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
Is predicted to enable ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor. Involved in deoxyribonucleotide biosynthetic process. Acts upstream of or within cellular response to DNA damage stimulus. 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
Expression
All Expression Data
6 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Tseng et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rrm2b Human Ortholog
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
Associated With rrm2b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:Q32PP6 349
UniProtKB:Q7ZYW0 349
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations