Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2gene.[5][6][7]
Function
The product of this gene is one of the membrane-associated guanylate kinases localized at postsynaptic density in neuronal cells. These kinases are a family of signaling molecules expressed at various submembrane domains and contain the PDZ, SH3 and the guanylate kinase domains. This protein may play a role in the molecular organization of synapses and in neuronal cell signaling. Alternatively spliced transcript variants encoding different isoforms have been identified, but their full-length nature is not known.[7]
Interactions
DLGAP2 has been shown to interact with DLG4, the canonical synapse marker protein, which in turn binds to N-Methyl-d-aspartate (NMDA) receptors and Shaker-type K+ channels.[8]
Clinical significance
As with many other synaptic genes, including its binding partner Shank2, DLGAP2 has been shown to be associated with Autism.[9]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Satoh K, Yanai H, Senda T, Kohu K, Nakamura T, Okumura N, Matsumine A, Kobayashi S, Toyoshima K, Akiyama T (Oct 1997). "DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95". Genes Cells. 2 (6): 415–24. doi:10.1046/j.1365-2443.1997.1310329.x. PMID9286858.
Hirao K, Hata Y, Deguchi M, et al. (2000). "Association of synapse-associated protein 90/ postsynaptic density-95-associated protein (SAPAP) with neurofilaments". Genes Cells. 5 (3): 203–10. doi:10.1046/j.1365-2443.2000.00318.x. PMID10759891.
Wang P, Zhang Q, Tochio H, et al. (2000). "Formation of a native-like beta-hairpin finger structure of a peptide from the extended PDZ domain of neuronal nitric oxide synthase in aqueous solution". Eur. J. Biochem. 267 (11): 3116–22. doi:10.1046/j.1432-1327.2000.01318.x. PMID10824095.
Ohtakara K, Nishizawa M, Izawa I, et al. (2003). "Densin-180, a synaptic protein, links to PSD-95 through its direct interaction with MAGUIN-1". Genes Cells. 7 (11): 1149–60. doi:10.1046/j.1365-2443.2002.00589.x. PMID12390249.
Ying Z, Bingaman W, Najm IM (2004). "Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia". Epilepsia. 45 (4): 314–21. doi:10.1111/j.0013-9580.2004.37703.x. PMID15030493.