EMP2

EMP2
Identifiers
Aliases	EMP2 , NPHS10, XMP, epithelial membrane protein 2
External IDs	OMIM: 602334 MGI: 1098726 HomoloGene: 1089 GeneCards: EMP2
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p13.13 Start 10,528,422 bp [1] End 10,580,632 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 A1|16 5.54 cM Start 10,099,613 bp [2] End 10,131,832 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lower lobe of lung vulva right lung upper lobe of lung upper lobe of left lung nipple human penis visceral pleura cavity of mouth tibia Top expressed in right lung lobe left lung left lung lobe hair follicle lip skin of abdomen esophagus calvaria conjunctival fornix skin of back More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein kinase binding kinase binding protein binding integrin binding Cellular component caveola cytoplasm Golgi apparatus Golgi membrane nucleus apical part of cell apical plasma membrane membrane cell surface membrane raft plasma membrane cytoplasmic vesicle integral component of membrane cytosol Biological process regulation of kinase activity cell death T cell mediated cytotoxicity regulation of glomerular filtration regulation of angiogenesis positive regulation of cell-matrix adhesion cell-matrix adhesion actin filament organization bleb assembly protein localization to plasma membrane early endosome to late endosome transport positive regulation of cell population proliferation regulation of cell-matrix adhesion membrane raft assembly caveola assembly cell migration regulation of endothelial cell migration activation of protein kinase activity protein localization to cell surface actin-mediated cell contraction positive regulation of integrin-mediated signaling pathway regulation of vasculogenesis cell adhesion blood vessel endothelial cell migration cell population proliferation embryo implantation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2013 13731 Ensembl ENSG00000213853 ENSMUSG00000022505 UniProt P54851 O88662 RefSeq (mRNA) NM_001424 NM_007929 RefSeq (protein) NP_001415 NP_031955 Location (UCSC) Chr 16: 10.53 – 10.58 Mb Chr 16: 10.1 – 10.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Epithelial membrane protein 2 is a protein that in humans is encoded by the EMP2 gene. ^{[5] [6] [7] [8]}

Clinical significance

Mutations in EMP2 cause Childhood-Onset Nephrotic Syndrome. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000213853 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022505 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ben-Porath I, Benvenisty N (Feb 1997). "Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins". Gene. 183 (1–2): 69–75. doi:10.1016/S0378-1119(96)00475-1. PMID   8996089.
6. Liehr T, Kuhlenbaumer G, Wulf P, Taylor V, Suter U, Van Broeckhoven C, Lupski JR, Claussen U, Rautenstrauss B (Jul 1999). "Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3". Genomics. 58 (1): 106–8. doi:10.1006/geno.1999.5803. PMID   10331954.
7. Wadehra M, Forbes A, Pushkarna N, Goodglick L, Gordon LK, Williams CJ, Braun J (Nov 2005). "Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium". Dev Biol. 287 (2): 336–45. doi: 10.1016/j.ydbio.2005.09.003 . PMID   16216233.
8. "Entrez Gene: EMP2 epithelial membrane protein 2".
9. Gee, H. Y.; Ashraf, S; Wan, X; Vega-Warner, V; Esteve-Rudd, J; Lovric, S; Fang, H; Hurd, T. W.; Sadowski, C. E.; Allen, S. J.; Otto, E. A.; Korkmaz, E; Washburn, J; Levy, S; Williams, D. S.; Bakkaloglu, S. A.; Zolotnitskaya, A; Ozaltin, F; Zhou, W; Hildebrandt, F (2014). "Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome". The American Journal of Human Genetics. 94 (6): 884–90. doi:10.1016/j.ajhg.2014.04.010. PMC   4121470 . PMID   24814193.

Further reading

• Lobsiger CS, Magyar JP, Taylor V, et al. (1997). "Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1". Genomics. 36 (3): 379–87. doi:10.1006/geno.1996.0482. PMID   8884260.
• Taylor V, Suter U (1996). "Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family". Gene. 175 (1–2): 115–20. doi:10.1016/0378-1119(96)00134-5. PMID   8917086.
• Street VA, Goldy JD, Golden AS, et al. (2002). "Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies". Am. J. Hum. Genet. 70 (1): 244–50. doi:10.1086/337943. PMC   384893 . PMID   11713717.
• Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. Bibcode:2001PNAS...9815089X. doi: 10.1073/pnas.241522398 . PMC   64988 . PMID   11752456.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Wadehra M, Sulur GG, Braun J, et al. (2003). "Epithelial membrane protein-2 is expressed in discrete anatomical regions of the eye". Exp. Mol. Pathol. 74 (2): 106–12. doi:10.1016/S0014-4800(03)00009-1. PMID   12710941.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Shimazaki K, Wadehra M, Forbes A, et al. (2007). "Epithelial membrane protein 2 modulates infectivity of Chlamydia muridarum (MoPn)". Microbes Infect. 9 (8): 1003–10. doi: 10.1016/j.micinf.2007.04.004 . PMID   17544801.
• Forbes A, Wadehra M, Mareninov S, et al. (2007). "The tetraspan protein EMP2 regulates expression of caveolin-1". J. Biol. Chem. 282 (36): 26542–51. doi: 10.1074/jbc.M702117200 . PMID   17609206.