MATN2

From Wikipedia, the free encyclopedia


Matrilin 2
Identifiers
Symbol(s) MATN2;
External IDs OMIM: 602108 MGI109613 HomoloGene20538
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 4147 17181
Ensembl ENSG00000132561 ENSMUSG00000022324
Uniprot O00339 Q3TQ80
Refseq NM_002380 (mRNA)
NP_002371 (protein)
NM_016762 (mRNA)
NP_058042 (protein)
Location Chr 8: 98.95 - 99.12 Mb Chr 15: 34.25 - 34.38 Mb
Pubmed search [1] [2]

Matrilin 2, also known as MATN2, is a human gene.[1]

This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene.[1]

[edit] References

[edit] Further reading

  • Deák F, Piecha D, Bachrati C, et al. (1997). "Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily.". J. Biol. Chem. 272 (14): 9268–74. PMID 9083061. 
  • Muratoglu S, Krysan K, Balázs M, et al. (2001). "Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes.". Cytogenet. Cell Genet. 90 (3-4): 323–7. PMID 11124542. 
  • Mátés L, Korpos E, Déak F, et al. (2002). "Comparative analysis of the mouse and human genes (Matn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices.". Matrix Biol. 21 (2): 163–74. PMID 11852232. 
  • Frank S, Schulthess T, Landwehr R, et al. (2002). "Characterization of the matrilin coiled-coil domains reveals seven novel isoforms.". J. Biol. Chem. 277 (21): 19071–9. doi:10.1074/jbc.M202146200. PMID 11896063. 
  • Piecha D, Hartmann K, Kobbe B, et al. (2002). "Expression of matrilin-2 in human skin.". J. Invest. Dermatol. 119 (1): 38–43. doi:10.1046/j.1523-1747.2002.01789.x. PMID 12164922. 
  • Piecha D, Wiberg C, Mörgelin M, et al. (2002). "Matrilin-2 interacts with itself and with other extracellular matrix proteins.". Biochem. J. 367 (Pt 3): 715–21. doi:10.1042/BJ20021069. PMID 12180907. 
  • 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. PMID 12477932. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "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. doi:10.1101/gr.1293003. PMID 12975309. 
  • 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. PMID 15489334. 
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "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. doi:10.1093/dnares/12.2.117. PMID 16303743. 
  • Sharma MK, Watson MA, Lyman M, et al. (2006). "Matrilin-2 expression distinguishes clinically relevant subsets of pilocytic astrocytoma.". Neurology 66 (1): 127–30. doi:10.1212/01.wnl.0000188667.66646.1c. PMID 16401863. 
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.