DOCK11 Chromosome X
Dedicator of cytokinesis 11
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What This Gene Does
Predicted to enable guanyl-nucleotide exchange factor activity. Involved in positive regulation of filopodium assembly. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs"
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000147251
Associated Conditions (9)
Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
DOCK11 deficiency
Autoinflammatory disease
multisystem
with immune dysregulation
X-linked
Thyroid cancer
nonmedullary
1
Key Variants
RS200850919
Conflicting classifications of pathogenicity
Health Risk
RS201197807
Conflicting classifications of pathogenicity
Health Risk
RS1202446895
Likely pathogenic
Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia, Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
Health Risk
RS750008778
Likely pathogenic
DOCK11 deficiency, Autoinflammatory disease, multisystem
Health Risk
RS1023180244
Pathogenic
DOCK11 deficiency, DOCK11 deficiency
Health Risk
RS2520635065
Pathogenic
Autoinflammatory disease, multisystem, with immune dysregulation
Health Risk
RS2521619739
Pathogenic
Autoinflammatory disease, multisystem, with immune dysregulation
Health Risk
RS2521851616
Pathogenic
DOCK11 deficiency, Autoinflammatory disease, multisystem
Health Risk
RS2521885841
Pathogenic
DOCK11 deficiency, Autoinflammatory disease, multisystem
Health Risk
RS2521932028
Pathogenic
Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia, Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
Health Risk
RS2522168189
Pathogenic
DOCK11 deficiency, Autoinflammatory disease, multisystem
Health Risk
RS2522181650
Pathogenic
DOCK11 deficiency, DOCK11 deficiency
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200850919 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201197807 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1202446895 | Health Risk | Likely pathogenic | Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia, Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia |
| RS750008778 | Health Risk | Likely pathogenic | DOCK11 deficiency, Autoinflammatory disease, multisystem |
| RS1023180244 | Health Risk | Pathogenic | DOCK11 deficiency, DOCK11 deficiency |
| RS2520635065 | Health Risk | Pathogenic | Autoinflammatory disease, multisystem, with immune dysregulation |
| RS2521619739 | Health Risk | Pathogenic | Autoinflammatory disease, multisystem, with immune dysregulation |
| RS2521851616 | Health Risk | Pathogenic | DOCK11 deficiency, Autoinflammatory disease, multisystem |
| RS2521885841 | Health Risk | Pathogenic | DOCK11 deficiency, Autoinflammatory disease, multisystem |
| RS2521932028 | Health Risk | Pathogenic | Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia, Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia |
| RS2522168189 | Health Risk | Pathogenic | DOCK11 deficiency, Autoinflammatory disease, multisystem |
| RS2522181650 | Health Risk | Pathogenic | DOCK11 deficiency, DOCK11 deficiency |
| RS927463788 | Health Risk | Pathogenic | DOCK11 deficiency, Autoinflammatory disease, multisystem |