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RRM2B Gene

protein-coding   GIFtS: 72
GCID: GC08M103216

Ribonucleotide Reductase M2 B (TP53 Inducible)

  See RRM2B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribonucleotide Reductase M2 B (TP53 Inducible)1 2     MTDPS8B2 5
P53R22 3 5     P53-Inducible Ribonucleotide Reductase Small Subunit 2 Homolog2
P53-Inducible Ribonucleotide Reductase Small Subunit 2-Like Protein2 3     P53-Inducible Ribonucleotide Reductase Small Subunit 2 Short Form Beta2
TP53-Inducible Ribonucleotide Reductase M2 B2 3     Ribonucleoside-Diphosphate Reductase Subunit M2 B2
EC 1.17.4.13 8     p53R23
MTDPS8A2 5     PEOA55

External Ids:    HGNC: 172961   Entrez Gene: 504842   Ensembl: ENSG000000483927   OMIM: 6047125   UniProtKB: Q7LG563   

Export aliases for RRM2B gene to outside databases

Previous GC identifers: GC08M102222 GC08M103284 GC08M102885 GC08M103173 GC08M103285 GC08M098415


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and mitochondrial dna depletion syndrome 8b. 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: RIR2B_HUMAN, Q7LG56
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

Gene Wiki entry for RRM2B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RRM2B gene promoter:
         AREB6   Elk-1   FAC1   AML1a   CUTL1   C/EBPalpha   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRRM2B promoter sequence
   Search Chromatin IP Primers for RRM2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RRM2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q23.1   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q23.1

RRM2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RRM2B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M103216:  view genomic region     (about GC identifiers)

Start:
103,216,729 bp from pter      End:
103,251,346 bp from pter
Size:
34,618 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56 (See protein sequence)
Recommended Name: Ribonucleoside-diphosphate reductase subunit M2 B  
Size: 351 amino acids; 40737 Da
Cofactor: Binds 2 iron ions per subunit
Subunit: Heterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA
damage
Sequence caution: Sequence=BAG65196.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=EAW91842.1; Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for RRM2B:
2VUX (3D)        3HF1 (3D)        4DJN (3D)    
Secondary accessions: B4E2N4 Q17R22 Q75PQ6 Q75PQ7 Q75PY8 Q75PY9 Q86YE3 Q9NPD6 Q9NTD8 Q9NUW3
Alternative splicing: 6 isoforms:  Q7LG56-1   Q7LG56-2   Q7LG56-3   Q7LG56-4   Q7LG56-5   Q7LG56-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RRM2B: NX_Q7LG56

Explore proteomics data for RRM2B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys168
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RRM2B (Q7LG56) (see all 18)
     DIWKMYK  AFAAVEG  LFNAIET  HILAFFA 


    See RRM2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001165948.1  NP_001165949.1  NP_056528.2  

    ENSEMBL proteins: 
     ENSP00000251810   ENSP00000428115   ENSP00000429140   ENSP00000430641   ENSP00000379248  
     ENSP00000429578   ENSP00000427830  
    Reactome Protein details: Q7LG56

    RRM2B Human Recombinant Protein Products:

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    Novus Biologicals RRM2B Proteins
    Novus Biologicals RRM2B Lysate
    Sino Biological Recombinant Protein for RRM2B
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RRM2B

     
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    antibodies-online proteins for RRM2B (4 products) 

     
    antibodies-online peptides for RRM2B

    RRM2B Antibody Products:

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    antibodies-online antibodies for RRM2B (59 products) 

    RRM2B Assay Products:

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    Cloud-Clone Corp. CLIAs for RRM2B
    Search eBioscience for ELISAs for RRM2B 
    antibodies-online kits for RRM2B (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR012348 RNR-rel
     IPR000358 RNR_small
     IPR009078 Ferritin-like_SF

    Graphical View of Domain Structure for InterPro Entry Q7LG56

    ProtoNet protein and cluster: Q7LG56

    1 Blocks protein domain: IPB000358 Ribonucleotide reductase

    UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56
    Similarity: Belongs to the ribonucleoside diphosphate reductase small chain family


    Find genes that share domains with RRM2B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIR2B_HUMAN, Q7LG56
    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
    Catalytic activity: 2'-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside
    diphosphate + thioredoxin
    Induction: In response to DNA damage in a wild-type p53/TP53-dependent manner

         Enzyme Number (IUBMB): EC 1.17.4.11 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004748ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with RRM2B           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RRM2B:
     Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rrm2b):
     adipose tissue  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  renal/urinary system  skeleton 

    Find genes that share phenotypes with RRM2B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rrm2btm1Ynak for RRM2B

       genOway: Develop your customized and physiologically relevant rodent model for RRM2B

    miRNA
    Products:
        
    miRTarBase miRNAs that target RRM2B:
    hsa-mir-142-3p (MIRT021612)

