DONSON Gene: DNA Replication and Repair Protein
Critical role in DNA replication fork stability and microcephaly syndromes
Gene Information Card
| Symbol | DONSON |
|---|---|
| Full Name | DNA replication fork stabilization factor DONSON |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.1 |
| NCBI Gene ID | 29980 ncbi.nlm.nih.gov/gene/29980 |
| Ensembl ID | ENSG00000159147 |
| UniProt ID | Q9NVP1 |
| OMIM ID | 611428 |
| HGNC ID | 2993 |
| Aliases | C21orf60, DONSON1, DONSON2 |
Description
The DONSON gene encodes a protein essential for DNA replication fork stability and repair. It is involved in the maintenance of genome integrity during S phase. Mutations in DONSON cause microcephaly, short stature, and limb abnormalities, including Meier-Gorlin syndrome and other primordial dwarfism disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 5 | Loss of function leads to impaired DNA replication and cell cycle progression | PMID: 28191890 |
| Microcephaly, short stature, and limb abnormalities | Disrupted replication fork stability causes reduced cell proliferation | PMID: 28191890 |
| Primordial dwarfism | Defective DNA replication in developing tissues | PMID: 28191890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| K562 | 10.5 | Medium expression |
| HEK293 | 8.0 | Medium expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1492C>T (p.Arg498*) | Nonsense | Rare | Loss of function, truncated protein |
| c.1000G>A (p.Gly334Arg) | Missense | Rare | Impaired replication fork stabilization |
| c.1666_1667del (p.Lys556Glufs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DONSON mutations are loss-of-function, leading to reduced protein levels or impaired DNA replication fork stabilization.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • replication fork protection | • nucleus |
| • protein binding |
Pathways
• DNA replication
• Fanconi anemia pathway
• Homologous recombination
Protein Summary
The DONSON protein is a 648-amino acid nuclear protein that localizes to replication forks during S phase. It interacts with MCM2-7 helicase and other replication factors to stabilize stalled forks and promote restart. Its C-terminal domain is critical for fork protection.
Related Services
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|---|---|---|---|---|
| No Data | ||||
