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 enable ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor. Acts upstream of or within DNA damage response and mitochondrial genome maintenance. Located in cytoplasm. Is expressed in several structures, including brain; eye; liver; otic vesicle; and pleuroperitoneal region. 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. 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