Gene
dna2
- ID
- ZDB-GENE-090313-71
- Name
- DNA replication helicase/nuclease 2
- Symbol
- dna2 Nomenclature History
- Previous Names
-
- si:ch211-1n9.7 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have 5'-flap endonuclease activity and RNA binding activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis and replication fork reversal. Predicted to localize to cytoplasm and nuclear chromosome, telomeric region. Human ortholog(s) of this gene implicated in Seckel syndrome 8; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6; isolated growth hormone deficiency type IA; and mitochondrial myopathy. Is expressed in ovary. Orthologous to human DNA2 (DNA replication helicase/nuclease 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Yang et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | Alliance | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 |
Seckel syndrome 8 | Alliance | Seckel syndrome 8 | 615807 |
Rothmund-Thomson syndrome, type 4 | 620819 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR014808 | DNA replication factor Dna2, N-terminal |
Domain | IPR026851 | DNA replication ATP-dependent helicase/nuclease Dna2/JHS1, DEXXQ-box helicase domain |
Domain | IPR041677 | DNA2/NAM7 helicase, helicase domain |
Domain | IPR041679 | DNA2/NAM7 helicase-like, C-terminal |
Domain | IPR047187 | Upf1-like, C-terminal helicase domain |
Domain | IPR048459 | DNA2, rift barrel domain |
Family | IPR045055 | DNA2/NAM7-like helicase |
Homologous_superfamily | IPR011604 | PD-(D/E)XK endonuclease-like domain superfamily |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
Protein | Length | DNA2/NAM7 helicase, helicase domain | DNA2/NAM7 helicase-like, C-terminal | DNA2/NAM7-like helicase | DNA2, rift barrel domain | DNA replication ATP-dependent helicase/nuclease Dna2/JHS1, DEXXQ-box helicase domain | DNA replication factor Dna2, N-terminal | PD-(D/E)XK endonuclease-like domain superfamily | P-loop containing nucleoside triphosphate hydrolase | Upf1-like, C-terminal helicase domain |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8N7TD02
|
1371 | |||||||||
UniProtKB:A0A8M9PSF9
|
1374 |
Interactions and Pathways
No data available
Plasmids
No data available