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OXTR oxytocin receptor [ Homo sapiens (human) ]

Gene ID: 5021, updated on 11-Apr-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
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Genomic context

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Location:
3p25.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (8741269..8769613, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (8741551..8760789, complement)
105.20220307 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
  • 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. Endogenous oxytocin levels in children with autism: Associations with cortisol levels and oxytocin receptor gene methylation. Evenepoel M, et al. Transl Psychiatry, 2023 Jun 30. PMID 37391413, Free PMC Article
  2. Oxytocin receptor (OXTR) is a risk gene for polycystic ovarian syndrome. Amin M, et al. Eur Rev Med Pharmacol Sci, 2023 Mar. PMID 37013781
  3. Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage. Erickson EN, et al. BMC Pregnancy Childbirth, 2022 Nov 29. PMID 36447139, Free PMC Article
  4. The neural basis of smile authenticity judgments and the potential modulatory role of the oxytocin receptor gene (OXTR). Lee M, et al. Behav Brain Res, 2023 Feb 2. PMID 36216140
  5. Sex-dependent association between variability in infants' OXTR methylation at birth and negative affectivity at 3 months. Nazzari S, et al. Psychoneuroendocrinology, 2022 Nov. PMID 36108459

See all (429) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. A targeted long-read sequencing approach questions the association of OXTR methylation with high-functioning autism.
    Title: A targeted long-read sequencing approach questions the association of OXTR methylation with high-functioning autism.
  6. Relationship Between Genetic Variant Of OXTR (Rs53576) And MTNR1B (Rs1387153) And Symptoms Of Psychological Stress In Females With Gestational Diabetes Mellitus.
    Title: Relationship Between Genetic Variant Of OXTR (Rs53576) And MTNR1B (Rs1387153) And Symptoms Of Psychological Stress In Females With Gestational Diabetes Mellitus.
  7. Understanding altruistic behavior: The joint role of prefrontal damage and OXTR genotype.
    Title: Understanding altruistic behavior: The joint role of prefrontal damage and OXTR genotype.
  8. The DNA methylation landscape of the human oxytocin receptor gene (OXTR): data-driven clusters and their relation to gene expression and childhood adversity.
    Title: The DNA methylation landscape of the human oxytocin receptor gene (OXTR): data-driven clusters and their relation to gene expression and childhood adversity.
  9. Epigenetic modification of the oxytocin receptor gene is associated with child-parent neural synchrony during competition.
    Title: Epigenetic modification of the oxytocin receptor gene is associated with child-parent neural synchrony during competition.
  10. Endogenous oxytocin levels in children with autism: Associations with cortisol levels and oxytocin receptor gene methylation.
    Title: Endogenous oxytocin levels in children with autism: Associations with cortisol levels and oxytocin receptor gene methylation.
Submit: New GeneRIF Correction See all GeneRIFs (406)

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
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 oxytocin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide binding 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_2023_10

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.

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