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Aliases for EMP2 Gene

Aliases for EMP2 Gene

  • Epithelial Membrane Protein 2 2 3
  • XMP 3 4
  • Protein XMP 4
  • EMP-2 4

External Ids for EMP2 Gene

Summaries for EMP2 Gene

Entrez Gene Summary for EMP2 Gene

  • 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]

GeneCards Summary for EMP2 Gene

EMP2 (Epithelial Membrane Protein 2) is a Protein Coding gene. Diseases associated with EMP2 include idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis and idiopathic steroid-sensitive nephrotic syndrome with minimal change. GO annotations related to this gene include integrin binding. An important paralog of this gene is EMP3.

UniProtKB/Swiss-Prot for EMP2 Gene

  • Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity).

Gene Wiki entry for EMP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMP2 Gene

Genomics for EMP2 Gene

Genomic Location for EMP2 Gene

Start:
10,528,422 bp from pter
End:
10,580,698 bp from pter
Size:
52,277 bases
Orientation:
Minus strand

Genomic View for EMP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMP2 Gene

Regulatory Elements for EMP2 Gene

Proteins for EMP2 Gene

  • Protein details for EMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54851-EMP2_HUMAN
    Recommended name:
    Epithelial membrane protein 2
    Protein Accession:
    P54851
    Secondary Accessions:
    • B2R7V6
    • D3DUF8

    Protein attributes for EMP2 Gene

    Size:
    167 amino acids
    Molecular mass:
    19199 Da
    Quaternary structure:
    • Interacts with PTK2; regulates PTK2 activation and localization (PubMed:19494199, PubMed:21637765). Interacts with ITGB3; regulates the levels of the heterodimer ITGA5-ITGB3 integrin surface expression (PubMed:16216233). Interacts with P2RX7 (via C-terminus) (PubMed:12107182). Interacts with ITGB1; the interaction may be direct or indirect and ITGB1 has an heterodimer form (By similarity).

neXtProt entry for EMP2 Gene

Proteomics data for EMP2 Gene at MOPED

Post-translational modifications for EMP2 Gene

  • Glycosylation at Asn44, Asn47, and Asn52

Other Protein References for EMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMP2 Gene

Domains for EMP2 Gene

UniProtKB/Swiss-Prot:

EMP2_HUMAN
Family:
  • Belongs to the PMP-22/EMP/MP20 family.:
    • P54851
genes like me logo Genes that share domains with EMP2: view

No data available for Gene Families for EMP2 Gene

Function for EMP2 Gene

Molecular function for EMP2 Gene

GENATLAS Biochemistry: epithelial membrane protein 2
UniProtKB/Swiss-Prot Function: Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity).
UniProtKB/Swiss-Prot Induction: Up-regulated by progesterone, increasing plasma membrane expression.

Gene Ontology (GO) - Molecular Function for EMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 16216233
GO:0005515 protein binding IPI 12107182
GO:0019900 kinase binding IPI 19494199
GO:0019901 protein kinase binding IPI 21637765
genes like me logo Genes that share ontologies with EMP2: view
genes like me logo Genes that share phenotypes with EMP2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EMP2 Gene

Localization for EMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMP2 Gene

Golgi apparatus membrane; Multi-pass membrane protein. Cell membrane. Apical cell membrane. Membrane raft. Cytoplasm. Nucleus. Note=Localizes in cytoplasm, foot processes and cell bodies of podocytes and nucleus of endothelial cells of kidney. Localizes to the apical cell surface in the luminal epithelium and glandular epithelium. Colocalized with ITGB1 and GPI-anchor proteins on plasma membrane. {ECO:0000250 UniProtKB:O88662, ECO:0000250 UniProtKB:Q66HH2}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EMP2 Gene COMPARTMENTS Subcellular localization image for EMP2 gene
Compartment Confidence
mitochondrion 3
plasma membrane 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for EMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IDA 21637765
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane IDA 12107182
genes like me logo Genes that share ontologies with EMP2: view

Pathways for EMP2 Gene

SuperPathways for EMP2 Gene

No Data Available

Interacting Proteins for EMP2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000352540%0d%0a9606.ENSP00000406027%0d%0a
Selected Interacting proteins: ENSP00000352540 P54851-EMP2_HUMAN for EMP2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for EMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001765 membrane raft assembly ISS --
GO:0001913 T cell mediated cytotoxicity ISS --
GO:0001954 positive regulation of cell-matrix adhesion IDA 16216233
GO:0003093 regulation of glomerular filtration IDA 24814193
GO:0007015 actin filament organization IDA 19494199
genes like me logo Genes that share ontologies with EMP2: view

No data available for Pathways by source for EMP2 Gene

Compounds for EMP2 Gene

(1) Novoseek inferred chemical compound relationships for EMP2 Gene

Compound -log(P) Hits PubMed IDs
lipid 11.9 5
genes like me logo Genes that share compounds with EMP2: view

