EMP2

EMP2
Identifikatori
Aliasi	EMP2
Vanjski ID-jevi	OMIM: 602334 MGI: 1098726 HomoloGene: 1089 GeneCards: EMP2
Lokacija gena (čovjek)
Hrom.	Hromosom 16 (čovjek)
Kraj	10,580,632 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	10,131,832 bp
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
	2013
	13731
	ENSG00000213853
	ENSMUSG00000022505
	P54851
	O88662
	NM_001424
	NM_007929
	NP_001415
	NP_031955
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/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

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MLVLLAFIIA	FHITSAALLF	IATVDNAWWV	GDEFFADVWR	ICTNNTNCTV
INDSFQEYST	LQAVQATMIL	STILCCIAFF	IFVLQLFRLK	QGERFVLTSI
IQLMSCLCVM	IAASIYTDRR	EDIHDKNAKF	YPVTREGSYG	YSYILAWVAF
ACTFISGMMY	LILRKRK

Klinički značaj

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

Reference

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

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. 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. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000213853 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 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.

[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".

[UniProt-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.

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