The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

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, ...
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

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

References

  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]
 
WikiGenes - Universities