DNA2 (NM_001080449) - DNA replication helicase/nuclease 2

Dna Replication Atp-Dependent Helicase/nuclease Dna2

Mutations Visualisation

Protein summary

This is preferred isoform of DNA2 protein.
DNA2: DNA replication ATP-dependent helicase/nuclease DNA2
Description:

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].

Strand
-
Chromosome
10
Protein
1060 residues
All mutations
136
PTM sites
22
CDS
70,174,795 - 70,231,621
Transcription
70,173,820 - 70,231,730
6.13% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 1763
Uniprot
Ensembl