Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Rrm2b. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of January 17, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Rrm2b
  • participates in the following biological processes:
    • deoxyribonucleotide biosynthetic process ^[2]
    • oxidation-reduction process ^[2]
  • performs the following molecular functions:
    • ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Rrm2b
  • participates in the following biological processes:
    • deoxyribonucleoside triphosphate metabolic process ^{[1, 3]}
    • DNA repair ^[3]
    • kidney development ^[3]
    • mitochondrial DNA replication ^[1]
    • negative regulation of apoptotic process ^[3]
    • renal system process ^[3]
    • response to oxidative stress ^[3]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Rrm2b
  • is located in the following cellular components:
    • mitochondrion ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Rrm2b:
  • is located in the following cellular components:
    • cytoplasm
    • nucleus

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Summary text based on GO annotations supported by structural data

• Rrm2b encodes a protein or proteins that contain the following InterPro domains: Ferritin/ribonucleotide reductase-like, Ribonucleotide reductase small subunit, Ribonucleotide reductase-related, indicating that the gene product:
  • participates in the following biological processes:
    • deoxyribonucleoside diphosphate metabolic process
  • performs the following molecular functions:
    • oxidoreductase activity
    • transition metal ion binding
  • is located in the following cellular components:
    • ribonucleoside-diphosphate reductase complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Rrm2b indicates that it:
  • participates in the following biological processes:
    • DNA replication
    • response to DNA damage stimulus
  • performs the following molecular functions:
    • metal ion binding
    • oxidoreductase activity

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References

1. Bourdon A et al. (2007) Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet, 39:776-80. (PubMed:17486094)
2. Guittet O et al. (2001) Mammalian p53R2 protein forms an active ribonucleotide reductase in vitro with the R1 protein, which is expressed both in resting cells in response to DNA damage and in proliferating cells. J Biol Chem, 276:40647-51. (PubMed:11517226)
3. Kimura T et al. (2003) Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nat Genet, 34:440-5. (PubMed:12858174)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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