EMP2

EMP2
Identifikatori
AliasiEMP2
Vanjski ID-jeviOMIM: 602334 MGI: 1098726 HomoloGene: 1089 GeneCards: EMP2
Lokacija gena (čovjek)
Hromosom 16 (čovjek)
Hrom.Hromosom 16 (čovjek)[1]
Hromosom 16 (čovjek)
Genomska lokacija za EMP2
Genomska lokacija za EMP2
Bend16p13.13Početak10,528,422 bp[1]
Kraj10,580,632 bp[1]
Lokacija gena (miš)
Hromosom 16 (miš)
Hrom.Hromosom 16 (miš)[2]
Hromosom 16 (miš)
Genomska lokacija za EMP2
Genomska lokacija za EMP2
Bend16 A1|16 5.54 cMPočetak10,099,613 bp[2]
Kraj10,131,832 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija protein kinase binding
kinase binding
GO:0001948, GO:0016582 vezivanje za proteine
integrin binding
Ćelijska komponenta Kaveole
citoplazma
Golđijev aparat
Golđijeva membrana
jedro
apical part of cell
apical plasma membrane
membrana
cell surface
Lipidni splav
ćelijska membrana
GO:0016023 citoplazmatska vezikula
integral component of membrane
citosol
Biološki proces regulation of kinase activity
Ćelijska smrt
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
Ćelijska migracija
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
Ćelijska adhezija
blood vessel endothelial cell migration
Ćelijska proliferacija
embryo implantation
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001424

NM_007929

RefSeq (bjelančevina)

NP_001415

NP_031955

Lokacija (UCSC)Chr 16: 10.53 – 10.58 MbChr 16: 10.1 – 10.13 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Epitelni membranski protein 2 je protein koji je kod ljudi kodiran genom EMP2.[5][6][7][8] Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 167 aminokiselina, a molekulska težina 19.199 Da.[9]

Simboli
1020304050
MLVLLAFIIAFHITSAALLFIATVDNAWWVGDEFFADVWRICTNNTNCTV
INDSFQEYSTLQAVQATMILSTILCCIAFFIFVLQLFRLKQGERFVLTSI
IQLMSCLCVMIAASIYTDRREDIHDKNAKFYPVTREGSYGYSYILAWVAF
ACTFISGMMYLILRKRK

Klinički značaj

Mutacije u EMP2 uzrokuju Nefrotski sindrom s početkom u djetinjstvu.[10]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000213853 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022505 - Ensembl, maj 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. ^ "UniProt, P54851". Pristupljeno 5. 7. 2021.
  10. ^ 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.

Dopunska literatura

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