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Aliases for RRM2B Gene

Aliases for RRM2B Gene

  • Ribonucleotide Reductase M2 B (TP53 Inducible) 2 3
  • P53R2 3 4 6
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2-Like Protein 3 4
  • TP53-Inducible Ribonucleotide Reductase M2 B 3 4
  • EC 1.17.4.1 4 63
  • MTDPS8A 3 6
  • MTDPS8B 3 6
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2 Short Form Beta 3
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2 Homolog 3
  • Ribonucleoside-Diphosphate Reductase Subunit M2 B 3
  • PEOA5 6

External Ids for RRM2B Gene

Previous GeneCards Identifiers for RRM2B Gene

  • GC08M103284
  • GC08M102885
  • GC08M103173
  • GC08M103285
  • GC08M103216
  • GC08M098415

Summaries for RRM2B Gene

Entrez Gene Summary for RRM2B 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 synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

GeneCards Summary for RRM2B Gene

RRM2B (Ribonucleotide Reductase M2 B (TP53 Inducible)) is a Protein Coding gene. Diseases associated with RRM2B include mitochondrial dna depletion syndrome 8a and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transition metal ion binding and ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor. An important paralog of this gene is RRM2.

UniProtKB/Swiss-Prot for RRM2B Gene

  • 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 an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage.

Gene Wiki entry for RRM2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRM2B Gene

Genomics for RRM2B Gene

Regulatory Elements for RRM2B Gene

Genomic Location for RRM2B Gene

Start:
102,204,501 bp from pter
End:
102,239,118 bp from pter
Size:
34,618 bases
Orientation:
Minus strand

Genomic View for RRM2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RRM2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRM2B Gene

Proteins for RRM2B Gene

  • Protein details for RRM2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7LG56-RIR2B_HUMAN
    Recommended name:
    Ribonucleoside-diphosphate reductase subunit M2 B
    Protein Accession:
    Q7LG56
    Secondary Accessions:
    • B4E2N4
    • Q17R22
    • Q75PQ6
    • Q75PQ7
    • Q75PY8
    • Q75PY9
    • Q86YE3
    • Q9NPD6
    • Q9NTD8
    • Q9NUW3

    Protein attributes for RRM2B Gene

    Size:
    351 amino acids
    Molecular mass:
    40737 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 2 iron ions per subunit.;
    Quaternary structure:
    • Heterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA damage.
    SequenceCaution:
    • Sequence=BAG65196.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW91842.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RRM2B Gene

    Alternative splice isoforms for RRM2B Gene

neXtProt entry for RRM2B Gene

Proteomics data for RRM2B Gene at MOPED

Post-translational modifications for RRM2B Gene

  • Ubiquitination at Lys168
  • Modification sites at PhosphoSitePlus

Other Protein References for RRM2B Gene

Domains for RRM2B Gene

Protein Domains for RRM2B Gene

Graphical View of Domain Structure for InterPro Entry

Q7LG56

UniProtKB/Swiss-Prot:

RIR2B_HUMAN :
  • Q7LG56
Family:
  • Belongs to the ribonucleoside diphosphate reductase small chain family.
genes like me logo Genes that share domains with RRM2B: view

No data available for Gene Families for RRM2B Gene

Function for RRM2B Gene

Molecular function for RRM2B Gene

UniProtKB/Swiss-Prot CatalyticActivity: 2-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside diphosphate + thioredoxin.
UniProtKB/Swiss-Prot 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 an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage.
UniProtKB/Swiss-Prot Induction: In response to DNA damage in a wild-type p53/TP53-dependent manner.

Enzyme Numbers (IUBMB) for RRM2B Gene

Gene Ontology (GO) - Molecular Function for RRM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004748 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RRM2B: view
genes like me logo Genes that share phenotypes with RRM2B: view

Animal Models for RRM2B Gene

MGI Knock Outs for RRM2B:

miRNA for RRM2B Gene

miRTarBase miRNAs that target RRM2B

No data available for Transcription Factor Targeting and HOMER Transcription for RRM2B Gene

Localization for RRM2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRM2B Gene

Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RRM2B Gene COMPARTMENTS Subcellular localization image for RRM2B gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for RRM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with RRM2B: view

Pathways for RRM2B Gene

genes like me logo Genes that share pathways with RRM2B: view

UniProtKB/Swiss-Prot Q7LG56-RIR2B_HUMAN

  • Pathway: Genetic information processing; DNA replication

Gene Ontology (GO) - Biological Process for RRM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0003014 renal system process IEA --
GO:0006264 mitochondrial DNA replication IEA --
GO:0006281 DNA repair IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with RRM2B: view

Compounds for RRM2B Gene

(11) HMDB Compounds for RRM2B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
CDP
  • CDP
63-38-7
dADP
  • 2'-deoxyadenosine-5'-diphosphate
2793-06-8
dCDP
  • 2'-Deoxycytidine 5'-diphosphate
800-73-7

(1) Drugbank Compounds for RRM2B Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cladribine
  • 2-CdA
4291-63-8 target inhibitor

(8) Novoseek inferred chemical compound relationships for RRM2B Gene

Compound -log(P) Hits PubMed IDs
3-aminopyridine-2-carboxaldehyde thiosemicarbazone 80.1 1
hydroxyurea 49.5 2
adriamycin 43 6
thymidine 15.4 3
cisplatin 12.6 2

(2) PharmGKB related drug/compound annotations for RRM2B Gene

Drug/compound Annotation
cladribine CA
cytarabine CA
genes like me logo Genes that share compounds with RRM2B: view

