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] See more...

Aliases for OXTR Gene

Aliases for OXTR Gene

  • Oxytocin Receptor 2 3 4 5
  • OT-R 3 4

External Ids for OXTR Gene

Previous GeneCards Identifiers for OXTR Gene

  • GC03M008721

Summaries for OXTR Gene

Entrez Gene Summary for OXTR Gene

  • 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]

GeneCards Summary for OXTR Gene

OXTR (Oxytocin Receptor) is a Protein Coding gene. Diseases associated with OXTR include Prosopagnosia and Alexithymia. Among its related pathways are Signaling by GPCR and Oxytocin signaling pathway. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and peptide hormone binding. An important paralog of this gene is AVPR1B.

UniProtKB/Swiss-Prot Summary for OXTR Gene

  • Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.

Tocris Summary for OXTR Gene

  • Oxytocin receptors (OT) are G-protein-coupled receptors that mediate parturition and lactation. They are closely related to vasopressin receptors. Oxytocin receptors are coupled to Gq/11 proteins and are localized to the myoepithelial cells of the mammary gland.

Gene Wiki entry for OXTR Gene

Additional gene information for OXTR Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OXTR Gene

Genomics for OXTR Gene

GeneHancer (GH) Regulatory Elements for OXTR Gene

Promoters and enhancers for OXTR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J008767 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 508.2 +84.7 84721 3.9 CTCF SIN3A TCF12 NRF1 MYC REST GABPA ZBTB26 RELA RAD21 OXTR RF01061-112 lnc-RAD18-1 CAV3
GH03J008855 Enhancer 0.4 Ensembl ENCODE 514.2 -1.9 -1929 1.9 USF2 OXTR lnc-SRGAP3-5 lnc-CAV3-2 RAD18
GH03J008854 Enhancer 0.2 Ensembl 517.4 -0.4 -352 0.6 OXTR lnc-SRGAP3-5 lnc-CAV3-2 RAD18
GH03J008961 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 7.8 -109.7 -109744 5.4 EP300 ZBTB40 ZNF217 SIN3A TCF12 NRF1 MYC POLR2G SP1 NCOR1 RAD18 lnc-CAV3-4 lnc-SRGAP3-3 ENSG00000199815 OXTR piR-48659
GH03J008868 Enhancer 1.1 FANTOM5 Ensembl ENCODE 13.1 -15.8 -15752 5 ZNF217 TCF12 JUND FOS CTBP1 ZBTB17 MBD2 FOSL2 CEBPB JUN OXTR ENSG00000199815 RAD18 lnc-SRGAP3-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXTR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXTR

Top Transcription factor binding sites by QIAGEN in the OXTR gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for OXTR Gene

Genomic Locations for OXTR Gene
chr3:8,750,408-8,854,549
(GRCh38/hg38)
Size:
104,142 bases
Orientation:
Minus strand
chr3:8,792,094-8,811,314
(GRCh37/hg19)
Size:
19,221 bases
Orientation:
Minus strand

Genomic View for OXTR Gene

Genes around OXTR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXTR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXTR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXTR Gene

Proteins for OXTR Gene

  • Protein details for OXTR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30559-OXYR_HUMAN
    Recommended name:
    Oxytocin receptor
    Protein Accession:
    P30559
    Secondary Accessions:
    • Q15071

    Protein attributes for OXTR Gene

    Size:
    389 amino acids
    Molecular mass:
    42772 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OXTR Gene

Post-translational modifications for OXTR Gene

  • Glycosylation at Asn8, Asn15, and Asn26
  • Modification sites at PhosphoSitePlus

Other Protein References for OXTR Gene

No data available for DME Specific Peptides for OXTR Gene

Domains & Families for OXTR Gene

Gene Families for OXTR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for OXTR Gene

Blocks:
  • Vasopressin receptor signature
  • Oxytocin receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OXTR Gene

GenScript: Design optimal peptide antigens:
  • Oxytocin receptor (A0T1J2_HUMAN)
  • cDNA, FLJ94454, highly similar to Homo sapiens oxytocin receptor (OXTR), mRNA (B2R9L7_HUMAN)
  • Oxytocin receptor (OXYR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30559

