DLGAP2

Disks large-associated protein 2 is a protein that in humans is encoded by the DLGAP2 gene.^[5][6][7]

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
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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]