DOCK7

Chr 1p31.3

dedicator of cytokinesis 7

Aliases:: KIAA1771, ZIR2
MANE:: ENST00000635253.2

OMIM: 615730 ↗NCBI: 85440 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DOCK7 · Q96N67

v62025-08-01

Predicted Aligned Error matrix for DOCK7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.9/ 100

Confident

2,140 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)45%
Low(50–70)7%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.74
familial hypobetalipoproteinemia 2
0.52
hereditary disease
0.49
early-infantile DEE
0.37
Hypercholesterolemia
0.33
metabolic syndrome
0.30
metabolic disease
0.29
alcohol drinking
0.28
familial lipoprotein lipase deficiency
0.28
fetal akinesia deformation sequence 1
0.27

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

Protein function (UniProt)

Dedicator of cytokinesis protein 7

Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity)

Curated MONDO disease pages that list DOCK7 among their top associated genes.

genetic developmental and epileptic encephalopathyRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with DOCK7