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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DLG2
discs large MAGUK scaffold protein 2
Chromosome 11 · 11q14.1
NCBI Gene: 1740Ensembl: ENSG00000150672.19HGNC: HGNC:2901UniProt: A0A3B3ISW2
107PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinase bindingcellular response to potassium ionprotein kinase bindingalcohol drinkingmyopiamultiple sclerosisplacental retention
✦AI Summary

DLG2 encodes a membrane-associated guanylate kinase (MAGUK) scaffold protein that serves critical roles in synaptic function and genome stability. As a postsynaptic density component, DLG2 regulates synaptic plasticity and is essential for normal neurodevelopment 1. The protein functions as a tumor suppressor, particularly in neuroblastoma, where it maintains genome integrity by impairing DNA double-strand break repair through NHEJ pathways and promoting p53-mediated apoptosis in response to genotoxic stress 2. DLG2 haploinsufficiency is strongly associated with neurodevelopmental psychiatric disorders including autism spectrum disorder, schizophrenia, and bipolar disorder 31. Intragenic deletions of DLG2, particularly in the 5' region around exon 8, cause developmental delays, congenital anomalies, and dysmorphism 3. In neuroblastoma, low DLG2 expression forces cell cycle progression and predicts poor patient survival, linking 11q-deleted and MYCN-amplified tumors 4. The gene also shows associations with Parkinson's disease risk in Chinese populations 5. DLG2 knockout disrupts transcriptional programs essential for cortical neurogenesis, affecting neuronal differentiation, migration, and maturation 6, highlighting its fundamental role in brain development and neuropsychiatric disease susceptibility.

Sources cited
1
DLG2 is a MAGUK scaffold protein component of postsynaptic density regulating synaptic plasticity and associated with neurodevelopmental psychiatric disorders
PMID: 35118804
2
DLG2 functions as tumor suppressor maintaining genome integrity through DNA repair regulation and p53-mediated apoptosis
PMID: 35217496
3
DLG2 haploinsufficiency causes neurodevelopmental disorders, with intragenic deletions concentrated in 5' region around exon 8
PMID: 37860969
4
Low DLG2 expression forces cell cycle progression and predicts poor neuroblastoma patient survival
PMID: 32312269
5
DLG2 SNPs are associated with Parkinson's disease risk in Chinese populations
PMID: 32652860
6
DLG2 knockout disrupts transcriptional programs essential for cortical neurogenesis and neuronal differentiation
PMID: 35031607
7
DLG2 promoter deletions are implicated in autism spectrum disorder risk
PMID: 31398340
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.40Moderate
myopiaOpen Targets
0.35Weak
multiple sclerosisOpen Targets
0.35Weak
placental retentionOpen Targets
0.34Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.34Weak
cardiac arrhythmiaOpen Targets
0.33Weak
influenza A (H1N1)Open Targets
0.33Weak
refractive errorOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
smoking initiationOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.32Weak
poisoningOpen Targets
0.31Weak
coronary artery diseaseOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.31Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.28Weak
exostosisOpen Targets
0.28Weak
multinodular goiterOpen Targets
0.28Weak
response to xenobiotic stimulusOpen Targets
0.28Weak
Pathogenic Variants2
NC_000011.10:g.(?_84809995)_(84986152_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
NC_000011.10:g.(?_84877230)_(84963429_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
View on ClinVar ↗
Related Genes
NLGN2Protein interaction100%NLGN1Protein interaction100%NLGN3Protein interaction100%NLGN4XProtein interaction100%GRIN1Protein interaction100%GRIN2AProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
18%
Heart
15%
Liver
7%
Bone Marrow
3%
Lung
3%
Gene Interaction Network
Click a node to explore
DLG2NLGN2NLGN1NLGN3NLGN4XGRIN1GRIN2A
PROTEIN STRUCTURE
Preparing viewer…
PDB2HE2 · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.25–0.44]
RankingsWhere DLG2 stands among ~20K protein-coding genes
  • #4,431of 20,598
    Most Researched107 · top quartile
  • #4,306of 5,498
    Most Pathogenic Variants2
  • #2,447of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedDLG2
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
PMID: 31398340
Cell · 2019
1.00
2
Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism.
PMID: 25581428
Nat Genet · 2015
0.90
3
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.
PMID: 37860969
Genet Med · 2024
0.80
4
Low DLG2 gene expression, a link between 11q-deleted and MYCN-amplified neuroblastoma, causes forced cell cycle progression, and predicts poor patient survival.
PMID: 32312269
Cell Commun Signal · 2020
0.70
5
SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
PMID: 32652860
J Cell Mol Med · 2020
0.60