescents: The Moderating Effect of OXTR Gene rs53576 Polymorphism.
      Title: Parent-Adolescent Conflict, Peer Victimization, and Internet Gaming Disorder Among Chinese Adolescents: The Moderating Effect of OXTR Gene rs53576 Polymorphism.
    3. A Common OXTR Risk Variant Alters Regulation of Gene Expression by DNA Hydroxymethylation in Pregnant Human Myometrium.
      Title: A Common OXTR Risk Variant Alters Regulation of Gene Expression by DNA Hydroxymethylation in Pregnant Human Myometrium.
    4. Maternal Body Mass Index, Myometrium Contractility and Uterotonic Receptor Expression in Pregnancy.
      Title: Maternal Body Mass Index, Myometrium Contractility and Uterotonic Receptor Expression in Pregnancy.
    5. Grandmotherhood is associated with reduced OXTR DNA methylation.
      Title: Grandmotherhood is associated with reduced OXTR DNA methylation.
    6. Exploring the role of OXTR gene methylation in attachment development: A longitudinal study.
      Title: Exploring the role of OXTR gene methylation in attachment development: A longitudinal study.
    7. Patterns of neural activity in response to threatening faces are predictive of autistic traits: modulatory effects of oxytocin receptor genotype.
      Title: Patterns of neural activity in response to threatening faces are predictive of autistic traits: modulatory effects of oxytocin receptor genotype.
    8. The impact of childhood trauma exposure on social functioning in schizophrenia: the moderated mediation role of oxytocin and oxytocin receptor gene polymorphisms.
      Title: The impact of childhood trauma exposure on social functioning in schizophrenia: the moderated mediation role of oxytocin and oxytocin receptor gene polymorphisms.
    9. Decreased oxytocin plasma levels and oxytocin receptor expression associated with aggressive behavior in aggressive-impulsive disorders.
      Title: Decreased oxytocin plasma levels and oxytocin receptor expression associated with aggressive behavior in aggressive-impulsive disorders.
    10. Association of verbal and non-verbal theory of mind abilities with non-coding variants of OXTR in youth with autism spectrum disorder and typically developing individuals: a case-control study.
      Title: Association of verbal and non-verbal theory of mind abilities with non-coding variants of OXTR in youth with autism spectrum disorder and typically developing individuals: a case-control study.
    Submit: New GeneRIF Correction See all GeneRIFs (412)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ionotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxytocin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables vasopressin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in estrous cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female pregnancy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lactation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in maternal behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maternal process involved in parturition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of norepinephrine secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of penile erection IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of uterine smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasoconstriction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of systemic arterial blood pressure by vasopressin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to anoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cocaine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cytokine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to progesterone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm ejaculation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in suckling behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in telencephalon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microvillus 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
    oxytocin receptor

    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_000916.4 → NP_000907.2  oxytocin receptor

      See identical proteins and their annotated locations for NP_000907.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 all encode the same protein.
      Source sequence(s)
      AC068312
      Consensus CDS
      CCDS2570.1
      UniProtKB/Swiss-Prot
      P30559, Q15071
      UniProtKB/TrEMBL
      B2R9L7
      Related
      ENSP00000324270.2, ENST00000316793.8
      Conserved Domains (1) summary
      cd15387
      Location:40 → 340
      7tmA_OT_R; oxytocin receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001354653.2 → NP_001341582.1  oxytocin receptor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
      Source sequence(s)
      AC068312
      Consensus CDS
      CCDS2570.1
      UniProtKB/Swiss-Prot
      P30559, Q15071
      UniProtKB/TrEMBL
      B2R9L7
      Conserved Domains (1) summary
      cd15387
      Location:40 → 340
      7tmA_OT_R; oxytocin receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    3. NM_001354654.2 → NP_001341583.1  oxytocin receptor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
      Source sequence(s)
      AC068312
      Consensus CDS
      CCDS2570.1
      UniProtKB/Swiss-Prot
      P30559, Q15071
      UniProtKB/TrEMBL
      B2R9L7
      Conserved Domains (1) summary
      cd15387
      Location:40 → 340
      7tmA_OT_R; oxytocin receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    4. NM_001354655.2 → NP_001341584.1  oxytocin receptor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
      Source sequence(s)
      AC068312
      Consensus CDS
      CCDS2570.1
      UniProtKB/Swiss-Prot
      P30559, Q15071
      UniProtKB/TrEMBL
      B2R9L7
      Conserved Domains (1) summary
      cd15387
      Location:40 → 340
      7tmA_OT_R; oxytocin receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    5. NM_001354656.3 → NP_001341585.1  oxytocin receptor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
      Source sequence(s)
      AC068312
      Consensus CDS
      CCDS2570.1
      UniProtKB/Swiss-Prot
      P30559, Q15071
      UniProtKB/TrEMBL
      B2R9L7
      Conserved Domains (1) summary
      cd15387
      Location:40 → 340
      7tmA_OT_R; oxytocin receptor, 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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      8741269..8769613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007095681.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      8741551..8760789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30559.2 GenPept UniProtKB/Swiss-Prot:P30559

    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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