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; HomoloGene: 3484; GeneCards: DLGAP2; OMA:DLGAP2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p23.3 Start 737,628 bp [1] End 1,708,476 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 A1.1 Start 14,145,865 bp [2] End 14,897,680 bp [2]
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 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2 gene. ^{[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]

References

1. ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 GRCh38: Ensembl release 89: ENSG00000274161, ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047495 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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 . PMID   9286858. S2CID   8934092.
6. Ranta S, Zhang Y, Ross B, Takkunen E, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Sep 2000). "Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation". Eur J Hum Genet. 8 (5): 381–4. doi: 10.1038/sj.ejhg.5200440 . PMID   10854099.
7. "Entrez Gene: DLGAP2 discs, large (Drosophila) homolog-associated protein 2".
8. Takeuchi M, Hata Y, Hirao K, Toyoda A, Irie M, Takai Y (1997). "SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density". J. Biol. Chem. 272 (18): 11943–51. doi: 10.1074/jbc.272.18.11943 . PMID   9115257.
9. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. (2010). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–72. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. PMC   3021798 . PMID   20531469.

Further reading

• Takeuchi M, Hata Y, Hirao K, et al. (1997). "SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density". J. Biol. Chem. 272 (18): 11943–51. doi: 10.1074/jbc.272.18.11943 . PMID   9115257.
• Naisbitt S, Kim E, Weinberg RJ, et al. (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". J. Neurosci. 17 (15): 5687–96. doi: 10.1523/JNEUROSCI.17-15-05687.1997 . PMC   6573205 . PMID   9221768.
• Ranta S, Lehesjoki AE, de Fatima Bonaldo M, et al. (1997). "High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p". Genome Res. 7 (9): 887–96. doi: 10.1101/gr.7.9.887 . PMID   9314494.
• Hirao K, Hata Y, Ide N, et al. (1998). "A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins". J. Biol. Chem. 273 (33): 21105–10. doi: 10.1074/jbc.273.33.21105 . PMID   9694864.
• Kawabe H, Hata Y, Takeuchi M, et al. (1999). "nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP)". J. Biol. Chem. 274 (43): 30914–8. doi: 10.1074/jbc.274.43.30914 . PMID   10521485.
• 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 . PMID   10759891. S2CID   2712385.
• 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 . 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". Biochem. J. 356 (Pt 2): 581–8. doi:10.1042/0264-6021:3560581. PMC   1221872 . PMID   11368788.
• Hu LA, Chen W, Premont RT, et al. (2002). "G protein-coupled receptor kinase 5 regulates beta 1-adrenergic receptor association with PSD-95". J. Biol. Chem. 277 (2): 1607–13. doi: 10.1074/jbc.M107297200 . PMID   11700307.
• 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 . PMID   12390249. S2CID   17177670.
• Verhoeven K, De Jonghe P, Van de Putte T, et al. (2003). "Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10". Am. J. Hum. Genet. 73 (4): 926–32. 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): 314–21. doi:10.1111/j.0013-9580.2004.37703.x. PMID   15030493. S2CID   46018257.