EMP2

From WikiProjectMed
Jump to navigation Jump to search
EMP2
Identifiers
AliasesEMP2, NPHS10, XMP, epithelial membrane protein 2
External IDsOMIM: 602334 MGI: 1098726 HomoloGene: 1089 GeneCards: EMP2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001424

NM_007929

RefSeq (protein)

NP_001415

NP_031955

Location (UCSC)Chr 16: 10.53 – 10.58 MbChr 16: 10.1 – 10.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000213853 - Ensembl, May 2017
  2. ^ a b c 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