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Aliases for RRM2B Gene

Aliases for RRM2B Gene

  • Ribonucleotide Reductase M2 B (TP53 Inducible) 2 3
  • 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
  • P53R2 3 4
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2 Short Form Beta 3
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2 Homolog 3
  • MTDPS8A 3
  • MTDPS8B 3

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 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy and mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy. Among its related pathways are Metabolism and Gene Expression. GO annotations related to this gene include 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RRM2B Gene

Chromosome:
8
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for RRM2B Gene

Protein Domains for RRM2B Gene

Graphical View of Domain Structure for InterPro Entry

Q7LG56

UniProtKB/Swiss-Prot:

RIR2B_HUMAN :
  • Belongs to the ribonucleoside diphosphate reductase small chain family.
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 IBA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity --
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:

Animal Model Products

miRNA for RRM2B Gene

miRTarBase miRNAs that target RRM2B

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RRM2B

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
extracellular 5
nucleus 5
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for RRM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IBA --
GO:0005971 ribonucleoside-diphosphate reductase complex IBA --
genes like me logo Genes that share ontologies with RRM2B: view

Pathways & Interactions 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

SIGNOR curated interactions for RRM2B Gene

Is activated by:

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

Drugs & Compounds for RRM2B Gene

(16) Drugs for RRM2B Gene - From: HMDB, DGIdb, ApexBio, NovoSeek, PharmGKB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 63
Gemcitabine Approved Pharma inhibitor, Biomarker Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1800
Cytarabine Approved, Investigational Pharma 995
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 150
Adenosine triphosphate Approved Nutra 0

(12) Additional Compounds for RRM2B Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
dcdp
  • 2'-Deoxy-Cytidine 5'-pyrophosphate
  • 2'-Deoxy-Cytidine pyrophosphate
  • 2'-Deoxycytidine 5'-diphosphate
  • 2'-Deoxycytidine diphosphate
  • 2'-Deoxycytidine-5'-diphosphate
800-73-7
dGDP
  • 2'-Deoxy-GDP
  • 2'-Deoxyguanosine-5'-diphosphate
  • 5'-dGDP
  • Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
3493-09-2
dudp
  • 2'-Deoxyuridine-5'-diphosphate
  • Deoxyuridine-diphosphate
  • dUDP
4208-67-7
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RRM2B

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for RRM2B Gene

This gene is overexpressed in Adrenal (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RRM2B: view

Protein tissue co-expression partners for RRM2B Gene

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia RRM2B 35
  • 97.99 (n)
  • 97.7 (a)
RRM2B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rrm2b 35
  • 89.24 (n)
  • 93.37 (a)
oppossum
(Monodelphis domestica)
Mammalia RRM2B 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRM2B 36
  • 94 (a)
OneToOne
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 37
  • 73 (a)
RnrS 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F19G12.2 37
  • 60 (a)
rnr-2 37
  • 69 (a)
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
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
rs28928586 -- 102,221,011(-) TCTTA(A/G)TACAT intron-variant
rs28928587 -- 102,220,437(-) TTAAA(A/G)TATCA intron-variant
rs28928588 -- 102,220,415(-) ATTCA(C/T)GTTTG intron-variant
rs28928589 -- 102,220,264(-) CATCT(G/T)AAGAA intron-variant
rs28928590 -- 102,220,108(-) GTGCG(C/T)ACCAC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7840n71 CNV Gain 21882294

Variation tolerance for RRM2B Gene

Residual Variation Intolerance Score: 17.91% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(11) MalaCards diseases for RRM2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy
mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy
  • mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  • adult-onset cpeo with mitochondrial myopathy
mitochondrial dna depletion syndrome 8a
  • mitochondrial dna depletion syndrome 8b
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5
  • progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5
- elite association
Search RRM2B in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for RRM2B

Genetic Association Database (GAD)
RRM2B
Human Genome Epidemiology (HuGE) Navigator
RRM2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RRM2B
genes like me logo Genes that share disorders with RRM2B: view

No data available for Genatlas for RRM2B Gene

Publications for RRM2B Gene

  1. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. (PMID: 17486094) Bourdon A. … Roetig A. (Nat. Genet. 2007) 2 23 67
  2. A ribonucleotide reductase gene involved in a p53-dependent cell- cycle checkpoint for DNA damage. (PMID: 10716435) Tanaka H. … Nakamura Y. (Nature 2000) 2 23 67
  3. A ribonucleotide reductase gene is a transcriptional target of p53 and p73. (PMID: 10980602) Nakano K. … Vousden K.H. (Oncogene 2000) 2 23 67
  4. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. (PMID: 19138848) Kollberg G. … Holme E. (Neuromuscul. Disord. 2009) 23 67
  5. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. (PMID: 19664747) Tyynismaa H. … Suomalainen A. (Am. J. Hum. Genet. 2009) 23 67

Products for RRM2B Gene

  • Addgene plasmids for RRM2B

Sources for RRM2B Gene

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