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.[3]
References
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↑Mates L, Korpos E, Deak F, Liu Z, Beier DR, Aszodi A, Kiss I (Mar 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. doi:10.1016/S0945-053X(01)00194-9. PMID11852232.
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. doi:10.1159/000056797. PMID11124542.
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. PMID11896063.
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. PMID14702039.
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. PMID16303743.
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. PMID16401863.
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. PMID16713569.