OXTR oxytocin receptor [Homo sapiens (human)] - Gene

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC170950P1 (e-PCR)
- UniSTS:271619

STS-X64878 (e-PCR)
- UniSTS:1284

GDB:606394 (e-PCR)
- UniSTS:158228

OXTR (e-PCR), detects polymorphism
- UniSTS:479832

D3S18 (e-PCR)
- UniSTS:148120

D3S4163 (e-PCR)
- UniSTS:53169

D3S4539 (e-PCR)
- UniSTS:49373

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)

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
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
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
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
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