Gene
DNA2
DNA replication helicase/nuclease 2
- HGNC 2939(opens in a new tab)
- Ensembl gene ENSG00000138346(opens in a new tab)
- NCBI Gene 1763(opens in a new tab)
Summary
- Cytogenetic location
- 10q21.3
- Coordinates
- Chromosome 10: 68,414,064–68,471,973 (GRCh38)
- Exons
- 21 exons across 57.9 kb
- Protein
- 1,060 amino acids
- Also known as
- KIAA0083
- Previous symbols
- DNA2L
- MANE Select transcript
- ENST00000358410.8NM_001080449.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Primary Mitochondrial Disease
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.
- Mitochondrial DNA Depletion Syndrome
Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.
How DNA2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.3 kb of the gene's 57.9 kb; 3,183 of those bases code for the protein.
How a genome test reads DNA2
14
positions in DNA2 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (7.1%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 57.9 kb of DNA2, introns included, not only the 4.3 kb of exons.
Traits linked to DNA2
The Human Phenotype Ontology lists these as features of the rare conditions DNA2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DNA2 gene: DNA replication helicase/nuclease 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/dna2
Dante Labs. DNA2 gene: DNA replication helicase/nuclease 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dna2
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