Transcripts for EMP2 Gene

mRNA/cDNA for EMP2 Gene

Unigene Clusters for EMP2 Gene

Epithelial membrane protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMP2 Gene

No ASD Table

Relevant External Links for EMP2 Gene

GeneLoc Exon Structure for
EMP2
ECgene alternative splicing isoforms for
EMP2

Expression for EMP2 Gene

mRNA expression in normal human tissues for EMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMP2 Gene

This gene is overexpressed in Lung (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EMP2 Gene

SOURCE GeneReport for Unigene cluster for EMP2 Gene Hs.531561

mRNA Expression by UniProt/SwissProt for EMP2 Gene

P54851-EMP2_HUMAN
Tissue specificity: Expressed in ciliary body epithelia, sclera, cornea, and retinal pigment epithelium (at protein level) (PubMed:12710941).
genes like me logo Genes that share expressions with EMP2: view

Orthologs for EMP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMP2 36
  • 99.2 (n)
  • 98.8 (a)
EMP2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EMP2 36
  • 84.03 (n)
  • 81.44 (a)
EMP2 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMP2 36
  • 87.62 (n)
  • 85.03 (a)
EMP2 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emp2 36
  • 80.24 (n)
  • 77.84 (a)
Emp2 16
Emp2 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMP2 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMP2 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emp2 36
  • 80.84 (n)
  • 76.65 (a)
chicken
(Gallus gallus)
Aves EMP2 36
  • 68.67 (n)
  • 71.08 (a)
EMP2 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMP2 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52916 36
tropical clawed frog
(Silurana tropicalis)
Amphibia emp2 36
  • 68.72 (n)
  • 69.14 (a)
Str.2727 36
zebrafish
(Danio rerio)
Actinopterygii emp2 36
  • 63.38 (n)
  • 60.53 (a)
emp2 37
  • 60 (a)
OneToOne
Species with no ortholog for EMP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EMP2 Gene

ENSEMBL:
Gene Tree for EMP2 (if available)
TreeFam:
Gene Tree for EMP2 (if available)

Paralogs for EMP2 Gene

Paralogs for EMP2 Gene

Selected SIMAP similar genes for EMP2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for EMP2 Gene

genes like me logo Genes that share paralogs with EMP2: view

Variants for EMP2 Gene

Sequence variations from dbSNP and Humsavar for EMP2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs6944 -- 10,529,038(-) TGTGT(A/G)AATGT utr-variant-3-prime
rs10935 -- 10,529,408(-) TGCCT(C/T)TTCCC utr-variant-3-prime
rs12996 -- 10,529,447(-) ATCCA(C/T)CTGTG utr-variant-3-prime
rs14910 -- 10,528,720(+) GCCTT(A/G)CCCTA utr-variant-3-prime
rs1104833 -- 10,554,951(+) GAGGA(C/T)TGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EMP2 Gene

Variant ID Type Subtype PubMed ID
nsv905339 CNV Loss 21882294
esv2663799 CNV Deletion 23128226
nsv905340 CNV Loss 21882294
nsv516716 CNV Loss 19592680
nsv528167 CNV Loss 19592680

Relevant External Links for EMP2 Gene

HapMap Linkage Disequilibrium report
EMP2
Human Gene Mutation Database (HGMD)
EMP2

Disorders for EMP2 Gene

UniProtKB/Swiss-Prot

EMP2_HUMAN
  • Nephrotic syndrome 10 (NPHS10) [MIM:615861]: A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease. {ECO:0000269 PubMed:24814193}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for EMP2 Gene

(3) Novoseek inferred disease relationships for EMP2 Gene

Disease -log(P) Hits PubMed IDs
shock 5.77 2
tumors 0 5
cancer 0 1

Relevant External Links for EMP2

Genetic Association Database (GAD)
EMP2
genes like me logo Genes that share disorders with EMP2: view

Publications for EMP2 Gene

  1. Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium. (PMID: 16216233) Wadehra M. … Braun J. (Dev. Biol. 2005) 2 3 4 23
  2. Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. (PMID: 12107182) Wilson H.L. … North R.A. (J. Biol. Chem. 2002) 3 4 23
  3. Steroid hormone regulation of EMP2 expression and localization in the endometrium. (PMID: 18400107) Wadehra M. … Braun J. (Reprod. Biol. Endocrinol. 2008) 3 4 23
  4. Functional consequences of interactions between FAK and epithelial membrane protein 2 (EMP2). (PMID: 19494199) Morales S.A. … Gordon L.K. (Invest. Ophthalmol. Vis. Sci. 2009) 3 4 23
  5. Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. (PMID: 8917086) Taylor V. … Suter U. (Gene 1996) 3 4 23

Products for EMP2 Gene

Sources for EMP2 Gene

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