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MGP005053

UniProt Annotations

Entry Information
Gene Nameribonucleotide reductase M2 B (TP53 inducible)
Protein EntryRIR2B_HUMAN
UniProt IDQ7LG56
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q7LG56-1; Sequence=Displayed; Name=2; Synonyms=Long form; IsoId=Q7LG56-2; Sequence=VSP_017670; Name=3; Synonyms=Short form gamma; IsoId=Q7LG56-3; Sequence=VSP_017669; Name=4; Synonyms=Short form beta; IsoId=Q7LG56-4; Sequence=VSP_017668; Name=5; Synonyms=Short form; IsoId=Q7LG56-5; Sequence=VSP_017671, VSP_017672; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=Q7LG56-6; Sequence=VSP_053585; Note=No experimental confirmation available.;
Catalytic Activity2'-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside diphosphate + thioredoxin. {ECO:0000255|PROSITE-ProRule:PRU10014, ECO:0000269|PubMed:16376858}.
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000269|PubMed:19728742}; Note=Binds 2 iron ions per subunit. {ECO:0000269|PubMed:19728742};
DiseaseMitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]: A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. {ECO:0000269|PubMed:17486094, ECO:0000269|PubMed:18504129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]: A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. {ECO:0000269|PubMed:19667227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 (PEOA5) [MIM:613077]: 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. {ECO:0000269|PubMed:19664747}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. {ECO:0000269|PubMed:10716435, ECO:0000269|PubMed:11517226, ECO:0000269|PubMed:11719458}.
InductionIn response to DNA damage in a wild-type p53/TP53- dependent manner. {ECO:0000269|PubMed:10716435}.
PathwayGenetic information processing; DNA replication.
Sequence CautionSequence=BAG65196.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW91842.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the ribonucleoside diphosphate reductase small chain family. {ECO:0000305}.
Subcellular LocationCytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage.
SubunitHeterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA damage. {ECO:0000269|PubMed:11517226, ECO:0000269|PubMed:12615712, ECO:0000269|PubMed:16376858, ECO:0000269|PubMed:19728742, ECO:0000269|Ref.17}.
Tissue SpecificityWidely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma. {ECO:0000269|PubMed:14583450}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rrm2b/";
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