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.