• Gene id: 50484

Gene Summary

• Gene Symbol: RRM2B   Gene   UCSC   Ensembl
• Aliases: MTDPS8A, MTDPS8B, P53R2
• Gene name: ribonucleotide reductase regulatory TP53 inducible subunit M2B
• Alternate names: ribonucleoside-diphosphate reductase subunit M2 B, TP53-inducible ribonucleotide reductase M2 B, p53-inducible ribonucleotide reductase small subunit 2 homolog, p53-inducible ribonucleotide reductase small subunit 2 short form beta, p53-inducible ribonucleoti,
• Gene location: 8q22.3 (168486470: 168519300)     Exons: 15     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 604712

Protein Summary

• Protein general information: Q7LG56  
  • 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)
  • Length: 351  
  • Mass: 40737
  • 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
• Sequence:

  MGDPERPEAAGLDQDERSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVDLSKDL
  PHWNKLKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSLLIDTYIRDPK
  KREFLFNAIETMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRGLMPGLTFSNELIS
  RDEGLHCDFACLMFQYLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMKQYIEFVADRLLVELGFS
  KVFQAENPFDFMENISLEGKTNFFEKRVSEYQRFAVMAETTDNVFTLDADF

• Structural information:
  • Interpro: IPR009078  IPR012348  IPR033909  IPR030475  IPR000358  
  • Prosite: PS00368
  • CDD: cd01049
  • PDB: 2VUX 3HF1 4DJN
  • PDBsum: 2VUX 3HF1 4DJN
  • DIP: 24264 48627
  • STRING: ENSP00000251810
• Other Databases: GeneCards:  RRM2B  Malacards:  RRM2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IBA	molecular function
GO:0009263	deoxyribonucleotide biosynthetic process	IBA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009263	deoxyribonucleotide biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:1902254	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:0014075	response to amine	IEA	biological process
GO:0003014	renal system process	IEA	biological process
GO:0006264	mitochondrial DNA replication	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0009200	deoxyribonucleoside triphosphate metabolic process	IEA	biological process
GO:0009263	deoxyribonucleotide biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism
hsa04115	p53 signaling pathway
hsa00480	Glutathione metabolism

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Progressive external ophthalmoplegia	KEGG:H01118
Mitochondrial DNA depletion syndrome	KEGG:H00469
Progressive external ophthalmoplegia	KEGG:H01118
Mitochondrial neurogastrointestinal encephalomyopathy	KEGG:H01390
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881