DLG2

Chr 11

discs large MAGUK scaffold protein 2

Also known as: PPP1R58, PSD-93, PSD93, chapsyn-110

NCBI Gene: 1740ENSG00000150672UniProt: Q15700OMIM: 603583

The encoded protein is a postsynaptic scaffolding protein that regulates surface expression of NMDA receptors and clustering of receptors, ion channels, and signaling proteins at excitatory synapses. Mutations cause intellectual disability with onset in infancy or early childhood, and the gene shows high constraint against loss-of-function variants (LOEUF 0.338). Inheritance follows an autosomal dominant pattern.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.34
Clinical Summary— DLG2
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.71) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
24 unique Pathogenic / Likely Pathogenic· 111 VUS of 180 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.708
Z-score 5.71
OE 0.21 (0.14–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.08Z-score
OE missense 0.75 (0.69–0.81)
400 obs / 535.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.21 (0.14–0.34)
0≤0.351.4
Missense OE0.75 (0.69–0.81)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 13 / 61.2Missense obs/exp: 400 / 535.2Syn Z: 0.76

ClinVar Variant Classifications

180 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic5
VUS111
Likely Benign16
Benign9
19
Pathogenic
5
Likely Pathogenic
111
VUS
16
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
5
0
5
VUS
4
74
33
0
111
Likely Benign
0
3
7
6
16
Benign
0
0
4
5
9
Total4776811160

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DLG2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.
Chen Y et al.·Genet Med
2024
DLG2 rs11607886 polymorphism associated with schizophrenia and precuneus functional changes.
Zhu H et al.·Schizophr Res
2025Functional
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder.
Kushima I et al.·Biol Psychiatry
2022
DLG2 variants in patients with pubertal disorders.
Jee YH et al.·Genet Med
2020Cohort
A mild impairment in reversal learning in a bowl-digging substrate deterministic task but not other cognitive tests in the Dlg2+/- rat model of genetic risk for psychiatric disorder.
Griesius S et al.·Genes Brain Behav
2023Functional
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients