Entity Details

Primary name RRM2B
Entity type gene
Source Source Link

Details

PrimaryID50484
RefseqGeneNG_016617
SymbolRRM2B
Nameribonucleotide reductase regulatory TP53 inducible subunit M2B
Chromosome8
Location8q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-03-23
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsRIR2B_HUMAN

GO terms

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GOName
GO:0004748 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0009263 deoxyribonucleotide biosynthetic process
GO:0015949 nucleobase-containing small molecule interconversion
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
613077 OMIMProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 (PEOA5)A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. The disease is caused by variants affecting the gene represented in this entry.
612075 OMIMMitochondrial DNA depletion syndrome 8A (MTDPS8A)A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. The disease is caused by variants affecting the gene represented in this entry.
612075 OMIMMitochondrial DNA depletion syndrome 8A (MTDPS8A)A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. The disease is caused by variants affecting the gene represented in this entry.