EMP2 - epithelial membrane protein 2 Gene

Also Known as XMP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2013

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 Verweise 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 Verweise 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 Verweise 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

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (1 - 160)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS04360 EMP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18355 Emp2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24834 Emp2 Rat Pre-designed siRNA Set A Pre-designed Set / 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