Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50484
Gene name Gene Name - the full gene name approved by the HGNC.
Ribonucleotide reductase regulatory TP53 inducible subunit M2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RRM2B
Synonyms (NCBI Gene) Gene synonyms aliases
MTDPS8A, MTDPS8B, P53R2, RCDFRD
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 sy
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918307 G>A Pathogenic Stop gained, coding sequence variant
rs121918308 C>G,T Pathogenic Missense variant, coding sequence variant
rs121918309 C>A Pathogenic Missense variant, coding sequence variant
rs121918310 G>A Pathogenic Stop gained, coding sequence variant
rs121918311 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021612 hsa-miR-142-3p Microarray 17612493
MIRT1319890 hsa-miR-124 CLIP-seq
MIRT1319891 hsa-miR-1272 CLIP-seq
MIRT1319892 hsa-miR-129-3p CLIP-seq
MIRT1319893 hsa-miR-137 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
CREB1 Unknown 11978967
NFKB1 Unknown 11978967
POU2F1 Unknown 11978967
TP53 Unknown 10716435;15856024
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000731 Process DNA synthesis involved in DNA repair NAS 10716435
GO:0001822 Process Kidney development IEA
GO:0003014 Process Renal system process IEA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604712 17296 ENSG00000048392
Protein
UniProt ID Q7LG56
Protein name Ribonucleoside-diphosphate reductase subunit M2 B (EC 1.17.4.1) (TP53-inducible ribonucleotide reductase M2 B) (p53-inducible ribonucleotide reductase small subunit 2-like protein) (p53R2)
Protein function Plays 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
PDB 2VUX , 3HF1 , 4DJN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00268 Ribonuc_red_sm 41 308 Ribonucleotide reductase, small chain Domain
Tissue specificity TISSUE SPECIFICITY: Widely 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}.
Sequence
Sequence length 351
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Pyrimidine metabolism
Glutathione metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
p53 signaling pathway
  Interconversion of nucleotide di- and triphosphates
TP53 Regulates Metabolic Genes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial DNA Depletion Syndrome Mitochondrial DNA depletion syndrome 8a rs515726180, rs515726181, rs121918307, rs515726196, rs515726185, rs863224914, rs121918308, rs1587178460, rs121918309, rs1587186073 N/A
progressive external ophthalmoplegia with mitochondrial dna deletions Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 rs515726201, rs121918310, rs515726199 N/A
Fatal Mitochondrial Disease Mitochondrial disease rs515726199, rs515726180 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
External ophthalmoplegia autosomal dominant progressive external ophthalmoplegia N/A N/A GenCC
External Ophthalmoplegia With Mitochondrial Myopathy adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy N/A N/A GenCC
Kearns Sayre Syndrome Kearns-Sayre syndrome N/A N/A GenCC
Mitochondrial neurogastrointestinal encephalomyopathy mitochondrial neurogastrointestinal encephalomyopathy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 24382854
Adenocarcinoma of Lung Inhibit 40191558
Adenoma Associate 16127747
Asthma Associate 39217320
Ataxia Telangiectasia Associate 17786248
Breast Neoplasms Associate 24215511, 26372358, 35224098
Bulbar Palsy Progressive Associate 23107649
Carcinogenesis Associate 29237424
Carcinoma Hepatocellular Stimulate 36713030
Carcinoma Non Small Cell Lung Associate 16619496