DOCK3

Chr 3p21.2

dedicator of cytokinesis 3

Aliases:: KIAA0299, MOCA, PBP
MANE:: ENST00000266037.10

OMIM: 603123 ↗NCBI: 1795 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DOCK3 · Q8IZD9

v62025-08-01

Predicted Aligned Error matrix for DOCK3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.4/ 100

Confident

2,030 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)38%
Low(50–70)5%
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)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
0.70
syndromic intellectual disability
0.62
hereditary disease
0.47
Global developmental delay
0.42
Hypotonia
0.42
complex neurodevelopmental disorder
0.37
schizophrenia
0.34
Alzheimer disease
0.33
septic shock
0.30
asthma
0.29

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

Protein function (UniProt)

Dedicator of cytokinesis protein 3

Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity)