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FLASH GENE

Symbol

EMP2

contributors: shn/npt - updated : 18-06-2014

HGNC name	epithelial membrane protein 2
HGNC id	3334

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SSNS2 steroid-sensitive nephrotic syndrome 2
Location	16p13.13      Physical location : 10.622.279 - 10.674.539
Synonym name	tetraspan protein epithelial membrane protein-2
	protein XMP
Synonym symbol(s)	XMP, MGC9056, EMP-2

DNA

TYPE	functioning gene
STRUCTURE	52.26 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D16S407 - D16S446 - EMP2 - D16S3078 - D16S414 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001424 5 - 5186 NP_001415 18 167 skin, lung, uterus, heart, thyroid. In eye: cornea, ciliary body and retinal pigment epithelium Wadehra et al, 2003

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 Cardiovascular vessel       highly Rattus norvegicus Digestive intestine       highly Endocrine thyroid       highly Nervous brain       lowly Homo sapiens Reproductive female system ovary     highly Urinary kidney nephron renal capsule glomerulus   Rattus norvegicus Visual eye retina     highly Homo sapiens   eye anterior segment cornea   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Rattus norvegicus Urinary podocyte Rattus norvegicus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a carbohydrate linked chain with 3 N-linked glycosylation motifs in the extracellular domain
	four membrane spanning domains, homologous to the PMP22 protein

HOMOLOGY

interspecies	ortholog to Emp2, Mus musculus
	ortholog to Emp2, Rattus norvegicus
	ortholog to EMP2, Pan troglodytes
	ortholog to emp2, Danio rerio

Homologene

FAMILY

Growth arrest specific-3/peripheral myelin protein 22(GAS3/PMP22) family

CATEGORY

regulatory , tumor suppressor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	in glomeruli, EMP2 localizes to the cytoplasm of podocytes, and in endothelial cells, detected predominantly in the nucleus

basic FUNCTION	involved in cell proliferation and cell-cell interaction
	regulates surface expression of ITGB3 in the endometrium, and plays an important role in blastocyst implantation with the uterine endometrium, in part through its direct association and regulation of ITGB3
	playing a role in apical membrane recycling
	key regulator of cell membrane composition, and playing an important role in maintaining plasma membrane structure and function
	mediates surface display of diverse proteins, is required for endometrial competence in blastocyst implantation
	required for endometrial competence in blastocyst implantation
	EMP2-PTK2 association is a significant functional cellular responses in the context of in vitro models of proliferative vitreoretinopathy (Morales et al, 2009)
	has a role in the functional assembly of membrnane signaling complexes important for activation of FAK (Morales et al, 2009)
	promotes endometrial tumor formation through activation of PTK2 and SRC

CELLULAR PROCESS	cell life, proliferation/growth
	cell communication

PHYSIOLOGICAL PROCESS

cell to cell transport , cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	regulates surface expression of alphavbeta3 integrin in the endometrium (Wadehra et al, 2005)
	regulator of caveolin-1 expression, CAV1 (Forbes et al, 2007)
	PTK2 protein tyrosine kinase 2, PTK2 (Morales et al, 2009)
	regulate the amount of CAV1, which is the primary structural component of caveolae, flask-shaped invaginations in the plasma membrane
	connection between EMP2 and VEGFA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SSNS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in endometrial carcinoma with unfavorable outcome tumoral     --over   in glioblastoma (GBM) constitutional     --over   within normal human endometrium, EMP2 expression is upregulated in the secretory phase relative to the proliferative phase

Susceptibility

Variant & Polymorphism

Candidate gene	candidate host protein involved in infection of C. muridarum (MoPn) (Shimazaki et al, 2007)
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma anti-EMP2 treatment may be a novel therapeutic treatment cancer reproductive uterus potential pharmacologic target for human endometrial cancer neurosensorial visual retina modulation of EMP2 with impact on VEGF is potentially a distinct therapeutic target for the treatment of neovascularization associated with retinal diseases that involve pathologic angiogenesis neurosensorial visual anterior chamber potential therapeutic target for proliferative vitreoretinopathy (PVR)

ANIMAL & CELL MODELS