DOCK11
Chr XXLRdedicator of cytokinesis 11
Also known as: ACG, ADMIDX, ZIZ2, bB128O4.1
DOCK11 encodes a guanine nucleotide-exchange factor that activates CDC42 and is required for marginal zone B-cell development and filopodia formation. Mutations cause X-linked recessive autoinflammatory disease with multisystem immune dysregulation. The gene is highly constrained against loss-of-function variants (LOEUF 0.37), indicating that complete loss of function is likely pathogenic.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 0 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 0 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DOCK11 · 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