DENND1A
Chr 9DENN domain containing 1A
Also known as: FAM31A, KIAA1608
DENND1A encodes a guanine nucleotide exchange factor that activates RAB35 and regulates clathrin-mediated endocytosis of synaptic vesicles and exit from early endosomes. Loss-of-function mutations cause neurodevelopmental disorders with an autosomal dominant inheritance pattern due to haploinsufficiency. The protein's critical role in synaptic vesicle endocytosis explains the neurological phenotype when cellular trafficking is disrupted.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DENND1A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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