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Gene Review

EFEMP2  -  EGF containing fibulin-like extracellular...

Homo sapiens

Synonyms: ARCL1B, EGF-containing fibulin-like extracellular matrix protein 2, FBLN4, FIBL-4, Fibulin-4, ...
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Disease relevance of EFEMP2


High impact information on EFEMP2


Biological context of EFEMP2

  • Using fluorescence in situ hybridisation analysis, the human fibulin-4 gene was localised to chromosome 11q13, this region being syntenic to portions of mouse chromosomes 7 and 19 [3].

Anatomical context of EFEMP2

  • In contrast to EFEMP1, however, EFEMP2 is not significantly overexpressed in senescent or quiescent fibroblasts, suggesting a diversity of function within this new EGF-like domain subfamily [4].
  • Since this polypeptide failed to incorporate into endoplasmic reticulum membrane preparations, it was concluded that it lacked a signal sequence and thus could represent an intracellular form of fibulin-4 [3].

Other interactions of EFEMP2

  • Given that mutations in EFEMP1 have been recently described in patients with Doyne honeycomb retinal dystrophy, EFEMP2 becomes a good candidate for such disorders [4].
  • We identified an apparently OA-specific autoantigen spot with a molecular mass of 52 kDa and a Isoelectric point of 4.1 as fibulin-4 by mass fingerprinting [1].

Analytical, diagnostic and therapeutic context of EFEMP2


  1. Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. Xiang, Y., Sekine, T., Nakamura, H., Imajoh-Ohmi, S., Fukuda, H., Yudoh, K., Masuko-Hongo, K., Nishioka, K., Kato, T. J. Immunol. (2006) [Pubmed]
  2. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Hucthagowder, V., Sausgruber, N., Kim, K.H., Angle, B., Marmorstein, L.Y., Urban, Z. Am. J. Hum. Genet. (2006) [Pubmed]
  3. Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues. Gallagher, W.M., Greene, L.M., Ryan, M.P., Sierra, V., Berger, A., Laurent-Puig, P., Conseiller, E. FEBS Lett. (2001) [Pubmed]
  4. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Katsanis, N., Venable, S., Smith, J.R., Lupski, J.R. Hum. Genet. (2000) [Pubmed]
  5. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. Giltay, R., Timpl, R., Kostka, G. Matrix Biol. (1999) [Pubmed]
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