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
Gene location (Human)
Chr.	Chromosome 8 (human)
End	1,708,476 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	14,897,680 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; Brodmann area 23; ; caudate nucleus; ; dorsolateral prefrontal cortex; ; Brodmann area 46; ; orbitofrontal cortex; ; parietal lobe; ; superior frontal gyrus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GO:0001948 protein binding ; protein domain specific binding ;
Cellular component	cell junction ; postsynaptic membrane ; membrane ; GO:0097483, GO:0097481 postsynaptic density ; neurofilament ; plasma membrane ; synapse ;
Biological process	signaling ; neuron-neuron synaptic transmission ;
	Sources:Amigo / QuickGO
Orthologs
	9228
	244310
ENSG00000274161 ; ENSG00000282152 ; ENSG00000282318 ; ENSG00000198010 ; ENSG00000282103 ;
	n/a
	ENSMUSG00000047495
	Q9P1A6
	Q8BJ42
	NM_001277161 ; NM_001346810 ; NM_004745
	NM_001145965 ; NM_172910
	NP_001333739
	NP_001139437 ; NP_766498
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 09, 2022

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]

Related Research Articles

The postsynaptic density (PSD) is a protein dense specialization attached to the postsynaptic membrane. PSDs were originally identified by electron microscopy as an electron-dense region at the membrane of a postsynaptic neuron. The PSD is in close apposition to the presynaptic active zone and ensures that receptors are in close proximity to presynaptic neurotransmitter release sites. PSDs vary in size and composition among brain regions, and have been studied in great detail at glutamatergic synapses. Hundreds of proteins have been identified in the postsynaptic density, including glutamate receptors, scaffold proteins, and many signaling molecules.

PSD-95 also known as SAP-90 is a protein that in humans is encoded by the DLG4 gene.

Discs large homolog 1 (DLG1), also known as synapse-associated protein 97 or SAP97, is a scaffold protein that in humans is encoded by the SAP97 gene.

Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene. This gene is also known by several other names: CMG 2, calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.

Disks large homolog 3 (DLG3) also known as neuroendocrine-DLG or synapse-associated protein 102 (SAP-102) is a protein that in humans is encoded by the DLG3 gene. DLG3 is a member of the membrane-associated guanylate kinase (MAGUK) superfamily of proteins.

Disks large homolog 2 (DLG2) also known as channel-associated protein of synapse-110 (chapsyn-110) or postsynaptic density protein 93 (PSD-93) is a protein that in humans is encoded by the DLG2 gene.

Glutamate [NMDA] receptor subunit epsilon-1 is a protein that in humans is encoded by the GRIN2A gene. The canonical GluN2A subunit isoform encompasses 1464 amino acids. Alternative splicing can generate a primate-specific GluN2A-short isoform.

Potassium voltage-gated channel subfamily A member 4 also known as K_v1.4 is a protein that in humans is encoded by the KCNA4 gene. It contributes to the cardiac transient outward potassium current (I_to1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

Cytoplasmic tyrosine-protein kinase BMX is an enzyme that in humans is encoded by the BMX gene.

Golgi-associated PDZ and coiled-coil motif-containing protein is a protein that in humans is encoded by the GOPC gene.

SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.

Disks large-associated protein 1 (DAP-1), also known as guanylate kinase-associated protein (GKAP), is a protein that in humans is encoded by the DLGAP1 gene. DAP-1 is known to be highly enriched in synaptosomal preparations of the brain, and present in the post-synaptic density.

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 also known as membrane-associated guanylate kinase inverted 2 (MAGI-2) and atrophin-1-interacting protein 1 (AIP-1) is an enzyme that in humans is encoded by the MAGI2 gene.

Disks large-associated protein 4 (DAP-4) also known as SAP90/PSD-95-associated protein 4 (SAPAP-4) is a protein that in humans is encoded by the DLGAP4 gene.

Lin-7 homolog B is a protein that in humans is encoded by the LIN7B gene.

Leucine rich repeat containing 7 also known as LRRC7, Densin-180, or LAP1 is a protein which in humans is encoded by the LRRC7 gene.

Cysteine-rich PDZ-binding protein is a protein that in humans is encoded by the CRIPT gene.

Connector enhancer of kinase suppressor of ras 2, also known as CNK homolog protein 2 (CNK2) or maguin, is an enzyme that in humans is encoded by the CNKSR2 gene.

Brain-enriched guanylate kinase-associated protein is an enzyme that in humans is encoded by the BEGAIN gene.

NADPH-dependent diflavin oxidoreductase 1 is an enzyme that in humans is encoded by the NDOR1 gene.

References

1 2 3 ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 GRCh38: Ensembl release 89: ENSG00000274161, ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047495 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: DLGAP2 discs, large (Drosophila) homolog-associated protein 2".
↑ 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.
↑ 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 GRCh38: Ensembl release 89: ENSG00000274161, ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid9286858-5] 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.

[pmid10854099-6] 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.

[entrez-7] 1 2 "Entrez Gene: DLGAP2 discs, large (Drosophila) homolog-associated protein 2".

[pmid9115257-8] 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.

[pmid20531469-9] 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. doi:10.1038/nature09146. PMC 3021798 . PMID 20531469.

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