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DLGAP2

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{{Short description|Protein-coding gene in the species Homo sapiens}}

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Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2 gene.{{cite journal | vauthors = Satoh K, Yanai H, Senda T, Kohu K, Nakamura T, Okumura N, Matsumine A, Kobayashi S, Toyoshima K, Akiyama T | title = DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95 | journal = Genes Cells | volume = 2 | issue = 6 | pages = 415–24 |date=Oct 1997 | pmid = 9286858 | doi =10.1046/j.1365-2443.1997.1310329.x | s2cid = 8934092 | doi-access = free }}{{cite journal | vauthors = Ranta S, Zhang Y, Ross B, Takkunen E, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE | title = Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation | journal = Eur J Hum Genet | volume = 8 | issue = 5 | pages = 381–4 |date=Sep 2000 | pmid = 10854099 | doi = 10.1038/sj.ejhg.5200440 | doi-access = free }}{{cite web | title = Entrez Gene: DLGAP2 discs, large (Drosophila) homolog-associated protein 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9228}}

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.{{cite journal | vauthors = Takeuchi M, Hata Y, Hirao K, Toyoda A, Irie M, Takai Y | title = SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density | journal = J. Biol. Chem. | volume = 272 | issue = 18 | pages = 11943–51 | year = 1997 | pmid = 9115257 | doi = 10.1074/jbc.272.18.11943 | doi-access = free }}

Clinical significance

As with many other synaptic genes, including its binding partner Shank2, DLGAP2 has been shown to be associated with Autism.{{cite journal| vauthors=Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R| title=Functional impact of global rare copy number variation in autism spectrum disorders. | journal=Nature | year= 2010 | volume= 466 | issue= 7304 | pages= 368–72 | pmid=20531469 | doi=10.1038/nature09146 | pmc=3021798 | bibcode=2010Natur.466..368P |display-authors=etal| url=http://www.hal.inserm.fr/inserm-00521387/document}}

References

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Further reading

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  • {{cite journal | vauthors=Takeuchi M, Hata Y, Hirao K |title=SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density |journal=J. Biol. Chem. |volume=272 |issue= 18 |pages= 11943–51 |year= 1997 |pmid= 9115257 |doi=10.1074/jbc.272.18.11943 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Naisbitt S, Kim E, Weinberg RJ |title=Characterization of guanylate kinase-associated protein, a postsynaptic density protein at excitatory synapses that interacts directly with postsynaptic density-95/synapse-associated protein 90 |journal=J. Neurosci. |volume=17 |issue= 15 |pages= 5687–96 |year= 1997 |pmid= 9221768 |doi= 10.1523/JNEUROSCI.17-15-05687.1997|pmc=6573205 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Ranta S, Lehesjoki AE, de Fatima Bonaldo M |title=High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p |journal=Genome Res. |volume=7 |issue= 9 |pages= 887–96 |year= 1997 |pmid= 9314494 |doi= 10.1101/gr.7.9.887 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Hirao K, Hata Y, Ide N |title=A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins |journal=J. Biol. Chem. |volume=273 |issue= 33 |pages= 21105–10 |year= 1998 |pmid= 9694864 |doi=10.1074/jbc.273.33.21105 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Kawabe H, Hata Y, Takeuchi M |title=nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP) |journal=J. Biol. Chem. |volume=274 |issue= 43 |pages= 30914–8 |year= 1999 |pmid= 10521485 |doi=10.1074/jbc.274.43.30914 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Hirao K, Hata Y, Deguchi M |title=Association of synapse-associated protein 90/ postsynaptic density-95-associated protein (SAPAP) with neurofilaments |journal=Genes Cells |volume=5 |issue= 3 |pages= 203–10 |year= 2000 |pmid= 10759891 |doi=10.1046/j.1365-2443.2000.00318.x |s2cid=2712385 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Wang P, Zhang Q, Tochio H |title=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 |journal=Eur. J. Biochem. |volume=267 |issue= 11 |pages= 3116–22 |year= 2000 |pmid= 10824095 |doi=10.1046/j.1432-1327.2000.01318.x |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Bolliger MF, Frei K, Winterhalter KH, Gloor SM |title=Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression |journal=Biochem. J. |volume=356 |issue= Pt 2 |pages= 581–8 |year= 2001 |pmid= 11368788 |doi=10.1042/0264-6021:3560581 | pmc=1221872 }}
  • {{cite journal | vauthors=Hu LA, Chen W, Premont RT |title=G protein-coupled receptor kinase 5 regulates beta 1-adrenergic receptor association with PSD-95 |journal=J. Biol. Chem. |volume=277 |issue= 2 |pages= 1607–13 |year= 2002 |pmid= 11700307 |doi= 10.1074/jbc.M107297200 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Ohtakara K, Nishizawa M, Izawa I |title=Densin-180, a synaptic protein, links to PSD-95 through its direct interaction with MAGUIN-1 |journal=Genes Cells |volume=7 |issue= 11 |pages= 1149–60 |year= 2003 |pmid= 12390249 |doi=10.1046/j.1365-2443.2002.00589.x |s2cid=17177670 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Verhoeven K, De Jonghe P, Van de Putte T |title=Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10 |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 926–32 |year= 2003 |pmid= 14508709 |doi= 10.1086/378159 | pmc=1180612 |display-authors=etal}}
  • {{cite journal | vauthors=Ying Z, Bingaman W, Najm IM |title=Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia |journal=Epilepsia |volume=45 |issue= 4 |pages= 314–21 |year= 2004 |pmid= 15030493 |doi= 10.1111/j.0013-9580.2004.37703.x |s2cid=46018257 }}

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