RRM2B Gene
protein-coding GIFtS: 68
GCID: GC08M103216
|
|
ribonucleotide reductase M2 B (TP53 inducible)
| |
Aliases
for RRM2B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ribonucleotide Reductase M2 B (TP53 Inducible)1 2 | | MTDPS8A2 5 | | P53R22 3 5 | | 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 | | PEOA55 |
Export aliases for RRM2B gene to outside databasesPrevious GC identifers: GC08M102222 GC08M103284 GC08M102885 GC08M103173 GC08M103285 GC08M098415 |
Summaries
for RRM2B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RRM2B:
This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzesthe conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction isnecessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNAdepletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinalencephalopathy. Alternatively spliced transcript variants have been described.(provided by RefSeq, Feb 2010)
UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56Function: Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Suppliesdeoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical centerrequired for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both inresting and proliferating cells in response to DNA damage
Gene Wiki entry for RRM2B
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RRM2B gene promoter:
AREB6 Elk-1 FAC1 AML1a CUTL1 C/EBPalpha GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RRM2B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 8q23.1RRM2B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for RRM2B gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 DNAdamage
Subcellular location: Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage
3 PDB 3D structures from  and Proteopedia  for RRM2B:2VUX (3D)
3HF1 (3D)
4DJN (3D)
Secondary accessions: Q17R22 Q75PQ6 Q75PQ7 Q75PY8 Q75PY9 Q86YE3 Q9NPD6 Q9NTD8 Q9NUW3Alternative splicing: 5 isoforms: Q7LG56-1 Q7LG56-2 Q7LG56-3 Q7LG56-4 Q7LG56-5 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)Explore the universe of human proteins at neXtProt for RRM2B: NX_Q7LG56
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7LG56
4/18 DME Specific Peptides for RRM2B (Q7LG56) (see all 18)
RRM2B Protein expression data from MOPED and PaxDb: About this image 
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
Human Recombinant Protein Products for RRM2B:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
RRM2B for ontologies About GeneDecksing
RRM2B Antibody Products:
Assay Products for RRM2B: |
Protein
Domains /
Families
for RRM2B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RRM2B for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7LG56ProtoNet protein and cluster: Q7LG56 1 Blocks protein family: IPB000358 Ribonucleotide reductase
UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56Similarity: Belongs to the ribonucleoside diphosphate reductase small chain family |
Function
for RRM2B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: RIR2B_HUMAN, Q7LG56Function: Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Suppliesdeoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical centerrequired for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both inresting and proliferating cells in response to DNA damageCatalytic activity: 2'-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside diphosphate +thioredoxinInduction: 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 (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004748 | ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor |
IEA | -- | | GO:0046914 | transition metal ion binding |
IEA | -- |
RRM2B for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for RRM2B:
15 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Rrm2b):
RRM2B for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Rrm2btm1Ynak for RRM2B
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RRM2B (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RRM2B (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): RRM2B (NM_015713) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RRM2B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRM2B |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRM2B |
|
Pathways & Interactions
for RRM2B gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism | | | 2 | p53 signaling pathway | | | 3 | Purine metabolism | | | 4 | ATP/ITP metabolism | | | 5 | Synthesis and interconversion of nucleotide di- and triphosphates | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for RRM2B
1  GeneGo (Thomson Reuters) Pathway for RRM2B
4  BioSystems Pathways for RRM2B
3 
Reactome Pathways for RRM2B
1  PharmGKB Pathway for RRM2B
5 
Kegg Pathways (Kegg details for RRM2B):
UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56Pathway: Genetic information processing; DNA replication
RRM2B for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RRM2B
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/58 Interacting proteins for RRM2B (Q7LG563 ENSP000002518104) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table
RRM2B for ontologies About GeneDecksing
|
Drugs & Compounds
for RRM2B gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
RRM2B for compounds About GeneDecksing
 Browse Tocris compounds for RRM2B
10/11 HMDB Compounds for RRM2B (see all 11) About this table
1 DrugBank Compound for RRM2B About this table
8 Novoseek chemical compound relationships for RRM2B gene About this table
Search CenterWatch for drugs/clinical trials and news about RRM2B / RIR2B
|
Transcripts
for RRM2B gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: AB03606310 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RRM2B (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RRM2B (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): RRM2B (NM_015713) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RRM2B | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRM2B |
Additional cDNA 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 24/148 AceView cDNA sequences (see all 148): BE327866 AI479238 AB166671 BM454529 BF056476 BQ000357 BQ574024 BC042468 AK023605 BF111537 AB163438 BU170979 AI683384 BQ232409 BQ441857 BX411343 AA766003 CR617553 AA768847 CD676864 AL705595 BU737569 AI935884 AW299283
