DNA2

Chr 10

DNA replication helicase/nuclease 2

Also known as: DNA2L, RTS4, hDNA2

NCBI Gene: 1763ENSG00000138346UniProt: P51530

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
UniProtSeckel syndrome 8
UniProtRothmund-Thomson syndrome 4

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ADModerateconsider for supplementary testing
1
Active trials
66
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.97
OE 0.70 (0.54–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.74Z-score
OE missense 0.91 (0.85–0.98)
524 obs / 573.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.54–0.93)
0≤0.351.4
Missense OE?0.91 (0.85–0.98)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 36 / 51.3Missense obs/exp: 524 / 573.6Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNA2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients