OXTR

oxytocin receptor, the group of Arginine vasopressin and oxytocin receptors

Basic information

Region (hg38): 3:8750380-8769628

Links

ENSG00000180914 ∙ NCBI:5021 ∙ OMIM:167055 ∙ HGNC:8529 ∙ Uniprot:P30559 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OXTR gene.

• Inborn genetic diseases (12 variants)
• not provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OXTR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	3	5
missense			13		4	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	7

Variants in OXTR

This is a list of pathogenic ClinVar variants found in the OXTR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-8753043-C-T			Benign (Jul 10, 2018)
3-8753079-G-T		OXTR-related disorder	Benign (Dec 06, 2019)
3-8753081-G-A		not specified	Uncertain significance (Nov 23, 2021)
3-8753096-A-G		not specified	Uncertain significance (Jun 28, 2023)
3-8753126-C-T		not specified	Uncertain significance (Dec 01, 2022)
3-8753132-C-T		OXTR-related disorder	Benign (Jun 07, 2019)
3-8767284-C-T		not specified	Uncertain significance (Aug 14, 2023)
3-8767307-A-T		not specified	Uncertain significance (Feb 03, 2022)
3-8767397-T-C		not specified	Uncertain significance (Sep 22, 2022)
3-8767437-C-T		not specified	Uncertain significance (Dec 07, 2023)
3-8767476-C-T		OXTR-related disorder	Benign (Feb 11, 2020)
3-8767483-G-T			Likely benign (Jul 06, 2018)
3-8767498-G-A		OXTR-related disorder	Benign (Oct 21, 2019)
3-8767536-C-T			Benign (Apr 29, 2020)
3-8767545-C-G		not specified	Uncertain significance (Jul 19, 2023)
3-8767572-G-C			Benign (Jun 06, 2018)
3-8767647-C-A		not specified	Uncertain significance (Jan 06, 2023)
3-8767650-C-G		not specified	Uncertain significance (Dec 19, 2022)
3-8767673-A-G			Benign (Aug 16, 2018)
3-8767678-C-A		OXTR-related disorder	Likely benign (Nov 18, 2019)
3-8767789-C-T		not specified	Uncertain significance (Apr 12, 2023)
3-8767828-C-A			Likely benign (Aug 21, 2018)
3-8767837-G-A			Benign (Mar 29, 2018)
3-8767890-C-T		not specified	Uncertain significance (Dec 16, 2023)
3-8767986-G-A		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OXTR	protein_coding	protein_coding	ENST00000316793	2	19221

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000711	0.770	125717	0	23	125740	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.16	183	233	0.787	0.0000146	2455
Missense in Polyphen		54	84.167	0.64158		921
Synonymous	-1.02	130	116	1.12	0.00000813	845
Loss of Function	1.01	6	9.32	0.644	4.00e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000508	0.000503
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000542	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol- calcium second messenger system.
• Pathway: Oxytocin signaling pathway - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;Myometrial Relaxation and Contraction Pathways;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Vasopressin-like receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.240

Intolerance Scores

• loftool: 0.634
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.98

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.389
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.800

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Oxtr
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; normal phenotype

Zebrafish Information Network

• Gene name: oxtr
• Affected structure: neurohypophysis
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: suckling behavior;response to amphetamine;regulation of systemic arterial blood pressure by vasopressin;muscle contraction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;heart development;female pregnancy;lactation;memory;positive regulation of norepinephrine secretion;telencephalon development;sleep;positive regulation of synaptic transmission, GABAergic;response to estradiol;response to progesterone;cellular response to hormone stimulus;response to anoxia;response to cytokine;social behavior;response to cocaine;maternal behavior;sperm ejaculation;eating behavior;response to peptide hormone;estrous cycle;positive regulation of blood pressure;positive regulation of vasoconstriction;digestive tract development;positive regulation of synapse assembly;positive regulation of synaptic transmission, glutamatergic;maternal process involved in parturition;positive regulation of penile erection;negative regulation of gastric acid secretion;ERK1 and ERK2 cascade;positive regulation of uterine smooth muscle contraction;positive regulation of cold-induced thermogenesis
• Cellular component: plasma membrane;integral component of plasma membrane;microvillus;cell-cell adherens junction;apical plasma membrane
• Molecular function: oxytocin receptor activity;vasopressin receptor activity;peptide hormone binding