UniProtKB/Swiss-Prot:

OXYR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.
genes like me logo Genes that share domains with OXTR: view

Function for OXTR Gene

Molecular function for OXTR Gene

UniProtKB/Swiss-Prot Function:
Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.
GENATLAS Biochemistry:
oxytocin receptor ,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for OXTR Gene

Gene Ontology (GO) - Molecular Function for OXTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA,IBA 21873635
GO:0004990 oxytocin receptor activity IBA,IEA 21873635
GO:0005000 vasopressin receptor activity IEA,IBA 21873635
GO:0017046 peptide hormone binding IEA --
genes like me logo Genes that share ontologies with OXTR: view
genes like me logo Genes that share phenotypes with OXTR: view

Animal Models for OXTR Gene

MGI Knock Outs for OXTR:
  • Oxtr Oxtr<tm1.1Knis>
  • Oxtr Oxtr<tm1.2Wsy>
  • Oxtr Oxtr<tm2.1Knis>

Clone Products

  • Addgene plasmids for OXTR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OXTR Gene

Localization for OXTR Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXTR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXTR gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for OXTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,TAS 21873635
GO:0005902 microvillus IEA --
GO:0005913 cell-cell adherens junction IEA --
genes like me logo Genes that share ontologies with OXTR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OXTR Gene

Pathways & Interactions for OXTR Gene

genes like me logo Genes that share pathways with OXTR: view

SIGNOR curated interactions for OXTR Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for OXTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001967 suckling behavior IEA --
GO:0001975 response to amphetamine IEA --
GO:0001992 regulation of systemic arterial blood pressure by vasopressin IBA 21873635
GO:0006936 muscle contraction TAS 1313946
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with OXTR: view

Drugs & Compounds for OXTR Gene

(84) Drugs for OXTR Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxytocin Approved, Vet_approved Pharma Full agonist, Agonist, Target, agonist Involved in uterine contraction and lactation 599
Atosiban Approved, Investigational Pharma Antagonist, Target, antagonist mixed antagonist of oxytocin and vasopressin receptors 16
Carbetocin Approved, Investigational Pharma Target, agonist Oxytocin analog 57
Vasopressin Approved Pharma Full agonist, Agonist, Partial agonist, agonist 0
Desmopressin Approved Pharma Full agonist, Agonist, stimulator Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist 0

(29) Additional Compounds for OXTR Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]AVP
Full agonist, Agonist, Partial agonist
AVT
Full agonist, Agonist

(5) Tocris Compounds for OXTR Gene

Compound Action Cas Number
Carbetocin Oxytocin analog 37025-55-1
L-371,257 Potent and selective oxytocin receptor antagonist 162042-44-6
Oxytocin Involved in uterine contraction and lactation 50-56-6
TC OT 39 Potent non-peptide oxytocin receptor partial agonist; also V1a receptor antagonist 479232-57-0
WAY 267464 dihydrochloride Potent non-peptide oxytocin receptor agonist 1432043-31-6

(9) ApexBio Compounds for OXTR Gene

Compound Action Cas Number
(d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin 73168-24-8
Atosiban mixed antagonist of oxytocin and vasopressin receptors 90779-69-4
d[Cha4]-AVP
d[Leu4,Lys8]-VP 42061-33-6
L-368,899 hydrochloride 160312-62-9
L-371,257 162042-44-6
PF-3274167 Oral oxytocin antagonist 900510-03-4
TC OT 39 479232-57-0
WAY 267464 dihydrochloride 1432043-31-6
genes like me logo Genes that share compounds with OXTR: view

Drug Products

Transcripts for OXTR Gene

mRNA/cDNA for OXTR Gene

5 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for OXTR

Alternative Splicing Database (ASD) splice patterns (SP) for OXTR Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: -
SP6:

Relevant External Links for OXTR Gene

GeneLoc Exon Structure for
OXTR

Expression for OXTR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OXTR Gene

mRNA differential expression in normal tissues according to GTEx for OXTR Gene

This gene is overexpressed in Breast - Mammary Tissue (x11.5).

