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EMP2

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EMP2
Identifiers
AliasesEMP2, NPHS10, XMP, epithelial membrane protein 2
External IDsOMIM: 602334; MGI: 1098726; HomoloGene: 1089; GeneCards: EMP2; OMA:EMP2 - orthologs
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

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Mutations in EMP2 cause childhood-onset nephrotic syndrome.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000213853Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022505Ensembl, 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, et al. (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, et al. (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 HY, Ashraf S, Wan X, Vega-Warner V, Esteve-Rudd J, Lovric S, et al. (June 2014). "Mutations in EMP2 cause childhood-onset nephrotic syndrome". American Journal of Human Genetics. 94 (6): 884–890. doi:10.1016/j.ajhg.2014.04.010. PMC 4121470. PMID 24814193.

Further reading

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