DLGAP2
Chr 8DLG associated protein 2
Also known as: C8orf68, DAP2, ERICH1-AS1, SAPAP2
The protein is a membrane-associated protein that organizes synapses and facilitates signaling in neuronal cells. Loss-of-function mutations cause neurodevelopmental disorders with intellectual disability and autism spectrum features, inherited in an autosomal recessive pattern. The high constraint scores (pLI 0.999, LOEUF 0.199) indicate the gene is highly intolerant to loss-of-function variants, consistent with severe developmental phenotypes when both alleles are affected.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
410 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 120 | 0 | 120 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 1 | 140 | 83 | 0 | 224 |
Likely Benign | 0 | 5 | 15 | 11 | 31 |
Benign | 0 | 5 | 4 | 4 | 13 |
Conflicting | — | 2 | |||
| Total | 1 | 150 | 230 | 15 | 398 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DLGAP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools