Gene Gene information from NCBI Gene database.
Entrez ID 50484
Gene name Ribonucleotide reductase regulatory TP53 inducible subunit M2B
Gene symbol RRM2B
Synonyms (NCBI Gene)
MTDPS8AMTDPS8BP53R2RCDFRD
Chromosome 8
Chromosome location 8q22.3
Summary 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.
44
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.
771
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 factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CREB1 Unknown 11978967
NFKB1 Unknown 11978967
POU2F1 Unknown 11978967
TP53 Unknown 10716435;15856024
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604712 17296 ENSG00000048392
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial disease Likely pathogenic; Pathogenic rs515726180, rs515726199 RCV000508788
RCV000508947
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 8a Likely pathogenic; Pathogenic rs1811166166, rs2132555188, rs515726180, rs515726181, rs515726186, rs515726196, rs182614164, rs121918307, rs515726185, rs121918308, rs121918309, rs863224191, rs863224914, rs2488859672, rs2488868897
View all (4 more)
RCV001331787
RCV002498084
RCV001089491
RCV000659255
RCV002262712
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome 8B (MNGIE type) Pathogenic rs267607024 RCV000005725
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Likely pathogenic; Pathogenic rs2132555188, rs515726180, rs515726181, rs515726196, rs182614164, rs121918310, rs863224191, rs768498594, rs515726199, rs515726201 RCV002498084
RCV002498540
RCV005042220
RCV002483200
RCV005042222
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adult Fanconi syndrome Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Disgenet, GenCC, Orphanet
Disgenet, GenCC, Orphanet
Disgenet, GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAMPTOCORMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 24382854 Associate
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11920641
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 17311703
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 16127747
★☆☆☆☆
Found in Text Mining only
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy External Ophthalmoplegia With Mitochondrial Myopathy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 39217320 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 17786248 Associate
★☆☆☆☆
Found in Text Mining only