ENSG00000213853


Homo sapiens

Features
Gene ID: ENSG00000213853
  
Biological name :EMP2
  
Synonyms : EMP2 / epithelial membrane protein 2 / P54851
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.13
Gene start: 10528422
Gene end: 10580698
  
Corresponding Affymetrix probe sets: 204975_at (Human Genome U133 Plus 2.0 Array)   225078_at (Human Genome U133 Plus 2.0 Array)   225079_at (Human Genome U133 Plus 2.0 Array)   238500_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000352540
Ensembl peptide - ENSP00000445712
NCBI entrez gene - 2013     See in Manteia.
OMIM - 602334
RefSeq - XM_006720864
RefSeq - NM_001424
RefSeq Peptide - NP_001415
swissprot - P54851
Ensembl - ENSG00000213853
  
Related genetic diseases (OMIM): 615861 - Nephrotic syndrome, type 10, 615861
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 emp2ENSDARG00000044588Danio rerio
 EMP2ENSGALG00000027058Gallus gallus
 Emp2ENSMUSG00000022505Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PMP22 / Q01453 / peripheral myelin protein 22ENSG0000010909943
EMP1 / P54849 / epithelial membrane protein 1ENSG0000013453140
EMP3 / P54852 / epithelial membrane protein 3ENSG0000014222738


Protein motifs (from Interpro)
Interpro ID Name
 IPR003933  Epithelial membrane protein 2
 IPR004031  PMP-22/EMP/MP20/Claudin superfamily
 IPR004032  PMP-22/EMP/MP20


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001765 membrane raft assembly ISS
 biological_processGO:0001913 T cell mediated cytotoxicity ISS
 biological_processGO:0001952 regulation of cell-matrix adhesion IEA
 biological_processGO:0001954 positive regulation of cell-matrix adhesion IDA
 biological_processGO:0003093 regulation of glomerular filtration IDA
 biological_processGO:0007015 actin filament organization IDA
 biological_processGO:0007155 cell adhesion IDA
 biological_processGO:0007160 cell-matrix adhesion IDA
 biological_processGO:0007566 embryo implantation IMP
 biological_processGO:0008219 cell death IDA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0010594 regulation of endothelial cell migration IDA
 biological_processGO:0016477 cell migration IDA
 biological_processGO:0032060 bleb assembly IDA
 biological_processGO:0032147 activation of protein kinase activity IDA
 biological_processGO:0034394 protein localization to cell surface IMP
 biological_processGO:0043534 blood vessel endothelial cell migration IDA
 biological_processGO:0043549 regulation of kinase activity IDA
 biological_processGO:0045022 early endosome to late endosome transport ISS
 biological_processGO:0045765 regulation of angiogenesis IMP
 biological_processGO:0070252 actin-mediated cell contraction IDA
 biological_processGO:0072659 protein localization to plasma membrane ISS
 biological_processGO:2001046 positive regulation of integrin-mediated signaling pathway IDA
 biological_processGO:2001212 regulation of vasculogenesis IDA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle ISS
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045177 apical part of cell ISS
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019900 kinase binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0012579 Minimal change glomerulonephritis "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer]
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 HP:0012588 Steroid-resistant nephrotic syndrome "A form of nephrotic syndrome that does not respond to treatment with steroid medication." [Eurenomics:ewuehl]
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 HP:0031266 Podocyte foot process effacement "An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier." [PMID:23235479]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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