Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 5021
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol OXTR   Gene   UCSC   Ensembl
Aliases OT-R
Gene name oxytocin receptor
Alternate names oxytocin receptor,
Gene location 3p25.3 (8769613: 8748578)     Exons: 4     NC_000003.12
Gene summary(Entrez) 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]
OMIM 167055

Protein Summary

Protein general information P30559  

Name: Oxytocin receptor (OT R)

Length: 389  Mass: 42,772

Sequence MEGALAANWSAEAANASAAPPGAEGNRTAGPPRRNEALARVEVAVLCLILLLALSGNACVLLALRTTRQKHSRLF
FFMKHLSIADLVVAVFQVLPQLLWDITFRFYGPDLLCRLVKYLQVVGMFASTYLLLLMSLDRCLAICQPLRSLRR
RTDRLAVLATWLGCLVASAPQVHIFSLREVADGVFDCWAVFIQPWGPKAYITWITLAVYIVPVIVLAACYGLISF
KIWQNLRLKTAAAAAAEAPEGAAAGDGGRVALARVSSVKLISKAKIRTVKMTFIIVLAFIVCWTPFFFVQMWSVW
DANAPKEASAFIIVMLLASLNSCCNPWIYMLFTGHLFHELVQRFLCCSASYLKGRRLGETSASKKSNSSSFVLSH
RSSSQRSCSQPSTA
Structural information
Interpro:  IPR000276 IPR017452 IPR002062 IPR001817
Prosite:   PS00237 PS50262

Pfam:  
PF00001
STRING:   ENSP00000324270;
Other Databases GeneCards:  OXTR;  Malacards:  OXTR

