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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DLG4
discs large MAGUK scaffold protein 4
Chromosome 17 Β· 17p13.1
NCBI Gene: 1742Ensembl: ENSG00000132535.23HGNC: HGNC:2903UniProt: A0A3B3IS17
273PubMed Papers
21Diseases
0Drugs
100Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingkinase bindingpostsynaptic membranecortical cytoskeletonintellectual developmental disorder 62genetic disorderneurodegenerative diseaseIntellectual disability
✦AI Summary

DLG4 (discs large MAGUK scaffold protein 4) encodes postsynaptic density protein-95 (PSD-95), a critical postsynaptic scaffolding protein that organizes synaptic architecture and regulates excitatory synaptic function 1. DLG4 provides a molecular platform for clustering NMDA receptors, AMPA receptors, and other essential synaptic proteins at the postsynaptic membrane, thereby controlling synaptic plasticity and neuronal communication 2. The protein mediates phase separation of postsynaptic density complexes, enabling formation of concentrated protein-enriched compartments necessary for synaptic organization 2. DLG4 coordinates synaptic stability through interactions with kinases and palmitoyltransferases that regulate membrane localization of signaling molecules [UniProt summary]. Loss-of-function DLG4 variants cause DLG4-related synaptopathy, a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, autism spectrum disorder, and attention-deficit hyperactivity disorder 1. Approximately 50% of affected individuals develop epilepsy, with over 25% experiencing developmental epileptic encephalopathy with spike-wave activation during sleep 3. Most pathogenic variants (39 of 45 identified) are loss-of-function mutations occurring de novo 1, disrupting the precise synaptic protein assembly required for normal brain development and cognitive function. DLG4 dysfunction highlights the critical importance of postsynaptic scaffolding in preventing neurodevelopmental disease.

Sources cited
1
DLG4 variants cause DLG4-related synaptopathy with developmental delay, intellectual disability, autism spectrum disorder, and ADHD; most variants are loss-of-function mutations occurring de novo
PMID: 33597769
2
PSD-95 (DLG4 protein product) undergoes phase separation when bound to SynGAP, forming liquid-like droplets that constitute the postsynaptic density structure critical for synaptic plasticity
PMID: 27565345
3
DLG4-related synaptopathy presents with epilepsy in 50% of individuals, with over 25% experiencing developmental epileptic encephalopathy with spike-wave activation during sleep
PMID: 38135915
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
intellectual developmental disorder 62Open Targets
0.78Strong
genetic disorderOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
Intellectual disabilityOpen Targets
0.50Moderate
complex neurodevelopmental disorderOpen Targets
0.46Moderate
Neurodevelopmental delayOpen Targets
0.43Moderate
neuroinflammatory disorderOpen Targets
0.37Weak
Disproportionate tall statureOpen Targets
0.37Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.36Weak
autism spectrum disorderOpen Targets
0.34Weak
intellectual developmental disorder with paroxysmal dyskinesia or seizuresOpen Targets
0.34Weak
intellectual disability-epilepsy-extrapyramidal syndromeOpen Targets
0.34Weak
intellectual disability, autosomal dominant 24Open Targets
0.34Weak
Neurodevelopmental abnormalityOpen Targets
0.34Weak
Rare genetic intellectual disability with developmental anomalyOpen Targets
0.27Weak
very long chain acyl-CoA dehydrogenase deficiencyOpen Targets
0.17Weak
cardiovascular diseaseOpen Targets
0.16Weak
familial hypertrophic cardiomyopathyOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.10Weak
schizophreniaOpen Targets
0.10Weak
Intellectual developmental disorder, autosomal dominant 62UniProt
Pathogenic Variants100
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)Pathogenic
Intellectual developmental disorder 62|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 361
NM_001321075.3(DLG4):c.642G>A (p.Ala214=)Pathogenic
not provided|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2025β†’ Residue 214
NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)Pathogenic
Intellectual developmental disorder 62|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 313
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter)Pathogenic
not provided|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2024β†’ Residue 496
NM_001321075.3(DLG4):c.211-2A>GPathogenic
Intellectual developmental disorder 62|not provided
β˜…β˜…β˜†β˜†2024
NM_001321075.3(DLG4):c.1693+1G>APathogenic
Intellectual developmental disorder 62|not provided
β˜…β˜…β˜†β˜†2024
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter)Pathogenic
Inborn genetic diseases|Intellectual developmental disorder 62|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 516
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter)Pathogenic
Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 617
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln)Pathogenic
Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 586
NM_001321075.3(DLG4):c.1592-1G>APathogenic
Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)Pathogenic
Intellectual developmental disorder 62|not provided|DLG4-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 309
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter)Pathogenic
Intellectual developmental disorder 62|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 368
NM_001321075.3(DLG4):c.1543+2T>CLikely pathogenic
Marfanoid habitus and intellectual disability|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023
NM_001321075.3(DLG4):c.210+1G>TLikely pathogenic
not provided|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)Pathogenic
Cerebral visual impairment and intellectual disability|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 50
NM_001321075.3(DLG4):c.605del (p.Lys202fs)Pathogenic
not provided|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 202
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)Pathogenic
not provided|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 497
NM_001321075.3(DLG4):c.1714del (p.Glu572fs)Pathogenic
Marfanoid habitus and intellectual disability|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 572
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs)Pathogenic
Marfanoid habitus and intellectual disability|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 340
NM_001321075.3(DLG4):c.525dup (p.Gly176fs)Pathogenic
not provided|Intellectual developmental disorder 62
β˜…β˜…β˜†β˜†2023β†’ Residue 176
View on ClinVar β†—
Related Genes
NLGN4YProtein interaction100%NLGN4XProtein interaction100%LGI1Protein interaction100%PICK1Protein interaction100%DRD1Protein interaction100%GRIN3AProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
55%
Bone Marrow
27%
Heart
19%
Lung
18%
Liver
13%
Gene Interaction Network
Click a node to explore
DLG4NLGN4YNLGN4XLGI1PICK1DRD1GRIN3A
PROTEIN STRUCTURE
Preparing viewer…
PDB6QJL Β· 1.04 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.15Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.04–0.15]
RankingsWhere DLG4 stands among ~20K protein-coding genes
  • #1,340of 20,598
    Most Researched273 Β· top 10%
  • #772of 5,498
    Most Pathogenic Variants100 Β· top quartile
  • #213of 17,882
    Most Constrained (LOEUF)0.15 Β· top 5%
Genes detectedDLG4
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
DLG4-related synaptopathy: a new rare brain disorder.
PMID: 33597769
Genet Med Β· 2021
1.00
2
Endothelial TFEB signaling-mediated autophagic disturbance initiates microglial activation and cognitive dysfunction.
PMID: 36588318
Autophagy Β· 2023
0.90
3
Dendritic function of tau mediates amyloid-beta toxicity in Alzheimer's disease mouse models.
PMID: 20655099
Cell Β· 2010
0.88
4
Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses.
PMID: 22306606
Nat Neurosci Β· 2012
0.80
5
Activation of PPARA-mediated autophagy reduces Alzheimer disease-like pathology and cognitive decline in a murine model.
PMID: 30898012
Autophagy Β· 2020
0.70