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)
End	10,580,632 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	10,131,832 bp
RNA expression pattern
	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
	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
	2013
	13731
	ENSG00000213853
	ENSMUSG00000022505
	P54851
	O88662
	NM_001424
	NM_007929
	NP_001415
	NP_031955
	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 2 3 GRCh38: Ensembl release 89: ENSG00000213853 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022505 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ 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.
↑ "Entrez Gene: EMP2 epithelial membrane protein 2".
↑ 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000213853 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid8996089-5] 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.

[pmid10331954-6] 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.

[pmid16216233-7] 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.

[entrez-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.

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Clinical significance

References

Further reading