Gene
rrm2b
- ID
- ZDB-GENE-030616-614
- Name
- ribonucleotide reductase M2 b
- Symbol
- rrm2b Nomenclature History
- Previous Names
-
- fb72h01
- fb93b05
- si:zc215i13.5
- wu:fb72h01
- wu:fb93b05
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor. Involved in cellular response to DNA damage stimulus. Localizes to cytoplasm. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5; mitochondrial DNA depletion syndrome 8a; and mitochondrial DNA depletion syndrome 8b. Is expressed in several structures, including brain; eye; liver; otic vesicle; and pleuroperitoneal region. Orthologous to human RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Tseng et al., 2020
- 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 5 | Alliance | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 613077 |
| mitochondrial DNA depletion syndrome 8a | Alliance | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | 612075 |
| mitochondrial DNA depletion syndrome 8a | Alliance | Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 612075 |
| mitochondrial DNA depletion syndrome 8b | Alliance | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | 612075 |
| mitochondrial DNA depletion syndrome 8b | Alliance | Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 612075 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 268315 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR030475 | Ribonucleotide reductase small subunit, acitve site |
| Family | IPR000358 | Ribonucleotide reductase small subunit family |
| Family | IPR033909 | Ribonucleotide reductase small subunit |
| Homologous_superfamily | IPR009078 | Ferritin-like superfamily |
| Homologous_superfamily | IPR012348 | Ribonucleotide reductase-like |
Domain Details Per Protein
| Protein | Length | Ferritin-like superfamily | Ribonucleotide reductase-like | Ribonucleotide reductase small subunit | Ribonucleotide reductase small subunit, acitve site | Ribonucleotide reductase small subunit family |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZYW0
|
349 |
Interactions and Pathways
No data available
Plasmids
No data available