OXTR (Oxytocin Receptor) Gene
Key regulator of social behavior, bonding, and parturition
Gene Information Card
| Symbol | OXTR |
|---|---|
| Full Name | Oxytocin Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 5021 ncbi.nlm.nih.gov/gene/5021 |
| Ensembl ID | ENSG00000180914 |
| UniProt ID | P30559 |
| OMIM ID | 167055 |
| HGNC ID | 8529 |
| Aliases | OT-R, OTR |
Description
The OXTR gene encodes the oxytocin receptor, a G protein-coupled receptor that binds the neuropeptide oxytocin. It is primarily expressed in the brain, uterus, and mammary glands, mediating social bonding, maternal behavior, uterine contraction during labor, and lactation. Variants in OXTR are associated with autism spectrum disorder, social cognition deficits, and postpartum depression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder | OXTR variants may alter receptor expression or signaling, affecting social behavior and empathy | ClinVar, OMIM |
| Postpartum Depression | Reduced OXTR expression in the brain linked to impaired oxytocin signaling and mood regulation | ClinVar, OMIM |
| Preterm Labor | OXTR polymorphisms influence uterine sensitivity to oxytocin, affecting labor onset | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 2.1 | Low |
| Uterus | 15.3 | Medium |
| Mammary gland | 8.7 | Low |
| Placenta | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.2 | Low expression |
| MCF-7 (breast cancer) | 0.8 | Very low |
| HUVEC (endothelial) | 0.5 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs53576 (G>A) | SNP | ~30% (global) | Alters OXTR expression; associated with social behavior and autism risk |
| rs2254298 (A>G) | SNP | ~25% (global) | Linked to autism and anxiety disorders |
| c.937C>T (p.Arg313Trp) | Missense | Rare | Reduced receptor activity; reported in autism cases |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg313Trp) reduce oxytocin binding or G-protein coupling, impairing signaling.
Gain of Function (GOF)
Not well documented; some SNPs may increase receptor expression but functional evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for OXTR.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • oxytocin receptor activity |
| • peptide hormone binding | • plasma membrane |
| • positive regulation of cytosolic calcium ion concentration | • social behavior |
| • maternal behavior | • parturition |
Pathways
• Oxytocin signaling pathway
• Calcium signaling pathway
• cAMP signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
The oxytocin receptor (UniProt P30559) is a 389-amino acid transmembrane protein belonging to the rhodopsin-like GPCR family. It is activated by oxytocin, leading to phospholipase C activation, calcium mobilization, and downstream effects on smooth muscle contraction and neuronal excitability. The receptor is critical for uterine contractions during labor, milk ejection, and central nervous system functions including pair bonding and social recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OXTR Knockout HEK293 Cell Line | EDJ-KQ1595 | Human | 5021 | Details Get a Quote |
| OXTR Knockout A-549 Cell Line | EDJ-KQ21279 | Human | 5021 | Details Get a Quote |
| OXTR Knockout HCT 116 Cell Line | EDJ-KQ21280 | Human | 5021 | Details Get a Quote |
| OXTR Knockout HeLa Cell Line | EDJ-KQ21281 | Human | 5021 | Details Get a Quote |
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