Protein differential expression in normal tissues from HIPED for OXTR Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (52.3) and Platelet (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OXTR Gene



Protein tissue co-expression partners for OXTR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OXTR

SOURCE GeneReport for Unigene cluster for OXTR Gene:

Hs.2820

Evidence on tissue expression from TISSUES for OXTR Gene

  • Nervous system(3.1)
  • Kidney(2.3)
  • Muscle(2.3)
  • Skin(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with OXTR: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXTR Gene

Orthologs for OXTR Gene

This gene was present in the common ancestor of animals.

Orthologs for OXTR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OXTR 31 30
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OXTR 31 30
  • 90.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OXTR 31 30
  • 88.32 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oxtr 30
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Oxtr 17 31 30
  • 87.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OXTR 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OXTR 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves OXTR 31 30
  • 77.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OXTR 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493876 30
  • 70.22 (n)
zebrafish
(Danio rerio)
Actinopterygii oxtrl 31 30
  • 68.1 (n)
OneToMany
oxtr 31
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta GRHR 32
  • 31 (a)
CG6111 32
  • 29 (a)
Species where no ortholog for OXTR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OXTR Gene

ENSEMBL:
Gene Tree for OXTR (if available)
TreeFam:
Gene Tree for OXTR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OXTR: view image

Paralogs for OXTR Gene

(5) SIMAP similar genes for OXTR Gene using alignment to 6 proteins:

  • OXYR_HUMAN
  • A0T1J2_HUMAN
  • B2R9L7_HUMAN
  • C9JN09_HUMAN
  • C9JQC4_HUMAN
  • L8E6Y2_HUMAN
genes like me logo Genes that share paralogs with OXTR: view

Variants for OXTR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXTR Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
715951 Benign: not provided 8,753,079(-) G/T SYNONYMOUS_VARIANT
723037 Benign: not provided 8,753,043(-) C/T SYNONYMOUS_VARIANT
726143 Likely Benign: not provided 8,767,828(-) C/A SYNONYMOUS_VARIANT
754229 Likely Benign: not provided 8,767,483(-) G/T SYNONYMOUS_VARIANT
767884 Benign: not provided 8,767,673(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for OXTR Gene

Structural Variations from Database of Genomic Variants (DGV) for OXTR Gene

Variant ID Type Subtype PubMed ID
nsv1011096 CNV loss 25217958
nsv516057 CNV loss 19592680
nsv589619 CNV loss 21841781
nsv819115 CNV gain 19587683

Variation tolerance for OXTR Gene

Residual Variation Intolerance Score: 40.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OXTR Gene

Human Gene Mutation Database (HGMD)
OXTR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXTR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXTR Gene

Disorders for OXTR Gene

MalaCards: The human disease database

(22) MalaCards diseases for OXTR Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prosopagnosia
alexithymia
adenomyosis
  • endometriosis of uterus
postpartum depression
  • maternity blues
conduct disorder
- elite association - COSMIC cancer census association via MalaCards
Search OXTR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OXTR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OXTR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OXTR Gene

Publications for OXTR Gene

  1. Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. (PMID: 20094064) Liu X … Sasaki T (Journal of human genetics 2010) 3 23 41 54
  2. Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies. (PMID: 20303388) Tansey KE … Anney RJL (Neuroscience letters 2010) 3 23 41 54
  3. The oxytocin receptor (OXTR) contributes to prosocial fund allocations in the dictator game and the social value orientations task. (PMID: 19461999) Israel S … Ebstein RP (PloS one 2009) 3 23 41 54
  4. Oxytocin receptor (OXTR) and serotonin transporter (5-HTT) genes associated with observed parenting. (PMID: 19015103) Bakermans-Kranenburg MJ … van Ijzendoorn MH (Social cognitive and affective neuroscience 2008) 3 23 41 54
  5. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. (PMID: 17893705) Lerer E … Ebstein RP (Molecular psychiatry 2008) 3 23 41 54

Products for OXTR Gene

  • Addgene plasmids for OXTR

Sources for OXTR Gene