DLGAP2

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Discs, large (Drosophila) homolog-associated protein 2
Identifiers
Symbols DLGAP2 ; DAP2; SAPAP2
External IDs OMIM605438 MGI2443181 HomoloGene3484 GeneCards: DLGAP2 Gene
RNA expression pattern
PBB GE DLGAP2 216916 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9228 244310
Ensembl ENSG00000198010 ENSMUSG00000047495
UniProt Q9P1A6 Q8BJ42
RefSeq (mRNA) NM_001277161 NM_001145965
RefSeq (protein) NP_001264090 NP_001139437
Location (UCSC) Chr 8:
1.45 – 1.66 Mb
Chr 8:
14.1 – 14.85 Mb
PubMed search [1] [2]

Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2 gene.[1][2][3]

Function[edit]

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.[3]

Interactions[edit]

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.[4]

Clinical significance[edit]

As with many other synaptic genes, including its binding partner Shank2, DLGAP2 has been shown to be associated with Autism.[5]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: DLGAP2 discs, large (Drosophila) homolog-associated protein 2". 
  4. ^ 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. 
  5. ^ 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. doi:10.1038/nature09146. PMC 3021798. PMID 20531469. 

Further reading[edit]