EFEMP2 explained

EGF-containing fibulin-like extracellular matrix protein 2 is a protein that in humans is encoded by the EFEMP2 gene.^{[1] [2] [3]}

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. EFEMP2 (also known as fibulin-4) contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is widely expressed in a range of adult and fetal tissues.^[3]

Interactions

EFEMP2 has been shown to interact with P53.^[4]

Further reading

• Gallagher WM, Argentini M, Sierra V . MBP1: a novel mutant p53-specific protein partner with oncogenic properties. . Oncogene . 18 . 24 . 3608–16 . 1999 . 10380882 . 10.1038/sj.onc.1202937 . etal. free .
• Gallagher WM, Greene LM, Ryan MP . Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues. . FEBS Lett. . 489 . 1 . 59–66 . 2001 . 11231014 . 10.1016/S0014-5793(00)02389-9 . 24614042 . etal. free . 2001FEBSL.489...59G .
• Wistow G, Bernstein SL, Wyatt MK . Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. . Mol. Vis. . 8 . 196–204 . 2002 . 12107411 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . etal. 2002PNAS...9916899M . free .
• Clark HF, Gurney AL, Abaya E . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . etal. 2005Natur.437.1173R . 4427026 .
• Otsuki T, Ota T, Nishikawa T . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . etal. free .
• Xiang Y, Sekine T, Nakamura H . Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. . J. Immunol. . 176 . 5 . 3196–204 . 2006 . 16493080 . 10.4049/jimmunol.176.5.3196. etal. free .
• Taylor TD, Noguchi H, Totoki Y . Human chromosome 11 DNA sequence and analysis including novel gene identification. . Nature . 440 . 7083 . 497–500 . 2006 . 16554811 . 10.1038/nature04632 . etal. 2006Natur.440..497T . free .
• Hucthagowder V, Sausgruber N, Kim KH . Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. . Am. J. Hum. Genet. . 78 . 6 . 1075–80 . 2006 . 16685658 . 10.1086/504304 . 1474103 . etal.
• El-Hallous E, Sasaki T, Hubmacher D . Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. . J. Biol. Chem. . 282 . 12 . 8935–46 . 2007 . 17255108 . 10.1074/jbc.M608204200 . etal. free .

External links

• GeneReview/NCBI/NIH/UW entry on EFEMP2-Related Cutis Laxa

Notes and References

1. Giltay R, Timpl R, Kostka G . Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4 . Matrix Biol . 18 . 5 . 469–80 . Feb 2000 . 10601734 . 10.1016/S0945-053X(99)00038-4 .
2. Katsanis N, Venable S, Smith JR, Lupski JR . Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 . Hum Genet . 106 . 1 . 66–72 . Sep 2000 . 10982184 . 10.1007/s004390051011 . 2024-03-29 .
3. Web site: Entrez Gene: EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2.
4. Gallagher . W M . Argentini M . Sierra V . Bracco L . Debussche L . Conseiller E . Jun 1999 . MBP1: a novel mutant p53-specific protein partner with oncogenic properties . Oncogene . 18 . 24 . 3608–16 . 0950-9232. 10380882 . 10.1038/sj.onc.1202937 . free .