OXTR
oxytocin receptor, the group of Arginine vasopressin and oxytocin receptors
Basic information
Region (hg38): 3:8750381-8769628
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (39 variants)
- not_provided (9 variants)
- OXTR-related_disorder (4 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. These statistics are base on transcript: NM_000000916.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | |||||
| missense | 37 | 43 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 37 | 8 | 5 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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