DONSON

Chr 21q22.11

DNA replication fork stabilization factor DONSON

Aliases:: B17, C2TA, DKFZP434M035
MANE:: ENST00000303071.10

OMIM: 611428 ↗NCBI: 29980 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DONSON · Q9NYP3

v62025-08-01

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

Mean pLDDT

72.4/ 100

Confident

566 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)21%
Low(50–70)12%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

microcephaly, short stature, and limb abnormalities
0.78
microcephaly-micromelia syndrome
0.68
hereditary disease
0.52
Meier-Gorlin syndrome
0.51
microcephaly
0.44
DONSON-related microcephaly-short stature-limb abnormalities spectrum
0.34
Ear-patella-short stature syndrome
0.30
ZTTK syndrome
0.11
breast cancer
0.08
posterior cortical atrophy
0.08

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

Protein function (UniProt)

Protein downstream neighbor of Son

Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability