DLGAP2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesDLGAP2, DAP2, SAPAP2, discs large homolog associated protein 2, DLG associated protein 2, C8orf68, ERICH1-AS1
End1,708,476 bp[1]
Quick facts Identifiers, Aliases ...
DLGAP2
Identifiers
AliasesDLGAP2, DAP2, SAPAP2, discs large homolog associated protein 2, DLG associated protein 2, C8orf68, ERICH1-AS1
External IDsOMIM: 605438; MGI: 2443181; HomoloGene: 3484; GeneCards: DLGAP2; OMA:DLGAP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 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][10]

References

Further reading

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