EMP2 explained

Epithelial membrane protein 2 is a protein that in humans is encoded by the EMP2 gene.^{[1] [2] [3] [4]}

Clinical significance

Mutations in EMP2 cause childhood-onset nephrotic syndrome.^[5]

Further reading

• Lobsiger CS, Magyar JP, Taylor V, Wulf P, Welcher AA, Program AE, Suter U . Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1 . Genomics . 36 . 3 . 379–387 . September 1996 . 8884260 . 10.1006/geno.1996.0482 .
• Taylor V, Suter U . Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family . Gene . 175 . 1-2 . 115–120 . October 1996 . 8917086 . 10.1016/0378-1119(96)00134-5 .
• Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF . Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies . American Journal of Human Genetics . 70 . 1 . 244–250 . January 2002 . 11713717 . 384893 . 10.1086/337943 .
• Xu XR, Huang J, Xu ZG, Qian BZ, Zhu ZD, Yan Q, Cai T, Zhang X, Xiao HS, Qu J, Liu F, Huang QH, Cheng ZH, Li NG, Du JJ, Hu W, Shen KT, Lu G, Fu G, Zhong M, Xu SH, Gu WY, Huang W, Zhao XT, Hu GX, Gu JR, Chen Z, Han ZG . Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver . Proceedings of the National Academy of Sciences of the United States of America . 98 . 26 . 15089–15094 . December 2001 . 11752456 . 64988 . 10.1073/pnas.241522398 . free . 2001PNAS...9815089X .
• Wadehra M, Sulur GG, Braun J, Gordon LK, Goodglick L . Epithelial membrane protein-2 is expressed in discrete anatomical regions of the eye . Experimental and Molecular Pathology . 74 . 2 . 106–112 . April 2003 . 12710941 . 10.1016/S0014-4800(03)00009-1 .
• Shimazaki K, Wadehra M, Forbes A, Chan AM, Goodglick L, Kelly KA, Braun J, Gordon LK . Epithelial membrane protein 2 modulates infectivity of Chlamydia muridarum (MoPn) . Microbes and Infection . 9 . 8 . 1003–1010 . July 2007 . 17544801 . 10.1016/j.micinf.2007.04.004 . free .
• Forbes A, Wadehra M, Mareninov S, Morales S, Shimazaki K, Gordon LK, Braun J . The tetraspan protein EMP2 regulates expression of caveolin-1 . The Journal of Biological Chemistry . 282 . 36 . 26542–26551 . September 2007 . 17609206 . 10.1074/jbc.M702117200 . free .

Notes and References

1. Ben-Porath I, Benvenisty N . Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins . Gene . 183 . 1–2 . 69–75 . Feb 1997 . 8996089 . 10.1016/S0378-1119(96)00475-1 .
2. Liehr T, Kuhlenbaumer G, Wulf P, Taylor V, Suter U, Van Broeckhoven C, Lupski JR, Claussen U, Rautenstrauss B . 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 . Jul 1999 . 10331954 . 10.1006/geno.1999.5803 .
3. Wadehra M, Forbes A, Pushkarna N, Goodglick L, Gordon LK, Williams CJ, Braun J . Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium . Dev Biol . 287 . 2 . 336–45 . Nov 2005 . 16216233 . 10.1016/j.ydbio.2005.09.003 . free .
4. Web site: Entrez Gene: EMP2 epithelial membrane protein 2.
5. Gee HY, Ashraf S, Wan X, Vega-Warner V, Esteve-Rudd J, Lovric S, Fang H, Hurd TW, Sadowski CE, Allen SJ, Otto EA, Korkmaz E, Washburn J, Levy S, Williams DS, Bakkaloglu SA, Zolotnitskaya A, Ozaltin F, Zhou W, Hildebrandt F . Mutations in EMP2 cause childhood-onset nephrotic syndrome . American Journal of Human Genetics . 94 . 6 . 884–890 . June 2014 . 24814193 . 4121470 . 10.1016/j.ajhg.2014.04.010 .