Symbol
| DLG2
| contributors: mct - updated : 10-03-2022
|
HGNC name
| discs, large homolog 2, chapsyn-110 (Drosophila)
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HGNC id
| 2901
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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constitutional
| germinal mutation
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missense variant (F900V) in DLG2 (which encodes DLG2) that cosegregated with the delayed puberty | constitutional
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| deletion
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partial deletion of the DLG2 gene in patients with global developmental delay and intellectual disability | |
Susceptibility
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to schizophrenia Parkinson's disease (PD) |
Variant & Polymorphism
other
| copy number variants indicating loss of function in the DLG2 gene have been associated with markedly increased risk for schizophrenia, autism spectrum disorder, and intellectual disability |
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DLG2 rs3793947 AA genotype showed a significantly lower prevalence in female PD patients compared to the female controls |
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Candidate gene
Marker
Therapy target
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System | Type | Disorder | Pubmed |
neurology | neurodegenerative | alzheimer | |
overexpression of DLG2 might be a potential therapy for AD |
| | | |
| Dlg2+/- rats had reduced supra-linear dendritic integration of synaptic inputs resulting in impaired associative long-term potentiation |