Discs, Large Homolog 3 (DLG3)

MRX; XLMR; MRX90; NE-Dlg; NEDLG; SAP102; Neuroendocrine-Dlg; Synapse-associated protein 102

SPN	P985
HGNC	2902
MGI	1888986
PubMed	24381070
RGD	68423
UniProt	Q92796
Wiki	DLG3

DLG3 is a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described.

The predicted 817-amino acid protein contains the 3 DHR segments, central SH3 motif, and C-terminal guanylate kinase domain characteristic of MAGUK proteins. NEDLG shares 75% and 60% protein sequence identity with DLG1 and Drosophila dlg, respectively. NEDLG is highly expressed in neuronal and endocrine tissues.

Reference

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"Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation."
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Submitted (MAR-2004) to the PDB data bank

"The crystal structure of the second PDZ domain of human DLG3."
Submitted (DEC-2005) to the PDB data bank

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Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]