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Aliases for OXTR Gene

Aliases for OXTR Gene

  • Oxytocin Receptor 2 3 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 Alexithymia and Asperger Syndrome. Among its related pathways are Peptide ligand-binding receptors and RET signaling. 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 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

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OXTR Gene

Genomics for OXTR Gene

Regulatory Elements for OXTR Gene

Enhancers for OXTR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G008739 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 +113.2 113190 3.6 ARID4B ZNF2 GLIS2 FOS SP3 SP5 REST SREBF1 MBD2 SMARCA4 OXTR CAV3 SSUH2
GH03G008868 1.3 FANTOM5 Ensembl ENCODE 11.8 -15.3 -15295 2.8 JUN SIN3A ZKSCAN1 TEAD3 FOSL1 CTBP1 GATA3 GATA2 FOSL2 FOS OXTR ENSG00000199815 RAD18 GC03P008932
GH03G008850 0.7 ENCODE 19.4 +2.7 2681 2.2 CBX3 PKNOX1 KLF1 GATA3 NCOR1 TRIM24 SMARCE1 RNF2 L3MBTL2 NRF1 OXTR SSUH2
GH03G008961 1.1 ENCODE 7.8 -109.9 -109893 5.1 FOXA2 CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 FOS KLF13 ENSG00000199815 RAD18 OXTR SRGAP3-AS1
GH03G008954 1.1 Ensembl ENCODE 7.6 -100.6 -100585 1.3 CTCF PKNOX1 SAP130 ARID4B EBF1 RAD21 RELB IKZF2 EZH2 MTA2 ENSG00000199815 OXTR RAD18 PIR59826
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OXTR on UCSC Golden Path with GeneCards custom track

Genomic Location for OXTR Gene

Chromosome:
3
Start:
8,750,408 bp from pter
End:
8,854,549 bp from pter
Size:
104,142 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 posLast=88, posLast=1515, 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

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

GENATLAS Biochemistry:
oxytocin receptor ,G protein coupled receptor superfamily
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.

Gene Ontology (GO) - Molecular Function for OXTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004990 oxytocin receptor activity IEA,IBA --
GO:0005000 vasopressin receptor activity IBA,IEA --
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:

Animal Model Products

miRNA for OXTR Gene

miRTarBase miRNAs that target OXTR

Inhibitory RNA Products

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
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for OXTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10858434
GO:0005902 microvillus IEA --
GO:0005913 cell-cell adherens junction IEA --
genes like me logo Genes that share ontologies with OXTR: view

Pathways & Interactions for OXTR Gene

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

SIGNOR curated interactions for OXTR Gene

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 --
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, agonist, Target Involved in uterine contraction and lactation 439
Carbetocin Approved Pharma agonist, Target Oxytocin analog 36
Vasopressin Approved Pharma Full agonist, Agonist, agonist 0
Desmopressin Approved Pharma Full agonist, Agonist, stimulator Hemostatic and anti-diuretic 0
L-371,257 Pharma Antagonist Potent and selective oxytocin receptor antagonist 0

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

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

(5) Tocris Compounds for OXTR Gene

Compound Action Cas Number
Carbetocin Oxytocin analog 37025-55-1
L-368,899 hydrochloride Potent, non-peptide oxytocin receptor antagonist 160312-62-9
L-371,257 Potent and selective oxytocin receptor antagonist 162042-44-6
Oxytocin Involved in uterine contraction and lactation 50-56-6
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

Unigene Clusters for OXTR Gene

Oxytocin receptor:
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
OXTR

Expression for OXTR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for OXTR Gene



Protein tissue co-expression partners for OXTR Gene

NURSA nuclear receptor signaling pathways regulating expression of OXTR Gene:

OXTR

SOURCE GeneReport for Unigene cluster for OXTR Gene:

Hs.2820

Evidence on tissue expression from TISSUES for OXTR Gene

  • Nervous system(3)
  • Kidney(2.3)
  • Muscle(2.3)
  • Skin(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with OXTR: view

Primer Products

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 35 34
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OXTR 34 35
  • 90.94 (n)
cow
(Bos Taurus)
Mammalia OXTR 34 35
  • 88.32 (n)
rat
(Rattus norvegicus)
Mammalia Oxtr 34
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Oxtr 34 16 35
  • 87.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OXTR 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OXTR 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves OXTR 34 35
  • 77.91 (n)
lizard
(Anolis carolinensis)
Reptilia OXTR 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493876 34
  • 70.22 (n)
zebrafish
(Danio rerio)
Actinopterygii oxtrl 34 35
  • 68.1 (n)
oxtr 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta GRHR 36
  • 31 (a)
CG6111 36
  • 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)

Paralogs for OXTR Gene

Paralogs for OXTR Gene

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

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

Variants for OXTR Gene

Sequence variations from dbSNP and Humsavar for OXTR Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000018443 -- 8,761,794(+) AGAGG(A/G)TGTCA intron-variant
rs1000136584 -- 8,767,555(+) ACCGG(A/C)ACGAT reference, synonymous-codon
rs1000584092 -- 8,757,698(+) GCCAG(A/G)CTGCA intron-variant
rs1000858546 -- 8,766,317(+) ACAAA(A/C)CCCAG intron-variant
rs1000934937 -- 8,758,016(+) ACTAG(A/G)GGTGG intron-variant

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)

Relevant External Links for OXTR Gene

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

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

Disorders for OXTR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alexithymia
asperger syndrome
  • asperger disorder
conduct disorder
adenomyosis
  • endometriosis of uterus
anoxia
- elite association - COSMIC cancer census association via MalaCards
Search OXTR in MalaCards View complete list of genes associated with diseases

Relevant External Links for OXTR

Genetic Association Database (GAD)
OXTR
Human Genome Epidemiology (HuGE) Navigator
OXTR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OXTR
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. (J. Hum. Genet. 2010) 3 22 46 64
  2. Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies. (PMID: 20303388) Tansey K.E. … Anney R.J. (Neurosci. Lett. 2010) 3 22 46 64
  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 R.P. (PLoS ONE 2009) 3 22 46 64
  4. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. (PMID: 17893705) Lerer E. … Ebstein R.P. (Mol. Psychiatry 2008) 3 22 46 64
  5. Oxytocin receptor (OXTR) and serotonin transporter (5-HTT) genes associated with observed parenting. (PMID: 19015103) Bakermans-Kranenburg M.J. … van Ijzendoorn M.H. (Soc Cogn Affect Neurosci 2008) 3 22 46 64

Products for OXTR Gene

  • Addgene plasmids for OXTR

Sources for OXTR Gene

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