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Aliases for EMP2 Gene

Aliases for EMP2 Gene

  • Epithelial Membrane Protein 2 2 3 5
  • XMP 3 4
  • Protein XMP 4
  • EMP-2 4

External Ids for EMP2 Gene

Previous GeneCards Identifiers for EMP2 Gene

  • GC16M010419
  • GC16M010771
  • GC16M010588
  • GC16M010593
  • GC16M010529
  • GC16M010622

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 Nephrotic Syndrome, Type 10 and Idiopathic Steroid-Sensitive Nephrotic Syndrome With Minimal Change. Gene Ontology (GO) annotations related to this gene include protein kinase binding and kinase binding. An important paralog of this gene is PMP22.

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

Additional gene information for EMP2 Gene

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

Genomics for EMP2 Gene

GeneHancer (GH) Regulatory Elements for EMP2 Gene

Promoters and enhancers for EMP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I010575 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553.4 +1.9 1895 6.2 PKNOX1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 ENSG00000260310 EMP2 SOCS1 HNRNPCP4 ENSG00000256013 NUBP1 LOC400499 ATF7IP2 GC16P010485 TEKT5
GH16I010557 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 562.3 +21.7 21689 2.4 BCOR FOXA2 TAF1 MAX ZMYM3 RAD21 YY1 ZNF121 POLR2A NR2F6 EMP2 ENSG00000256013 ENSG00000260310 GC16P010485
GH16I010509 Enhancer 1.1 Ensembl ENCODE 25.3 +71.0 70981 0.2 HDGF FOXA2 ARID4B IRF4 YY1 ARID2 ZNF207 ZNF143 DEK RXRA EMP2 RNU6-633P LINC01290 GC16P010485
GH16I010514 Enhancer 1 Ensembl ENCODE 26.8 +65.9 65887 1.1 CTCF FOXA2 MAX ZNF384 CEBPG DNMT3B RAD21 RARA YY1 TEAD3 EMP2 LINC01290 RNU6-633P GC16P010485
GH16I010608 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.4 -29.7 -29720 3.8 FOXA2 MLX ZNF48 ETS1 SLC30A9 ATF7 FOS RXRA SP5 MXD4 EMP2 CLEC16A LOC105371079 GC16P010485 TEKT5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EMP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMP2 gene promoter:

Genomic Locations for EMP2 Gene

Genomic Locations for EMP2 Gene
chr16:10,528,422-10,580,698
(GRCh38/hg38)
Size:
52,277 bases
Orientation:
Minus strand
chr16:10,622,279-10,674,555
(GRCh37/hg19)

Genomic View for EMP2 Gene

Genes around EMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 a heterodimer form (By similarity).

neXtProt entry for EMP2 Gene

Post-translational modifications for EMP2 Gene

  • Glycosylation at posLast=4444, posLast=4747, and Asn52

Other Protein References for EMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMP2 Gene

Domains & Families for EMP2 Gene

Gene Families for EMP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for EMP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54851

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for EMP2 Gene

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

Human Phenotype Ontology for EMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for EMP2 Gene

miRTarBase miRNAs that target EMP2

Clone Products

  • Addgene plasmids for EMP2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMP2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
golgi apparatus 4
cytosol 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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,IEA 21637765
GO:0005794 Golgi apparatus ISS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with EMP2: view

Pathways & Interactions for EMP2 Gene

No Data Available

Interacting Proteins for EMP2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/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: P54851-EMP2_HUMAN ENSP00000352540 for EMP2 Gene via IID STRING

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:0001952 regulation of cell-matrix adhesion IEA --
GO:0001954 positive regulation of cell-matrix adhesion IDA 16216233
GO:0003093 regulation of glomerular filtration IDA 24814193
genes like me logo Genes that share ontologies with EMP2: view

No data available for Pathways by source and SIGNOR curated interactions for EMP2 Gene

Drugs & Compounds for EMP2 Gene

(1) Additional Compounds for EMP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EMP2: view

Transcripts for EMP2 Gene

Unigene Clusters for EMP2 Gene

Epithelial membrane protein 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for EMP2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.1).

