DLG4 Chromosome 17
Discs large MAGUK scaffold protein 4
Upload your DNA to see your personal genotypes for variants in DLG4.
What This Gene Does
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing"
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000132535
Associated Conditions (7)
Inborn genetic diseases
Intellectual developmental disorder 62
Marfanoid habitus and intellectual disability
Neurodevelopmental delay
Intellectual disability
DLG4-related disorder
Cerebral visual impairment and intellectual disability
Key Variants
RS1355166210
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2142830394
Conflicting classifications of pathogenicity
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2507921984
Conflicting classifications of pathogenicity
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS769940216
Conflicting classifications of pathogenicity
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS1597444614
Likely pathogenic
Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62, Marfanoid habitus and intellectual disability
Health Risk
RS2070315709
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2142825745
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2142828286
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2507910150
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2507922013
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2507926253
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
RS2507942569
Likely pathogenic
Intellectual developmental disorder 62, Intellectual developmental disorder 62
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2507907830 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507919052 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507926129 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507929748 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507940250 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507940839 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2507942610 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507946000 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507946061 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507946309 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Inborn genetic diseases, Intellectual developmental disorder 62 |
| RS2507946358 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2507947636 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2508028388 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2508038550 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2508083151 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS767384318 | Health Risk | Pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS778104648 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder 62, Inborn genetic diseases |
| RS1182894684 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, DLG4-related disorder, Intellectual developmental disorder 62 |
| RS1227093654 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS1451196379 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS1567528092 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS1597442444 | Health Risk | Pathogenic/Likely pathogenic | Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62, Marfanoid habitus and intellectual disability |
| RS1597453595 | Health Risk | Pathogenic/Likely pathogenic | Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62, Marfanoid habitus and intellectual disability |
| RS2069660959 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142821543 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142821651 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142825211 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142825829 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142828228 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142844164 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142881946 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142883774 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142884288 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142884433 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS2142886707 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS542036630 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 62, Intellectual developmental disorder 62 |
| RS869312859 | Health Risk | Pathogenic/Likely pathogenic | Cerebral visual impairment and intellectual disability, Intellectual developmental disorder 62, Cerebral visual impairment and intellectual disability |