Contents

RRM2B

Protein-coding gene in the species Homo sapiens

RRM2B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2VUX, 3HF1, 4DJN
Identifiers
Aliases	RRM2B, MTDPS8A, MTDPS8B, P53R2, ribonucleotide reductase regulatory TP53 inducible subunit M2B, RCDFRD
External IDs	OMIM: 604712; MGI: 2155865; HomoloGene: 56723; GeneCards: RRM2B; OMA:RRM2B - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.3 Start 102,204,502 bp[1] End 102,238,961 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 B3.1 Start 37,924,196 bp[2] End 37,961,562 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte deltoid muscle islet of Langerhans quadriceps femoris muscle vastus lateralis muscle germinal epithelium tibialis anterior muscle Skeletal muscle tissue of rectus abdominis palpebral conjunctiva pars reticulata Top expressed in zygote secondary oocyte primary oocyte cardiac muscle tissue of left ventricle Rostral migratory stream sciatic nerve cingulate gyrus substantia nigra habenula iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding protein binding oxidoreductase activity ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Cellular component mitochondrion nucleus nucleoplasm cytoplasm cytosol ribonucleoside-diphosphate reductase complex Biological process deoxyribonucleoside triphosphate metabolic process renal system process kidney development response to oxidative stress mitochondrial DNA replication cellular response to DNA damage stimulus deoxyribonucleotide biosynthetic process DNA replication negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator response to amine DNA repair nucleobase-containing small molecule interconversion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50484 382985 Ensembl ENSG00000048392 ENSMUSG00000022292 UniProt Q7LG56 Q6PEE3 RefSeq (mRNA) NM_015713 NM_001172477 NM_001172478 NM_199476 NM_001357022 NM_001357023 RefSeq (protein) NP_001165948 NP_001165949 NP_056528 NP_955770 NP_001343951 NP_001343952 Location (UCSC) Chr 8: 102.2 – 102.24 Mb Chr 15: 37.92 – 37.96 Mb PubMed search [3] [4]
Wikidata
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Ribonucleotide-diphosphate reductase subunit M2 B is an enzyme that in humans is encoded by the RRM2B gene.^[5][6][7][8] The gene encoding the RRM2B protein is located on chromosome 8, at position 8q23.1. The gene and its products are also known by designations MTDPS8A, MTDPS8B, and p53R2.

Function[edit]

RRM2B codes for one of two versions of the R2 subunit of ribonucleotide reductase, which generates nucleotide precursors required for DNA replication by reducing ribonucleoside diphosphates to deoxyribonucloside diphosphates. The version of R2 encoded by RRM2B is induced by p53, and is required for normal DNA repair and mtDNA synthesis in non-proliferating cells. The other form of R2 is expressed only in dividing cells.^[9]

Interactions[edit]

RRM2B has been shown to interact with Mdm2^[10] and Ataxia telangiectasia mutated.^[10]

Clinical relevance[edit]

Abnormalities in this gene are one of the causes of mitochondrial DNA depletion syndrome (MDDS).^[11][12] Neonatal hypotonia, developmental delay, encephalopathy, with seizures, deafness and lactic acidosis have been associated with mutations in this gene. MDDS is fatal, with death occurring from respiratory failure in early childhood.^[13][14]

It has been associated with some cases of pediatric acute liver failure.^[15]

Mutations in this gene have been shown to cause progressive external ophthalmoplegia.^[16]

Increased expression of RRM2B has been correlated with gemcitabine resistance in human cholangiocarcinoma cells^[17] and may be predictive of lack of clinical benefit from gemcitabine for human cancers.

References[edit]

Further reading[edit]