DOCK9
Chr 13dedicator of cytokinesis 9
Also known as: ZIZ1, ZIZIMIN1
This protein functions as a guanine nucleotide-exchange factor that activates CDC42 and induces filopodia formation, playing a role in cellular signaling and cytoskeletal organization. Mutations cause intellectual disability and developmental delay with variable additional features including seizures, behavioral abnormalities, and dysmorphic features, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
404 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 | 89 | 0 | 89 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 227 | 4 | 0 | 231 |
Likely Benign | 0 | 2 | 1 | 9 | 12 |
Benign | 0 | 1 | 0 | 3 | 4 |
Conflicting | — | 1 | |||
| Total | 0 | 230 | 96 | 12 | 339 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DOCK9 · 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