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001967 suckling behavior
IEA biological_process
GO:0001975 response to amphetamine
IEA biological_process
GO:0001992 regulation of systemic ar
terial blood pressure by
vasopressin
IBA biological_process
GO:0004990 oxytocin receptor activit
y
IEA molecular_function
GO:0005000 vasopressin receptor acti
vity
IBA molecular_function
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005902 microvillus
IEA cellular_component
GO:0005913 cell-cell adherens juncti
on
IEA cellular_component
GO:0006936 muscle contraction
TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007595 lactation
TAS biological_process
GO:0007613 memory
IEA biological_process
GO:0010701 positive regulation of no
repinephrine secretion
IEA biological_process
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0017046 peptide hormone binding
IEA molecular_function
GO:0021537 telencephalon development
IEA biological_process
GO:0030431 sleep
IEA biological_process
GO:0032230 positive regulation of sy
naptic transmission, GABA
ergic
IEA biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032570 response to progesterone
IEA biological_process
GO:0032870 cellular response to horm
one stimulus
IBA biological_process
GO:0034059 response to anoxia
IEA biological_process
GO:0034097 response to cytokine
IEA biological_process
GO:0035176 social behavior
IBA biological_process
GO:0042220 response to cocaine
IEA biological_process
GO:0042277 peptide binding
IBA molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0042711 maternal behavior
IBA biological_process
GO:0042713 sperm ejaculation
IEA biological_process
GO:0042755 eating behavior
IEA biological_process
GO:0043434 response to peptide hormo
ne
IEA biological_process
GO:0044849 estrous cycle
IEA biological_process
GO:0045777 positive regulation of bl
ood pressure
IEA biological_process
GO:0045907 positive regulation of va
soconstriction
IBA biological_process
GO:0048565 digestive tract developme
nt
IEA biological_process
GO:0051965 positive regulation of sy
napse assembly
IEA biological_process
GO:0051968 positive regulation of sy
naptic transmission, glut
amatergic
IEA biological_process
GO:0060137 maternal process involved
in parturition
IEA biological_process
GO:0060406 positive regulation of pe
nile erection
IEA biological_process
GO:0060455 negative regulation of ga
stric acid secretion
IEA biological_process
GO:0070371 ERK1 and ERK2 cascade
IEA biological_process
GO:0070474 positive regulation of ut
erine smooth muscle contr
action
IEA biological_process
GO:1901652 response to peptide
IBA biological_process
GO:0001967 suckling behavior
IEA biological_process
GO:0001975 response to amphetamine
IEA biological_process
GO:0001992 regulation of systemic ar
terial blood pressure by
vasopressin
IBA biological_process
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IEA molecular_function
GO:0004990 oxytocin receptor activit
y
IEA molecular_function
GO:0004990 oxytocin receptor activit
y
IEA molecular_function
GO:0004990 oxytocin receptor activit
y
TAS molecular_function
GO:0005000 vasopressin receptor acti
vity
IEA molecular_function
GO:0005000 vasopressin receptor acti
vity
IBA molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005902 microvillus
IEA cellular_component
GO:0005913 cell-cell adherens juncti
on
IEA cellular_component
GO:0006936 muscle contraction
TAS biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007565 female pregnancy
TAS biological_process
GO:0007595 lactation
TAS biological_process
GO:0007613 memory
IEA biological_process
GO:0010701 positive regulation of no
repinephrine secretion
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0017046 peptide hormone binding
IEA molecular_function
GO:0021537 telencephalon development
IEA biological_process
GO:0030431 sleep
IEA biological_process
GO:0032230 positive regulation of sy
naptic transmission, GABA
ergic
IEA biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032570 response to progesterone
IEA biological_process
GO:0032870 cellular response to horm
one stimulus
IBA biological_process
GO:0034059 response to anoxia
IEA biological_process
GO:0034097 response to cytokine
IEA biological_process
GO:0035176 social behavior
IEA biological_process
GO:0035176 social behavior
IBA biological_process
GO:0042220 response to cocaine
IEA biological_process
GO:0042277 peptide binding
IBA molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0042711 maternal behavior
IEA biological_process
GO:0042711 maternal behavior
IBA biological_process
GO:0042713 sperm ejaculation
IEA biological_process
GO:0042755 eating behavior
IEA biological_process
GO:0043434 response to peptide hormo
ne
IEA biological_process
GO:0044058 regulation of digestive s
ystem process
IEA biological_process
GO:0044849 estrous cycle
IEA biological_process
GO:0045777 positive regulation of bl
ood pressure
IEA biological_process
GO:0045907 positive regulation of va
soconstriction
IBA biological_process
GO:0048545 response to steroid hormo
ne
IEA biological_process
GO:0048565 digestive tract developme
nt
IEA biological_process
GO:0051965 positive regulation of sy
napse assembly
IEA biological_process
GO:0051968 positive regulation of sy
naptic transmission, glut
amatergic
IEA biological_process
GO:0060137 maternal process involved
in parturition
IEA biological_process
GO:0060406 positive regulation of pe
nile erection
IEA biological_process
GO:0060455 negative regulation of ga
stric acid secretion
IEA biological_process
GO:0070371 ERK1 and ERK2 cascade
IEA biological_process
GO:0070474 positive regulation of ut
erine smooth muscle contr
action
IEA biological_process
GO:1901652 response to peptide
IBA biological_process
GO:0001992 regulation of systemic ar
terial blood pressure by
vasopressin
IBA biological_process
GO:0004990 oxytocin receptor activit
y
TAS molecular_function
GO:0005000 vasopressin receptor acti
vity
IBA molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006936 muscle contraction
TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0007565 female pregnancy
TAS biological_process
GO:0007595 lactation
TAS biological_process
GO:0032870 cellular response to horm
one stimulus
IBA biological_process
GO:0035176 social behavior
IBA biological_process
GO:0042277 peptide binding
IBA molecular_function
GO:0042711 maternal behavior
IBA biological_process
GO:0045907 positive regulation of va
soconstriction
IBA biological_process
GO:1901652 response to peptide
IBA biological_process

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
hsa04020  Calcium signaling pathway
hsa04921  Oxytocin signaling pathway

Diseases

Associated diseases References
Adenomyosis PMID: 20413116
Asthenozoospermia PMID: 21090345
Attention-deficit hyperactivity disorder (ADHD) PMID: 11140838
Autism PMID: 15992526
Azoospermia PMID: 20711752
Depression PMID: 19515497
Dysmenorrhea PMID: 20096818
Endometriosis PMID: 28049501
Irritable bowel syndrome PMID: 19943975
Oligozoospermia PMID: 20711752
Endometriosis INFBASE28049501
Psychiatric disorders PMID: 19086053

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28049501 Endometrio
sis

69 (21 endometr
iosis patients(
17 ovarian endo
metriosis, 4 de
ep infiltrating
endometriosis)
, 48 controls (
36 cervical can
cer, 12 CIN III
))

Show abstract