    Block miRNA regulation of human, mouse, rat RRM2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RRM2B (see all 26):
    hsa-miR-3149 hsa-miR-3607-3p hsa-miR-137 hsa-miR-146a hsa-miR-16-1* hsa-miR-548s hsa-miR-216b hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidRRM2B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat RRM2B

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): RRM2B (NM_015713)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRM2B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RIR2B_HUMAN, Q7LG56: Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with RRM2B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RRM2B About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    2p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.52
    pyrimidine deoxyribonucleotides biosynthesis from CTP0.00
    guanosine deoxyribonucleotides de novo biosynthesis0.52
    adenosine deoxyribonucleotides de novo biosynthesis0.00
    pyrimidine deoxyribonucleotides de novo biosynthesis0.00
    5purine nucleotide salvage
    purine nucleotide salvage0.78
    guanosine nucleotides de novo biosynthesis0.00
    purine nucleotides de novo biosynthesis0.78


    Find genes that share SuperPaths with RRM2B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RRM2B
        ATP/ITP metabolism

    Selected BioSystems Pathways for RRM2B (see all 11)
        DNA damage response
    purine nucleotides de novo biosynthesis
    Nucleotide Metabolism
    guanosine nucleotides de novo biosynthesis
    purine nucleotide salvage


    1 Reactome Pathway for RRM2B
        Synthesis and interconversion of nucleotide di- and triphosphates

    1 PharmGKB Pathway for RRM2B
        Gemcitabine Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for RRM2B):
        Purine metabolism
    Pyrimidine metabolism
    Glutathione metabolism
    Metabolic pathways
    p53 signaling pathway

    UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56
    Pathway: Genetic information processing; DNA replication

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RRM2B
    Interactions:

        GeneGlobe Interaction Network for RRM2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RRM2B (Q7LG563 ENSP000002518104) via UniProtKB, MINT, STRING, and/or I2D (see all 106)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046373, ENSP000002693054I2D: score=2 STRING: ENSP00000269305
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    RRM1P239213, ENSP000003007384I2D: score=2 STRING: ENSP00000300738
    RRM2P313503, ENSP000003029554I2D: score=1 STRING: ENSP00000302955
    ATMQ133153, ENSP000002786164I2D: score=1 STRING: ENSP00000278616
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0003014renal system process IEA--
    GO:0006264mitochondrial DNA replication IEA--
    GO:0006281DNA repair IEA--
    GO:0006979response to oxidative stress IEA--

    Find genes that share ontologies with RRM2B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RRM2B (RIR2B)

    Selected HMDB Compounds for RRM2B (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CDPCDP (see all 3)63-38-7--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    IronArmco iron (see all 19)7439-89-6--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    dADP2'-deoxyadenosine-5'-diphosphate (see all 3)2793-06-8--
    dCDP2'-Deoxycytidine 5'-diphosphate (see all 13)800-73-7--
    dGDP2'-deoxyguanosine-5'-diphosphate (see all 7)3493-09-2--

    1 DrugBank Compound for RRM2B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cladribine2-CdA (see all 5)4291-63-8targetinhibitor19576186 19715446 16316309 17852710 9923554

    8 Novoseek inferred chemical compound relationships for RRM2B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-aminopyridine-2-carboxaldehyde thiosemicarbazone 80.1 1 14729598 (1)
    hydroxyurea 49.5 2 14729598 (1), 17913703 (1)
    adriamycin 43 8 16872707 (3), 10716435 (2), 16236544 (1)
    thymidine 15.4 4 17913703 (2), 11920641 (1)
    cisplatin 12.6 2 15096505 (1), 15754039 (1)
    iron 10.8 5 14729598 (2), 17115699 (2)
    5fluorouracil 7.5 1 15890238 (1)
    oxygen 0 2 16488986 (1), 19082948 (1)

    2 PharmGKB related drug/compound annotations for RRM2B gene    About this table
    Drug/compound PharmGKB Annotation
    cladribineCA  
    cytarabineCA  



    Find genes that share compounds with RRM2B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RRM2B gene (3 alternative transcripts): 
    NM_001172477.1  NM_001172478.1  NM_015713.4  

    Unigene Cluster for RRM2B:

