EMP2 - epithelial membrane protein 2 Gene

Homo sapiens

Also known as XMP

Gene ID: 2013 | Gene type: protein coding

About EMP2

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:10,528,422-10,580,598 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in lung (RPKM 155.3), skin (RPKM 53.3) and 9 other tissues.

Summary

This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, Cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific Integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to Cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]

EMP2 Products(1)

mRNA	Protein	Name
NM_001424.6	NP_001415.1	epithelial membrane protein 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables integrin binding	IPI IPI: Inferred from physical interaction	16216233	GOA
enables kinase binding	IPI IPI: Inferred from physical interaction	19494199	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12107182	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin filament organization	IDA IDA: Inferred from direct assay	19494199	GOA
involved in actin-mediated cell contraction	IDA IDA: Inferred from direct assay	18469192	GOA
involved in apoptotic process	IDA IDA: Inferred from direct assay	12107182	GOA
involved in bleb assembly	IDA IDA: Inferred from direct assay	12107182	GOA
involved in blood vessel endothelial cell migration	IDA IDA: Inferred from direct assay	23439602	GOA
involved in cell adhesion	IDA IDA: Inferred from direct assay	19494199	GOA
involved in cell-matrix adhesion	IDA IDA: Inferred from direct assay	19494199	GOA
involved in embryo implantation	IMP IMP: Inferred from mutant phenotype	16487956	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	24814193	GOA
acts upstream of or within positive regulation of cell-matrix adhesion	IDA IDA: Inferred from direct assay	16216233	GOA
acts upstream of or within positive regulation of integrin-mediated signaling pathway	IDA IDA: Inferred from direct assay	16216233	GOA
involved in protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	16216233	GOA
involved in regulation of angiogenesis	IDA IDA: Inferred from direct assay	23334331	GOA
involved in regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	23439602	GOA
involved in regulation of endothelial cell migration	IDA IDA: Inferred from direct assay	23334331	GOA
involved in regulation of glomerular filtration	IDA IDA: Inferred from direct assay	24814193	GOA
involved in regulation of kinase activity	IDA IDA: Inferred from direct assay	18469192	GOA
involved in regulation of vasculogenesis	IDA IDA: Inferred from direct assay	23334331	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18400107	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12107182	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EMP2 Protein Structure

PMP22_Claudin

0
100
167 a.a.

Protein Preferred Names

Protein Names

epithelial membrane protein 2

Related Diseases

Diseases

Alias

Nephrotic Syndrome, Type 10

NPHS10	Nephrotic Syndrome Type 10
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic Syndrome 10

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Genetic Srns
Hereditary Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Nephrotic Syndrome
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive	Srn1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Pyosalpinx

Pyosalpingitis

Focal Segmental Glomerulosclerosis 9

FSGS9	Glomerulosclerosis, Focal Segmental, 9
Glomerulosclerosis, Focal Segmental, Type 9

Focal Segmental Glomerulosclerosis 8

FSGS8	Glomerulosclerosis, Focal Segmental, 8
Glomerulosclerosis, Focal Segmental, Type 8

Diamond-Blackfan Anemia 10

DBA10	Rps26-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 10

Adenoid Squamous Cell Carcinoma

Acantholytic Squamous Cell Carcinoma	Adenocarcinoma With Squamous Metaplasia
Adenoacanthoma	Pseudoglandular Squamous Carcinoma

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04360	EMP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EMP2	VGNC	VGNC:28482
Macaca mulatta	EMP2	VGNC	VGNC:104725
Rattus norvegicus	EMP2	RGD	RGD:1359629
Canis familiaris	EMP2	VGNC	VGNC:40353
Felis catus	EMP2	VGNC	VGNC:61853
Mus musculus	EMP2	MGD	MGI:1098726
Others	EMP2	NCBI

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