OXTR Gene(Protein Coding)

Oxytocin Receptor

GCID:: GC03M008767

GIFtS:: 70

Genes Participants

Aliases for OXTR Gene

Oxytocin Receptor ² ³ ⁵
OT-R ³ ⁴

External Ids for OXTR Gene

HGNC: 8529
Entrez Gene: 5021
Ensembl: ENSG00000180914
OMIM: 167055
UniProtKB: P30559

Previous GeneCards Identifiers for OXTR Gene

GC03M008721

Export aliases for OXTR gene to outside databases

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 Conduct Disorder and Asperger Syndrome. Among its related pathways are Peptide ligand-binding receptors and cAMP signaling pathway. 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

OXYR_HUMAN,P30559

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 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	Score	Enhancer Sources	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites within enhancer	Other Gene Targets for Enhancer

Enhancers around OXTR on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the OXTR gene promoter:

See All at QIAGEN

Regulatory Element Products

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:

3p25.3 by Ensembl
3p25 by Entrez Gene
3p25 by HGNC

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 — Genomic Neighborhood • Exon Structure • Gene 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

Proteomics data for OXTR Gene at MOPED

Protein Expression for OXTR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for OXTR Gene

Glycosylation at Asn 8, Asn 15, and Asn 26
- NX_P30559
Modification sites at PhosphoSitePlus
- P30559

Other Protein References for OXTR Gene

ENSEMBL proteins:

REFSEQ proteins:

NP_000907.2

Antibody Products

EMD Millipore Complete listing of Mono and Polychlonal Antibodies for OXTR

Browse R&D Systems for Antibodies

OriGene Antibodies for OXTR
Custom Antibody Services

Novus Biologicals Antibodies for OXTR

Search for Antibodies for OXTR at Abcam

Cloud-Clone Corp. Antibodies for OXTR
- PAC705Hu01
- MAC705Hu22

Invitrogen Antibodies for OXTR

antibodies-online Antibodies for OXTR: See all 94

GeneTex OXTR antibody for OXTR

Santa Cruz Biotechnology (SCBT) Antibodies for OXTR

Protein Products

EMD Millipore Purified and/or Recombinant OXTR Protein

Browse R&D Systems for Human Recombinant Proteins

Browse Enzo Life Sciences for proteins

OriGene Purified Proteins for OXTR
- NM_000916
- NM_000916
Search Origene for MassSpec and Protein Over-expression Lysates for OXTR
Origene Custom Protein Services for OXTR

GenScript Custom Purified and Recombinant Proteins Services for OXTR

Novus Biologicals proteins and lysates for OXTR

Browse ProSpec Recombinant Proteins

Cloud-Clone Corp. Proteins for OXTR
- RPC705Hu01

Search eBioscience for OXTR related proteins

antibodies-online Proteins for OXTR: See all 11
Search antibodies-online for peptides

Search GeneTex for Proteins for OXTR

Search for Proteins for OXTR at Abcam

Assay Products

Browse Kits and Assays available from EMD Millipore

Browse R&D Systems for biochemical assays

GenScript Activity-based Kinase Assay for Compound Screening for OXTR
GenScript Custom Assay Services for OXTR

Browse Enzo Life Sciences for kits & assays

Cloud-Clone Corp Assay Kits for OXTR
- SEC705Hu

Search eBioscience for OXTR related elisas

antibodies-online Kits for OXTR: See all 15

Search for Assays for OXTR at Abcam

No data available for DME Specific Peptides for OXTR Gene

Domains & Families for OXTR Gene

Gene Families for OXTR Gene

HGNC:

259 : Arginine vasopressin and oxytocin receptors

IUPHAR :

Protein Domains for OXTR Gene

InterPro:

Blocks:

ProtoNet:

P30559

Suggested Antigen Peptide Sequences for OXTR Gene

GenScript: Design optimal peptide antigens:

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.

Function for OXTR Gene

Molecular function for OXTR Gene

GENATLAS Biochemistry:

oxytocin receptor ,G protein coupled receptor superfamily

OXTR

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.

OXYR_HUMAN,P30559

Phenotypes for OXTR Gene

MGI mutant phenotypes for OXTR:

inferred from 6 alleles

GenomeRNAi human phenotypes for OXTR:

Animal Models for OXTR Gene

MGI Knock Outs for OXTR:

Oxtr ^tm1.2Wsy
Oxtr ^tm1.1Knis
Oxtr ^tm2.1Knis

Animal Model Products

Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study

ViGene Biosciences lentiviral particle packaged cDNA for OXTR gene
- LH815412
ViGene Biosciences ready-to-package AAV shRNAs for OXTR gene
- SH815412
Search ViGene Biosciences for OXTR

CRISPR Products

OriGene CRISPR knockouts for OXTR
- KN312707
- KN211797

Santa Cruz Biotechnology (SCBT) CRISPR for OXTR

GenScript: Design CRISPR guide RNA sequences for OXTR

miRNA for OXTR Gene

miRTarBase miRNAs that target OXTR

hsa-mir-1-3p (MIRT023713)

Addgene plasmids for OXTR

R&D Systems cDNA Clones for OXTR

Cell Line Products

GenScript OXTR - overexpressing Cell Line for Assay
GenScript Custom overexpressing Cell Line Services for OXTR

Browse ESI BIO Cell Lines and PureStem Progenitors for OXTR

Search Horizon for Cell Lines for OXTR

ViGene Biosciences adenoviral particle packaged cDNA for OXTR gene
- VH815412
ViGene Biosciences lentiviral particle packaged cDNA for OXTR gene
- LH815412
ViGene Biosciences ready-to-package AAV shRNAs for OXTR gene
- SH815412

Flow Cytometry Products

eBioscience FlowRNA Probe Sets

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

P30559-OXYR_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
plasma membrane	5
cytosol	3
nucleus	2
cytoskeleton	1
extracellular	1

Gene Ontology (GO) - Cellular Components for OXTR Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005913	cell-cell adherens junction	IEA	--
GO:0016021	integral component of membrane	IEA	--

Pathways & Interactions for OXTR Gene

SuperPathways for OXTR Gene

More details on SuperPathways for OXTR

	Superpath	Contained pathways
1	Peptide ligand-binding receptors	Class A/1 (Rhodopsin-like receptors) .72 GPCR ligand binding .72 Peptide ligand-binding receptors .60 GPCRs, Class A Rhodopsin-like .42	Neuroactive ligand-receptor interaction .36 Peptide GPCRs .31 Vasopressin-like receptors 1
2	Signaling by GPCR	GPCR downstream signaling .76 Signaling by GPCR .76	Signal Transduction .52
3	Interleukin-3, 5 and GM-CSF signaling	Gastrin-CREB signalling pathway via PKC and MAPK .55	G alpha (q) signalling events .44
4	Calcium signaling pathway	Calcium signaling pathway 1
5	cAMP signaling pathway	cAMP signaling pathway 1

Pathways by source for OXTR Gene

3 BioSystems pathways for OXTR Gene

9 Reactome pathways for OXTR Gene

4 KEGG pathways for OXTR Gene

Interacting Proteins for OXTR Gene

http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000324270%0d%0a9606.ENSP00000267017%0d%0a9606.ENSP00000378089%0d%0a9606.ENSP00000303452%0d%0a9606.ENSP00000368766%0d%0a9606.ENSP00000171757%0d%0a — STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins: ENSP00000324270 P30559-OXYR_HUMAN for OXTR Gene via STRING I2D

Symbol	External ID(s)	Details
ARRB2	ENSP00000269260 ²⁰ P32121 ²¹	STRING: ENSP00000269260 I2D: score=1
AVP	ENSP00000369647 ²⁰ P01185 ²¹	STRING: ENSP00000369647 I2D: score=1
GPRASP1	ENSP00000355146 ²⁰ Q5JY77 ²¹	STRING: ENSP00000355146 I2D: score=2
GRK5	ENSP00000376609 ²⁰ P34947 ²¹	STRING: ENSP00000376609 I2D: score=1
OXT	ENSP00000217386 ²⁰ P01178 ²¹	STRING: ENSP00000217386 I2D: score=1

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:0007166	cell surface receptor signaling pathway	TAS	1313946
GO:0007186	G-protein coupled receptor signaling pathway	IEA	--

Drugs & Compounds for OXTR Gene

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

Name	Status	Disease Links	Group	Role	Mechanism of Action	Clinical Trials
Oxytocin	Approved	MalaCards Medline Plus	Pharma	Full agonist, Agonist, agonist, Target	Involved in uterine contraction and lactation	376
Carbetocin	Approved	MalaCards Medline Plus	Pharma	agonist, Target	Oxytocin analog	35
Vasopressin	Approved	MalaCards Medline Plus	Pharma	Full agonist, Agonist, agonist		0
Desmopressin	Approved	MalaCards Medline Plus	Pharma	Full agonist, Agonist, stimulator	Synthetic vasopressin analog; V1B and V2 agonist	0
L-371,257		MalaCards Medline Plus	Pharma	Antagonist	Potent and selective oxytocin receptor antagonist	0

(35) Additional Compounds for OXTR Gene - From: Novoseek, IUPHAR, and Tocris

Name	Role	CAS Number	PubChem IDs
[<sup>3</sup>H]AVP	Full agonist, Agonist	MalaCards Medline Plus		7774575 11337500
AVT	Full agonist, Agonist	MalaCards Medline Plus		7774575 8955347
SR 49059	Antagonist	MalaCards Medline Plus		10519430 16158071
TC OT 39		MalaCards Medline Plus	479232-57-0
WAY 267464 dihydrochloride		MalaCards Medline Plus	1432043-31-6

(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

Drug Products

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Tocris compounds for OXTR

Browse compounds at ApexBio

Transcripts for OXTR Gene

mRNA/cDNA for OXTR Gene

(3) REFSEQ mRNAs :

(4) Additional mRNA sequences :

(77) Selected AceView cDNA sequences:

(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OXTR Gene

Oxytocin receptor:

Hs.2820

Representative Sequences:

NM_000916

CRISPR Products

OriGene CRISPR knockouts for OXTR
- KN312707
- KN211797

Santa Cruz Biotechnology (SCBT) CRISPR for OXTR

GenScript: Design CRISPR guide RNA sequences for OXTR

miRNA Products

Search ViGene Biosciences for OXTR

SwitchGear OXTR 3' UTR sequence
Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhibitory RNA Products

Origene siRNA, shRNA, rat_shrna, mouse_rna, and RNAi products in human, mouse, rat for OXTR
Browse OriGene Inhibitory RNA Products For OXTR

ViGene Biosciences ready-to-package AAV shRNAs for OXTR gene
- SH815412

Search Santa Cruz Biotechnology (SCBT) for OXTR siRNA/shRNA

Clone Products

OriGene clones in human for OXTR
OriGene ORF clones in human,mouse,rat for OXTR
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

GenScript: Next-day shipping cDNA clones in your preferred vector

Browse Sino Biological cDNA Clones

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat

Addgene plasmids for OXTR

R&D Systems cDNA Clones for OXTR

Flow Cytometry Products

eBioscience FlowRNA Probe Sets

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 for OXTR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Brain (Nervous System)
Mesenchymal Stem Cells (Uncategorized)
Umbilical Cord (Extraembryonic Tissues)
Blood (Hematopoietic System)
- Umbilical cord blood-derived mesenchymal stem cells (family)
- Umbilical cord blood-derived mesenchymal stem cells
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
Ovary (Reproductive System)
- Granulosa Cells Primary Follicle
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
Kidney (Urinary System)
Testis (Reproductive System)

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for OXTR Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for OXTR Gene

SOURCE GeneReport for Unigene cluster for OXTR Gene Hs.2820

Protein tissue co-expression partners for OXTR Gene

Primer Products

OriGene qPCR primer pairs and template standards for OXTR
- HK208429
OriGene qPCR primer pairs for OXTR
- HP200854