GeneLoc Exon Structure
5/7 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
|
Expression
for RRM2B gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RRM2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACAGAATTT
About this image
See RRM2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RRM2B
SOURCE GeneReport for Unigene cluster: Hs.512592
UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56Tissue specificity: Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed inepithelial dysplasias and squamous cell carcinoma
SABiosciences Custom PCR Arrays for RRM2B
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RRM2B
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RRM2B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RRM2B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RRM2B | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRM2B |
Orthologs
for RRM2B gene
(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)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for RRM2B gene from 9/29 species (see all 29) 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 |
90.6(n)1
93.45(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) |
82.11(n)
90.91(a) |
|
420253 XM_418364.3 XP_418364.2 |
lizard
(Anolis carolinensis) |
Reptilia |
RRM2B6 |
-- |
88(a) |
1 ↔ 1 |
4(14013477-14024779) |
zebrafish
(Danio rerio) |
Actinopterygii |
rrm2b1 |
ribonucleotide reductase M2 b |
72.26(n)
77.25(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) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
TSO26RNR2A6 |
Ribonucleoside-diphosphate reductase small chain C...Ribonucleoside-diphosphate reductase small chain A... |
65(a)62(a) |
many ↔ manymany ↔ many |
3(9979866-9981295) 3(8460045-8462815) |
rice
(Oryza sativa) |
Liliopsida |
---- |
ribonucleoside-diphosphate reductase small chain, ...ribonucleoside-diphosphate reductase small chain, ... |
64(a)63(a) |
many ↔ manymany ↔ many |
6(8229483-8231133) 6(1469866-1471142) |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
nrdB6nrdF6 |
ribonucleoside-diphosphate reductase 1, beta subun...ribonucleoside-diphosphate reductase 2, beta subun... |
18(a)17(a) |
possible orthologpossible ortholog |
Chromosome(2345406-2346536) Chromosome(2801524-2802483) |
ENSEMBL Gene Tree for RRM2B (if available)
TreeFam Gene Tree for RRM2B (if available) |
Paralogs
for RRM2B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RRM2B gene
- RRM22
18/79 SIMAP similar genes for RRM2B using alignment to 4 protein entries: RIR2B_HUMAN (see all proteins)
(see all similar genes):DKFZp686M05248 RRM2 C1orf143 EIF3G pp12301 KIAA1651
RPS13 NDC80 NLN DYNC2LI1 IRF2 TGM4
ARL6IP5 RHBG KIAA0101 MFSD12 MRPL45 ZNF211
RRM2B for paralogs About GeneDecksing
|
Genomic Variants
for RRM2B gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RRM2B (103216729 - 103251346 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RRM2B: --
Human Gene Mutation Database (HGMD): RRM2B
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RRM2B |
|
Disorders
/ Diseases
for RRM2B gene
(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.)
About This Section
|
RRM2B for disorders About GeneDecksing
OMIM gene information: 604712
OMIM disorders: 612075 613077
UniProtKB/Swiss-Prot: RIR2B_HUMAN, Q7LG56
Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]. Adisorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurologicaldeterioration, respiratory distress, lactic acidosis, and renal tubulopathy Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075]. Adisease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility,cachexia, peripheral neuropathy Defects in RRM2B are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletionsautosomal dominant type 5 (PEOA5) [MIM:613077]. A disorder characterized by progressive weakness of ocular muscles andlevator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, whichpredominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscleweakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias areassociated 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
20/32  diseases for RRM2B (see all 32): About MalaCardsautosomal dominant progressive external ophthalmoplegia mitochondrial dna depletion syndrome progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 ophthalmoplegia
chronic progressive external ophthalmoplegia lactic acidosis axonal neuropathy esophageal squamous cell carcinoma
squamous cell carcinoma transitional cell carcinoma peripheral neuropathy ulcerative colitis
neuropathy ptosis myelodysplastic syndrome colon cancer
hypogonadism hypotonia oral cancer carcinoma
1 disease from the University of Copenhagen DISEASES database for RRM2B:Chronic progressive external ophthalmoplegia 10 Novoseek 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
|
Publications
for RRM2B gene (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)
About This Section
|
PubMed articles for RRM2B gene, integrated from 9 sources (see all 87):
(articles sorted by number of sources associating them with RRM2B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2007)
- 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. (2000)
- 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. (2003)
- 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. (2003)
- 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. (2006)
- 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. (2005)
- A ribonucleotide reductase gene is a transcriptional target of p53 and p73. (PubMed id 10980602)1, 3, 9 Nakano K....Vousden K.H. (2000)
- 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. (2009)
- 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. (2001)
- p53R2-dependent pathway for DNA synthesis in a p53-regulated cell cycle checkpoint. (PubMed id 11719458)1, 2, 9 Yamaguchi T.... Arakawa H. (2001)
|
External Searches for RRM2B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RRM2B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing RRM2B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RRM2B gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| 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
|
Products
for RRM2B gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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