RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)

2003-02-01  

Identity

HGNC
LOCATION
8q22.3
LOCUSID
ALIAS
MTDPS8A,MTDPS8B,P53R2
FUSION GENES

Other Information

Locus ID:

NCBI: 50484
MIM: 604712
HGNC: 17296
Ensembl: ENSG00000048392

Variants:

dbSNP: 50484
ClinVar: 50484
TCGA: ENSG00000048392
COSMIC: RRM2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000048392ENST00000251810Q7LG56
ENSG00000048392ENST00000395912Q7LG56
ENSG00000048392ENST00000519317Q7LG56
ENSG00000048392ENST00000519962Q7LG56
ENSG00000048392ENST00000522368H0YAV1
ENSG00000048392ENST00000522394Q7LG56
ENSG00000048392ENST00000523957E5RG52
ENSG00000048392ENST00000621845A0A0C4DGZ6

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Glutathione metabolismKEGGko00480
p53 signaling pathwayKEGGko04115
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
Glutathione metabolismKEGGhsa00480
p53 signaling pathwayKEGGhsa04115
Metabolic pathwaysKEGGhsa01100
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Synthesis and interconversion of nucleotide di- and triphosphatesREACTOMER-HSA-499943

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444760Leukemia, Myeloid, AcuteDiseaseClinicalAnnotationassociatedPD24024897
PA449027cladribineChemicalClinicalAnnotationassociatedPD24024897
PA449177cytarabineChemicalClinicalAnnotationassociatedPD24024897

References

Pubmed IDYearTitleCitations
174860942007Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.206
126157122003Wild-type p53 regulates human ribonucleotide reductase by protein-protein interaction with p53R2 as well as hRRM2 subunits.53
228474452012Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells.46
164074182006Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients.44
270044052016Genomic landscape of DNA repair genes in cancer.40
196647472009A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.39
145834502003The human ribonucleotide reductase subunit hRRM2 complements p53R2 in response to UV-induced DNA repair in cells with mutant p53.30
117194582001p53R2-dependent pathway for DNA synthesis in a p53-regulated cell cycle checkpoint.27
185041292008Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.25
196672272009Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.24

Citation

Dessen P

RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42176/rrm2b