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FLASH GENE

Symbol

OXTR

contributors: mct/npt/pgu - updated : 09-06-2010

HGNC name	oxytocin receptor
HGNC id	8529

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p25.3      Physical location : 8.792.096 - 8.811.300
Synonym symbol(s)	OT-R, OTR

DNA

TYPE	functioning gene
STRUCTURE	19.21 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
text structure	a CpG island from 140 bp upstream to 2338 bp downstream of the transcription start site, methylated in the liver

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000916 4 - 4361 NP_000907 - 389 - 1997 9433921

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary         female system uterus     highly Respiratory respiratory tract trachea     highly Skin/Tegument skin       highly Urinary kidney       highly Visual eye

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	in the developing male external genitalia

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three N-glycosylation sites in its extracellular N-terminal domain
	seven transmembrane segments (7TM) receptor
	E/DRY motif involved not only in receptor activation but also in the promiscuity of G protein coupling

HOMOLOGY

Homologene

FAMILY

G-protein coupled receptor 1 family

CATEGORY

signaling hormone , receptor membrane G

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	oxytocin-oxytocin receptor system plays an important role in the uterus during parturition
	might be involved in coordinating timely and appropriate proliferation and migration of the penile cells
	exhibit promiscuous activity by coupling to both Galpha(q) and Galpha(i) G proteins to activate distinct signaling pathways
	role of OXTR and the oxytocin signaling pathway in the etiology of autism
	may be implicated in social cognition
	central role of this receptor in the functionality of oxytocin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

reproduction/sex

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism spectrum disorders (not play a major role) to variation of the prosocial disposition.

Variant & Polymorphism SNP	SNP (rs53576) known to predict prosocial tendencies is signaled through display behavior that leads to reliable observer inferences of the target prosociality

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS