Species Human Entrez 9228 | Human Mouse Ensembl n/a | |
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Aliases DLGAP2, DAP2, SAPAP2, discs large homolog associated protein 2, DLG associated protein 2 External IDs MGI: 2443181 HomoloGene: 3484 GeneCards: DLGAP2 | ||
Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2 gene.
Contents
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.
Interactions
DLGAP2 has been shown to interact with DLG4, the canonical synapse marker protein, which in turn binds to N-methyld-aspartate (NMDA) receptors and Shaker-type K+ channels.
Clinical significance
As with many other synaptic genes, including its binding partner Shank2, DLGAP2 has been shown to be associated with Autism.