Transcripts for RRM2B Gene

Unigene Clusters for RRM2B Gene

Ribonucleotide reductase M2 B (TP53 inducible):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RRM2B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c
SP1: - -
SP2: - - - -
SP3:
SP4: - - - - - - - - -
SP5: - - - - - - - - -
SP6:
SP7: - - - - - - - - - - -

Relevant External Links for RRM2B Gene

GeneLoc Exon Structure for
RRM2B
ECgene alternative splicing isoforms for
RRM2B

Expression for RRM2B Gene

mRNA expression in normal human tissues for RRM2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RRM2B Gene

SOURCE GeneReport for Unigene cluster for RRM2B Gene Hs.512592

mRNA Expression by UniProt/SwissProt for RRM2B Gene

Q7LG56-RIR2B_HUMAN
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.
genes like me logo Genes that share expressions with RRM2B: view

No data available for mRNA differential expression in normal tissues for RRM2B Gene

Orthologs for RRM2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RRM2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRM2B 35
  • 97.99 (n)
  • 97.7 (a)
RRM2B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RRM2B 35
  • 92.03 (n)
  • 94.52 (a)
RRM2B 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RRM2B 35
  • 88.21 (n)
  • 89.45 (a)
RRM2B 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rrm2b 35
  • 89.15 (n)
  • 92.8 (a)
Rrm2b 16
Rrm2b 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RRM2B 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRM2B 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rrm2b 35
  • 89.24 (n)
  • 93.37 (a)
chicken
(Gallus gallus)
Aves RRM2B 35
  • 81.08 (n)
  • 88.76 (a)
RRM2B 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RRM2B 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rrm2b 35
  • 77.05 (n)
  • 84.57 (a)
zebrafish
(Danio rerio)
Actinopterygii rrm2b 35
  • 70.81 (n)
  • 75.43 (a)
rrm2b 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RnrS 36
  • 64 (a)
OneToMany
RnrS 37
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea F19G12.2 36
  • 10 (a)
ManyToMany
F54H12.2 36
  • 5 (a)
ManyToMany
F58F9.1 36
  • 12 (a)
ManyToMany
K09F6.5 36
  • 6 (a)
ManyToMany
rnr-2 36
  • 59 (a)
ManyToMany
Y57G11C.21 36
  • 9 (a)
ManyToMany
F19G12.2 37
  • 60 (a)
rnr-2 37
  • 69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNR2 36
  • 54 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RNR2A 35
  • 62.39 (n)
  • 65.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2425 36
  • 65 (a)
OneToMany
Species with no ortholog for RRM2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RRM2B Gene

ENSEMBL:
Gene Tree for RRM2B (if available)
TreeFam:
Gene Tree for RRM2B (if available)

Paralogs for RRM2B Gene

Paralogs for RRM2B Gene

genes like me logo Genes that share paralogs with RRM2B: view

Variants for RRM2B Gene

Sequence variations from dbSNP and Humsavar for RRM2B Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs768494 -- 102,215,061(+) aaaaa(A/G)aaaaa intron-variant
rs1052069 -- 102,204,670(-) GCCTG(C/T)ATGTA utr-variant-3-prime
rs1052071 -- 102,204,606(-) AGTAT(A/G)TTGAA utr-variant-3-prime
rs1055958 -- 102,206,098(-) AGGTA(A/G)TATGT utr-variant-3-prime
rs1265116 -- 102,206,645(+) GTATA(C/G)AGAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RRM2B Gene

Variant ID Type Subtype PubMed ID
dgv7840n71 CNV Gain 21882294

Relevant External Links for RRM2B Gene

HapMap Linkage Disequilibrium report
RRM2B
Human Gene Mutation Database (HGMD)
RRM2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRM2B Gene

Disorders for RRM2B Gene

(2) OMIM Diseases for RRM2B Gene (604712)

UniProtKB/Swiss-Prot

RIR2B_HUMAN
  • Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]: A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. {ECO:0000269 PubMed:17486094, ECO:0000269 PubMed:18504129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]: A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. {ECO:0000269 PubMed:19667227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 (PEOA5) [MIM:613077]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:19664747}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for RRM2B Gene

(10) Novoseek inferred disease relationships for RRM2B Gene

Disease -log(P) Hits PubMed IDs
colon adenocarcinoma 38.5 3
carcinoma squamous cell 28.8 9
cancer 28.3 21
colon cancer 17.9 2
primary tumor 17.3 4

Relevant External Links for RRM2B

Genetic Association Database (GAD)
RRM2B
Human Genome Epidemiology (HuGE) Navigator
RRM2B
genes like me logo Genes that share disorders with RRM2B: view

Publications for RRM2B Gene

  1. A ribonucleotide reductase gene involved in a p53-dependent cell- cycle checkpoint for DNA damage. (PMID: 10716435) Tanaka H. … Nakamura Y. (Nature 2000) 2 3 4 23
  2. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. (PMID: 17486094) Bourdon A. … Roetig A. (Nat. Genet. 2007) 2 3 4 23
  3. Wild-type p53 regulates human ribonucleotide reductase by protein- protein interaction with p53R2 as well as hRRM2 subunits. (PMID: 12615712) Xue L. … Yen Y. (Cancer Res. 2003) 3 4 23
  4. The human ribonucleotide reductase subunit hRRM2 complements p53R2 in response to UV-induced DNA repair in cells with mutant p53. (PMID: 14583450) Zhou B. … Yen Y. (Cancer Res. 2003) 3 4 23
  5. Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls. (PMID: 16127747) Deng Z.L. … Wargovich M.J. (World J. Gastroenterol. 2005) 3 23 48

Products for RRM2B Gene

Sources for RRM2B Gene

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