    Ribonucleotide reductase M2 B (TP53 inducible)
    Hs.512592  [show with all ESTs]
    Unigene Representative Sequence: AB036063
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251810(uc022azl.1 uc003yko.3 uc003ykn.3 uc010mbv.2 uc010mbw.1 uc010mbx.1 uc010mby.1)
    ENST00000522368 ENST00000395910 ENST00000519962 ENST00000519317 ENST00000395912
    ENST00000522394 ENST00000519125 ENST00000523957 ENST00000517517
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RRM2B (see all 26):
    hsa-miR-3149 hsa-miR-3607-3p hsa-miR-137 hsa-miR-146a hsa-miR-16-1* hsa-miR-548s hsa-miR-216b hsa-miR-340
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRM2B
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RRM2B
      QuantiTect SYBR Green Assays in human, mouse, rat RRM2B
      QuantiFast Probe-based Assays in human, mouse, rat RRM2B

    Additional mRNA sequence: 

    AB036063.1 AB163437.1 AB166669.1 AB166670.1 AB166671.1 AK001965.1 AK023605.1 AK304354.1 
    AL137348.1 BC042468.1 BC042948.2 BC108261.1 BC117496.1 BC130628.1 CR627376.1 

    4 DOTS entries:

    DT.112697  DT.99979498  DT.95161561  DT.95246808 

    Selected AceView cDNA sequences (see all 148):

    AA812196 BC042468 AA495950 BE327866 AW299283 AA766003 AW771144 AA765000 
    AL701047 BQ232409 BQ000357 BF111537 BQ574024 AI479238 BF056476 AI478132 
    AA768847 AA975375 AB166669 AI627448 BQ441857 BX411343 AI784085 AL705595 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RRM2B (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for RRM2B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RRM2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAGAATTT
    RRM2B Expression
    About this image


    RRM2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Lens
    RRM2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RRM2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512592

    UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RRM2B gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rrm2b1 , 5 ribonucleotide reductase M2 B (TP53 inducible)1, 5 89.15(n)1
    92.8(a)1
      15 (15.10 cM)5
    3829851  NM_199476.11  NP_955770.11 
     379239525 
    chicken
    (Gallus gallus)
    Aves RRM2B1 ribonucleotide reductase M2 B (TP53 inducible) 81.08(n)
    88.76(a)
      420253  XM_418364.4  XP_418364.2 
    lizard
    (Anolis carolinensis)
    Reptilia RRM2B6
    ribonucleotide reductase M2 B (TP53 inducible)
    89(a)
    1 ↔ 1
    4(14010501-14028404)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rrm2b1 ribonucleotide reductase M2 B (TP53 inducible) 77.05(n)
    84.57(a)
      100144925  NM_001126501.1  NP_001119973.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rrm2b1 ribonucleotide reductase M2 b 70.81(n)
    75.43(a)
      368909  NM_001007163.2  NP_001007164.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RnrS3 DNA replication
    ribonucleoside-diphosphate reductase
    73(a)   48D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea rnr-23 Ribonuclease-diphosphate reductase M2 69(a)
    (best of 2)
      III(4165314-4166687)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RNR26
    Ribonucleotide-diphosphate reductase (RNR), small ...
    54(a)
    1 → many
    X(392404-393603) YJL026W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RNR2A1 RNR2A 62.39(n)
    65.14(a)
      821937  NM_113261.3  NP_189000.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RRM2B gene
    RRM22  
    Selected SIMAP similar genes for RRM2B using alignment to 3 protein entries:     RIR2B_HUMAN (see all proteins) (see all similar genes):
    DKFZp686M05248    RRM2    C1orf143    EIF3G    pp12301    KIAA1651
    RPS13    NDC80    NLN    DYNC2LI1    ZNF799    IRF2
    TGM4    ARL6IP5    RHBG    VPS33A    MFSD12    MRPL45

    Find genes that share paralogs with RRM2B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RRM2B (see all 737)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1826141641,2,,4
    CMitochondrial DNA depletion syndrome 8A (MTDPS8A)4 --103502784(+) TGTTTC/GATCAA 6 I M mis10--------
    VAR_0462214
    Mitochondrial DNA depletion syndrome 8A (MTDPS8A)4--see VAR_0462212 I S mis40--------
    VAR_0462174
    Mitochondrial DNA depletion syndrome 8A (MTDPS8A)4--see VAR_0462172 W R mis40--------
    VAR_0462204
    Mitochondrial DNA depletion syndrome 8A (MTDPS8A)4--see VAR_0462202 E K mis40--------
    VAR_0651234
    Mitochondrial DNA depletion syndrome 8B (MTDPS8B)4--see VAR_0651232 R H mis40--------
    VAR_0462194
    Mitochondrial DNA depletion syndrome 8A (MTDPS8A)4--see VAR_0462192 E G mis40--------
    VAR_0462224
    Mitochondrial DNA depletion syndrome 8A (MTDPS8A)4--see VAR_0462222 C F mis40--------
    VAR_0651224
    Mitochondrial DNA depletion syndrome 8B (MTDPS8B)4--see VAR_0651222 R H mis40--------
    VAR_0256994
    Colorectal adenocarcinomas cell line4--see VAR_0256992 V L mis40--------
    VAR_0462244
    Mitochondrial DNA depletion syndrome 8A (MTDPS8A)4--see VAR_0462242 L V mis40--------