Protein differential expression in normal tissues from HIPED for EMP2 Gene

This gene is overexpressed in Ovary (51.7) and Liver (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EMP2 Gene



Protein tissue co-expression partners for EMP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EMP2 Gene:

EMP2

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).

Evidence on tissue expression from TISSUES for EMP2 Gene

  • Lung(4.8)
  • Spleen(4.2)
  • Intestine(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EMP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • respiratory
  • urinary
Regions:
Thorax:
  • lung
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • lymph vessel
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns 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 33 34
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia EMP2 33 34
  • 87.62 (n)
cow
(Bos Taurus)
Mammalia EMP2 33 34
  • 84.03 (n)
rat
(Rattus norvegicus)
Mammalia Emp2 33
  • 80.84 (n)
mouse
(Mus musculus)
Mammalia Emp2 33 16 34
  • 80.24 (n)
oppossum
(Monodelphis domestica)
Mammalia EMP2 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMP2 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMP2 33 34
  • 68.67 (n)
lizard
(Anolis carolinensis)
Reptilia EMP2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emp2 33
  • 68.72 (n)
Str.2727 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52916 33
zebrafish
(Danio rerio)
Actinopterygii emp2 33 34
  • 63.38 (n)
Species where no ortholog for EMP2 was found in the sources mined by GeneCards:
  • 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

(3) 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 Variation AA Info Type
rs587777481 pathogenic, Nephrotic syndrome, type 10 10,538,060(-) G/A coding_sequence_variant, stop_gained
rs587777482 pathogenic, Nephrotic syndrome, type 10, Nephrotic syndrome 10 (NPHS10) [MIM:615861] 10,547,590(-) C/T coding_sequence_variant, missense_variant
rs730882194 pathogenic, Nephrotic syndrome, type 10, Nephrotic syndrome 10 (NPHS10) [MIM:615861] 10,547,597(-) G/C coding_sequence_variant, missense_variant
rs1504883 benign, not specified 10,538,088(-) G/A/C intron_variant
rs1000007386 -- 10,571,164(-) G/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv528167 CNV loss 19592680
nsv516716 CNV loss 19592680
nsv1051406 CNV loss 25217958
nsv1043748 CNV gain 25217958
nsv1040428 CNV gain 25217958
esv3892791 CNV loss 25118596
esv3637906 CNV loss 21293372
esv3637903 CNV loss 21293372
esv2663799 CNV deletion 23128226

Variation tolerance for EMP2 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMP2 Gene

Human Gene Mutation Database (HGMD)
EMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMP2 Gene

Disorders for EMP2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for EMP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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.

Additional Disease Information for EMP2

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

No data available for Genatlas for EMP2 Gene

Publications for EMP2 Gene

  1. Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium. (PMID: 16216233) Wadehra M … Braun J (Developmental biology 2005) 2 3 4 22 58
  2. Functional consequences of interactions between FAK and epithelial membrane protein 2 (EMP2). (PMID: 19494199) Morales SA … Gordon LK (Investigative ophthalmology & visual science 2009) 3 4 22 58
  3. Steroid hormone regulation of EMP2 expression and localization in the endometrium. (PMID: 18400107) Wadehra M … Braun J (Reproductive biology and endocrinology : RB&E 2008) 3 4 22 58
  4. Epithelial membrane protein-2 is expressed in discrete anatomical regions of the eye. (PMID: 12710941) Wadehra M … Goodglick L (Experimental and molecular pathology 2003) 3 4 22 58
  5. Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. (PMID: 12107182) Wilson HL … North RA (The Journal of biological chemistry 2002) 3 4 22 58

Products for EMP2 Gene

  • Addgene plasmids for EMP2

Sources for EMP2 Gene

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