DOK7

Chr 4p16.3

docking protein 7

Aliases:: FLJ33718, FLJ39137, Dok-7
MANE:: ENST00000340083.6

OMIM: 610285 ↗NCBI: 285489 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DOK7 · Q18PE1

v62025-08-01

Predicted Aligned Error matrix for DOK7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.3/ 100

Low

504 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)9%
Low(50–70)7%
Very low(< 50)48%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
IUGR and IGF abnormalities
Monogenic short stature
Unknown
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.83
fetal akinesia deformation sequence 1
0.75
congenital myasthenic syndrome
0.64
Postsynaptic congenital myasthenic syndromes
0.62
hereditary disease
0.47
3C syndrome
0.46
fetal akinesia deformation sequence
0.46
coronary artery disorder
0.43
Abnormality of limbs
0.40
Abnormality of the skeletal system
0.38

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

Protein function (UniProt)

Protein Dok-7

Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK