DOCK11

Chr Xq24

dedicator of cytokinesis 11

Aliases:: FLJ32122, FLJ43653, ZIZ2, ACG
MANE:: ENST00000276202.9

OMIM: 300681 ↗NCBI: 139818 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DOCK11 · Q5JSL3

v62025-08-01

Predicted Aligned Error matrix for DOCK11 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.9/ 100

Confident

2,073 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)43%
Low(50–70)8%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

autoinflammatory disease, multisystem, with immune dysregulation, X-linked
0.75
Varicose veins
0.30
ovarian carcinoma
0.04
infection
0.03
pituitary cancer
0.02
lung carcinoma
0.02
immunodeficiency disease
0.01
mesothelioma
0.01
immune system disorder
0.01
Immunodeficiency
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dedicator of cytokinesis protein 11

Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP (PubMed:37342957). Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology (By similarity). Facilitates filopodia formation through the activation of CDC42 (PubMed:37342957)