DOCK8
Chr 9ARdedicator of cytokinesis 8
Also known as: HEL-205, HIES2, MRD2, ZIR8
The protein is a guanine nucleotide exchange factor that activates CDC42, a small GTPase critical for immune cell migration, including dendritic cell and T-cell movement, as well as NK cell cytotoxicity. Biallelic mutations cause autosomal recessive hyper-IgE syndrome type 2 with recurrent infections due to impaired immune function. The gene shows minimal tolerance to loss-of-function variants (LOEUF 0.477), consistent with its essential role in immune system function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DOCK8 · 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
Local Hyperthermia Combined With Topical 3% Hydrogen Peroxide for Refractory Viral Warts
RECRUITINGEstablishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
ENROLLING BY INVITATIONApheresis of Patients With Immunodeficiency
RECRUITINGExternal Resources
Links to major genomics databases and tools