DLGAP2

DLGAP2
Identifiers
Aliases	DLGAP2, DAP2, SAPAP2, discs large homolog associated protein 2, DLG associated protein 2, C8orf68, ERICH1-AS1
External IDs	OMIM: 605438; MGI: 2443181; GeneCards: DLGAP2
Gene location (Human) Chr. Chromosome 8 (human) Band 8p23.3 Start 737,628 bp End 1,708,476 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 A1.1 Start 14,145,865 bp End 14,897,680 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis gonad superior frontal gyrus testicle primary visual cortex corpus callosum prefrontal cortex dorsolateral prefrontal cortex Brodmann area 9 Top expressed in lumbar subsegment of spinal cord superior frontal gyrus primary visual cortex dorsal striatum nucleus accumbens dentate gyrus of hippocampal formation granule cell zygote primary motor cortex tail of embryo prefrontal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein domain specific binding Cellular component cell junction postsynaptic membrane membrane postsynaptic density neurofilament plasma membrane synapse Biological process signaling neuron-neuron synaptic transmission Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 9228 244310 Ensembl ENSG00000274161 ENSG00000282152 ENSG00000282318 ENSG00000198010 ENSG00000282103 n/a ENSMUSG00000047495 UniProt Q9P1A6 Q8BJ42 RefSeq (mRNA) NM_001277161 NM_001346810 NM_004745 NM_001145965 NM_172910 RefSeq (protein) NP_001333739 NP_001139437 NP_766498 Location (UCSC) Chr 8: 0.74 – 1.71 Mb Chr 8: 14.15 – 14.9 Mb PubMed search
Wikidata
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Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2 gene.

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-Methyl-d-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.

Further reading

• Naisbitt S, Kim E, Weinberg RJ, Rao A, Yang FC, Craig AM, et al. (August 1997). "Characterization of guanylate kinase-associated protein, a postsynaptic density protein at excitatory synapses that interacts directly with postsynaptic density-95/synapse-associated protein 90". The Journal of Neuroscience. 17 (15): 5687–5696. doi:10.1523/JNEUROSCI.17-15-05687.1997. PMC 6573205. PMID 9221768.
• Ranta S, Lehesjoki AE, de Fatima Bonaldo M, Knowles JA, Hirvasniemi A, Ross B, et al. (September 1997). "High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p". Genome Research. 7 (9): 887–896. doi:10.1101/gr.7.9.887. PMID 9314494.
• Hirao K, Hata Y, Ide N, Takeuchi M, Irie M, Yao I, et al. (August 1998). "A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins". The Journal of Biological Chemistry. 273 (33): 21105–21110. doi:10.1074/jbc.273.33.21105. PMID 9694864.
• Kawabe H, Hata Y, Takeuchi M, Ide N, Mizoguchi A, Takai Y (October 1999). "nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP)". The Journal of Biological Chemistry. 274 (43): 30914–30918. doi:10.1074/jbc.274.43.30914. PMID 10521485.
• Hirao K, Hata Y, Deguchi M, Yao I, Ogura M, Rokukawa C, et al. (March 2000). "Association of synapse-associated protein 90/ postsynaptic density-95-associated protein (SAPAP) with neurofilaments". Genes to Cells. 5 (3): 203–210. doi:10.1046/j.1365-2443.2000.00318.x. PMID 10759891. S2CID 2712385.
• Wang P, Zhang Q, Tochio H, Fan JS, Zhang M (June 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". European Journal of Biochemistry. 267 (11): 3116–3122. doi:10.1046/j.1432-1327.2000.01318.x. PMID 10824095.
• Bolliger MF, Frei K, Winterhalter KH, Gloor SM (2001). "Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression". The Biochemical Journal. 356 (Pt 2): 581–588. doi:10.1042/0264-6021:3560581. PMC 1221872. PMID 11368788.
• Hu LA, Chen W, Premont RT, Cong M, Lefkowitz RJ (January 2002). "G protein-coupled receptor kinase 5 regulates beta 1-adrenergic receptor association with PSD-95". The Journal of Biological Chemistry. 277 (2): 1607–1613. doi:10.1074/jbc.M107297200. PMID 11700307.
• Ohtakara K, Nishizawa M, Izawa I, Hata Y, Matsushima S, Taki W, et al. (November 2002). "Densin-180, a synaptic protein, links to PSD-95 through its direct interaction with MAGUIN-1". Genes to Cells. 7 (11): 1149–1160. doi:10.1046/j.1365-2443.2002.00589.x. PMID 12390249. S2CID 17177670.
• Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, et al. (October 2003). "Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10". American Journal of Human Genetics. 73 (4): 926–932. doi:10.1086/378159. PMC 1180612. PMID 14508709.
• 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): 314–321. doi:10.1111/j.0013-9580.2004.37703.x. PMID 15030493. S2CID 46018257.