No data available for mRNA Expression by UniProt/SwissProt 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
cow (Bos Taurus)	Mammalia	OXTR ³⁵	88.32 (n) 89.95 (a)		281371 NM_174134.2 NP_776559.1
cow (Bos Taurus)	Mammalia	OXTR ³⁶	90 (a)	OneToOne	22:17817626-17827292
dog (Canis familiaris)	Mammalia	OXTR ³⁵	90.94 (n) 92.93 (a)		484670 NM_001198659.1 NP_001185588.1
dog (Canis familiaris)	Mammalia	OXTR ³⁶	71 (a)	OneToOne	20:9358197-9378248
mouse (Mus musculus)	Mammalia	Oxtr ³⁵	87.01 (n) 92.2 (a)		18430 NM_001081147.1 NP_001074616.1
		Oxtr ¹⁶			112473683
		Oxtr ³⁶	92 (a)	OneToOne	6:112473684-112489808
chimpanzee (Pan troglodytes)	Mammalia	OXTR ³⁵	99.23 (n) 98.97 (a)		738742 XM_001144020.3 XP_001144020.1
chimpanzee (Pan troglodytes)	Mammalia	OXTR ³⁶	99 (a)	OneToOne	3:8934843-8953915
rat (Rattus norvegicus)	Mammalia	Oxtr ³⁵	87.37 (n) 91.67 (a)		25342 NM_012871.2 NP_037003.2
oppossum (Monodelphis domestica)	Mammalia	OXTR ³⁶	74 (a)	OneToOne	6:241553358-241589304
platypus (Ornithorhynchus anatinus)	Mammalia	OXTR ³⁶	79 (a)	OneToOne	Contig3706:10369-12634
chicken (Gallus gallus)	Aves	OXTR ³⁵	77.91 (n) 77.91 (a)		429211 NM_001031569.1 NP_001026740.1
chicken (Gallus gallus)	Aves	OXTR ³⁶	74 (a)	OneToOne	12:19266278-19269440
lizard (Anolis carolinensis)	Reptilia	OXTR ³⁶	70 (a)	OneToOne	GL343273.1:1763300-1784557
tropical clawed frog (Silurana tropicalis)	Amphibia	LOC100493876 ³⁵	70.22 (n) 71.95 (a)		100493876 XM_002936251.2 XP_002936297.1
zebrafish (Danio rerio)	Actinopterygii	oxtrl ³⁵	68.1 (n) 70.77 (a)		796298 NM_001199369.1 NP_001186298.1
		oxtr ³⁶	63 (a)	OneToMany	6:41888144-41905069
		oxtrl ³⁶	65 (a)	OneToMany	6:46605901-46624263
fruit fly (Drosophila melanogaster)	Insecta	CG6111 ³⁷	29 (a)
fruit fly (Drosophila melanogaster)	Insecta	GRHR ³⁷	31 (a)

Species with no ortholog for OXTR:

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

AVPR1B ⁵
AVPR2 ⁵
GPR19 ⁵
GPR150 ⁵
AVPR1A ⁵
NPSR1 ⁵
GNRHR ⁵

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

Variants for OXTR Gene

Sequence variations from dbSNP and Humsavar for OXTR Gene

SNP ID	Clin	Chr 03 pos	Sequence Context	Type
rs237906	-	8,768,142(+)	GCTGG(A/C)GTTGG	reference, missense
rs4686302	-	8,767,536(+)	GCAGG(C/T)AGCGA	reference, missense
rs53576	--	8,762,685(+)	CGAGG(A/G)TCCTC	intron-variant
rs75775	--	8,779,046(+)	TCCTA(G/T)CCTTT	intron-variant
rs83622	--	8,840,029(-)	AATGA(A/C)AAGCC	intron-variant

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

Variant ID	Type	Subtype	PubMed ID
nsv876514	CNV	Gain	21882294
nsv516057	CNV	Loss	19592680
dgv5104n71	CNV	Loss	21882294
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

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

Disorders for OXTR Gene

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

Disorder	Aliases	PubMed IDs
conduct disorder
asperger syndrome	asperger disorder
adenomyosis	endometriosis of uterus
tricuspid valve stenosis	tricuspid stenosis
autism spectrum disorder	pervasive development disorder

- 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

Export disorders for OXTR gene to outside databases

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

Publications for OXTR Gene

Structure and expression of a human oxytocin receptor. (PMID: 1313946) Kimura T. … Okayama H. (Nature 1992) ² ³ ⁴ ⁶⁷
Binding domains of the oxytocin receptor for the selective oxytocin receptor antagonist barusiban in comparison to the agonists oxytocin and carbetocin. (PMID: 15740719) Gimpl G. … Reinheimer T. (Eur. J. Pharmacol. 2005) ²³ ²⁵ ²⁶
Variant in oxytocin receptor gene is associated with amygdala volume. (PMID: 21208749) Furman D.J. … Gotlib I.H. (Psychoneuroendocrinology 2011) ³ ²⁵
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 ²³
Immunoreactivity of oxytocin receptor and transient receptor potential vanilloid type 1 and its correlation with dysmenorrhea in adenomyosis. (PMID: 20096818) Nie J. … Guo S.W. (Am. J. Obstet. Gynecol. 2010) ³ ²³