Gene: DLG3

Alternate names for this Gene: MRX|MRX90|NEDLG|PPP1R82|SAP102|XLMR

Gene Summary: This gene encodes 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 cognitive disability. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.1

Description of this Gene: discs large MAGUK scaffold protein 3

Type of Gene: protein-coding

rs1241142887 in DLG3 gene and Dysmorphic features PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

rs4844229 in DLG3 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1213060424 in DLG3 gene and Movement Disorders PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

rs1213060424 in DLG3 gene and Muscle hypotonia PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

rs4844229 in DLG3 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.