    HapMap Linkage Disequilibrium report for RRM2B (103216729 - 103251346 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RRM2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv7840n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): RRM2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RRM2B
    DNA2.0 Custom Variant and Variant Library Synthesis for RRM2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604712   
    OMIM disorders: 612075  613077  
    UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56
  • 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. 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. 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for RRM2B:    
    About MalaCards
    mitochondrial dna depletion syndrome    mitochondrial dna depletion syndrome 8b    chronic progressive external ophthalmoplegia    adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
    mitochondrial dna depletion syndrome 8a    progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5    kearns-sayre syndrome    rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy
    autosomal dominant progressive external ophthalmoplegia    mitochondrial dna depletion syndrome 1    ophthalmoplegia

    1 disease from the University of Copenhagen DISEASES database for RRM2B:
    Chronic progressive external ophthalmoplegia

    Find genes that share disorders with RRM2B           About GenesLikeMe

    10 Novoseek inferred disease relationships for RRM2B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon adenocarcinoma 38.5 3 17085643 (2), 17311703 (1)
    carcinoma squamous cell 28.8 9 16778101 (4), 12565178 (2), 15655547 (1), 17671702 (1) (see all 5)
    cancer 28.3 29 18804405 (6), 17311703 (3), 15890238 (3), 17085643 (2) (see all 11)
    colon cancer 17.9 2 16127747 (1), 17311703 (1)
    primary tumor 17.3 5 11920641 (2), 16778101 (1), 17671702 (1)
    tumors 12.1 19 16778101 (3), 16619496 (3), 11920641 (3), 12565178 (2) (see all 7)
    nsclc 8.1 8 16619496 (4)
    dysplasia 5.46 5 12565178 (4), 16206288 (1)
    metastasis 2.21 12 17085643 (4), 17311703 (3), 16778101 (2), 18804405 (2) (see all 5)
    carcinoma 0 3 11920641 (2), 16206288 (1)

    Genetic Association Database (GAD): RRM2B
    Human Genome Epidemiology (HuGE) Navigator: RRM2B (3 documents)

    Export disorders for RRM2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RRM2B gene, integrated from 10 sources (see all 93):
    (articles sorted by number of sources associating them with RRM2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. (PubMed id 17486094)1, 2, 3, 9 Bourdon A.... Roetig A. (Nat. Genet. 2007)
    2. A ribonucleotide reductase gene involved in a p53-dependent cell- cycle checkpoint for DNA damage. (PubMed id 10716435)1, 2, 3, 9 Tanaka H.... Nakamura Y. (Nature 2000)
    3. Wild-type p53 regulates human ribonucleotide reductase by protein- protein interaction with p53R2 as well as hRRM2 subunits. (PubMed id 12615712)1, 2, 9 Xue L.... Yen Y. (Cancer Res. 2003)
    4. The human ribonucleotide reductase subunit hRRM2 complements p53R2 in response to UV-induced DNA repair in cells with mutant p53. (PubMed id 14583450)1, 2, 9 Zhou B.... Yen Y. (Cancer Res. 2003)
    5. Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits. (PubMed id 16376858)1, 2, 9 Qiu W.... Yen Y. (Biochem. Biophys. Res. Commun. 2006)
    6. Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls. (PubMed id 16127747)1, 4, 9 Deng Z.L....Wargovich M.J. (World J. Gastroenterol. 2005)
    7. A ribonucleotide reductase gene is a transcriptional target of p53 and p73. (PubMed id 10980602)1, 3, 9 Nakano K....Vousden K.H. (Oncogene 2000)
    8. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. (PubMed id 19664747)1, 2, 9 Tyynismaa H....Suomalainen A. (Am. J. Hum. Genet. 2009)
    9. Mammalian p53R2 protein forms an active ribonucleotide reductase in vitro with the R1 protein, which is expressed both in resting cells in response to DNA damage and in proliferating cells. (PubMed id 11517226)1, 2, 9 Guittet O.... Thelander L. (J. Biol. Chem. 2001)
    10. p53R2-dependent pathway for DNA synthesis in a p53-regulated cell cycle checkpoint. (PubMed id 11719458)1, 2, 9 Yamaguchi T.... Arakawa H. (Cancer Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50484 HGNC: 17296 AceView: RRM2B Ensembl:ENSG00000048392 euGenes: HUgn50484
    ECgene: RRM2B Kegg: 50484 H-InvDB: RRM2B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RRM2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RRM2B Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rrm2b/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RRM2B gene:
    Search GeneIP for patents involving RRM2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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