DLG3 Chromosome X
Discs large MAGUK scaffold protein 3
Upload your DNA to see your personal genotypes for variants in DLG3.
What This Gene Does
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. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing"
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000082458
Associated Conditions (8)
Inborn genetic diseases
Intellectual disability
X-linked 90
Thyroid cancer
nonmedullary
1
DLG3-related disorder
See cases
Key Variants
RS144225009
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149595793
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Inborn genetic diseases
Health Risk
RS2519885015
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Thyroid cancer
Health Risk
RS374006597
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Intellectual disability
Health Risk
RS535820581
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748814438
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Intellectual disability
Health Risk
RS751846954
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Intellectual disability
Health Risk
RS753368389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759162614
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Intellectual disability
Health Risk
RS775293712
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 90, Inborn genetic diseases
Health Risk
RS778855350
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 90
Health Risk
RS797045525
Conflicting classifications of pathogenicity
Inborn genetic diseases, DLG3-related disorder, Inborn genetic diseases
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144225009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149595793 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Inborn genetic diseases |
| RS2519885015 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Thyroid cancer |
| RS374006597 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Intellectual disability |
| RS535820581 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748814438 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Intellectual disability |
| RS751846954 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Intellectual disability |
| RS753368389 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759162614 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Intellectual disability |
| RS775293712 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 90, Inborn genetic diseases |
| RS778855350 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 90 |
| RS797045525 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DLG3-related disorder, Inborn genetic diseases |
| RS1212006965 | Health Risk | Likely pathogenic | — |
| RS2086553104 | Health Risk | Likely pathogenic | — |
| RS2147770394 | Health Risk | Likely pathogenic | — |
| RS2147771642 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS2147842078 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS2147842365 | Health Risk | Likely pathogenic | See cases, Thyroid cancer, nonmedullary |
| RS2519725056 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS2519725228 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519868619 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS1213060424 | Health Risk | Pathogenic | Inborn genetic diseases, DLG3-related disorder, Inborn genetic diseases |
| RS1241142887 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1373474125 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS1555960066 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS1602880906 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2087377266 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2147892965 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS2519725017 | Health Risk | Pathogenic | — |
| RS2519730848 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS398122846 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS398122847 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS587777359 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS587777360 | Health Risk | Pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS727503900 | Health Risk | Pathogenic | — |
| RS1602857000 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 90, Intellectual disability |
| RS1602991098 | Health Risk | Pathogenic/Likely pathogenic | — |