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... See more...

Aliases for RRM2B Gene

Aliases for RRM2B Gene

  • Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B 2 3 5
  • P53R2 2 3 4 4
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2-Like Protein 3 4
  • Ribonucleoside-Diphosphate Reductase Subunit M2 B 3 4
  • Ribonucleotide Reductase M2 B (TP53 Inducible) 2 3
  • TP53-Inducible Ribonucleotide Reductase M2 B 3 4
  • EC 1.17.4.1 4 51
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2 Short Form Beta 3
  • P53-Inducible Ribonucleotide Reductase Small Subunit 2 Homolog 3
  • MTDPS8A 3
  • MTDPS8B 3
  • RRM2B 5

External Ids for RRM2B Gene

Previous GeneCards Identifiers for RRM2B Gene

  • GC08M102222
  • 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 Regulatory TP53 Inducible Subunit M2B) 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 ATP/ITP metabolism and superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RRM2B Gene

Genomics for RRM2B Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around RRM2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RRM2B

Top Transcription factor binding sites by QIAGEN in the RRM2B gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • CUTL1
  • Elk-1
  • FAC1
  • GATA-1

Genomic Locations for RRM2B Gene

Genomic Locations for RRM2B Gene
chr8:102,204,501-102,238,961
(GRCh38/hg38)
Size:
34,461 bases
Orientation:
Minus strand
chr8:103,216,729-103,251,346
(GRCh37/hg19)
Size:
34,618 bases
Orientation:
Minus strand

Genomic View for RRM2B Gene

Genes around RRM2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRM2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAW91842.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for RRM2B Gene

    Alternative splice isoforms for RRM2B Gene

neXtProt entry for RRM2B Gene

Selected DME Specific Peptides for RRM2B Gene

Q7LG56:
  • EARCFYGF
  • HILAFFA
  • RFVIFPI
  • EEVDLSKD
  • KPSEERVREII
  • MPGLTFSNELI
  • DIWKMYK
  • GKTNFFEK
  • LFNAIET
  • LAFFAASDGIV
  • HSEMYSLLIDTY
  • YIEFVAD
  • KKADWALRWI
  • SNELISRDEGLH
  • NPFDFMENISL
  • SDGIVNENL
  • AFAAVEG
  • FLTEALP

Post-translational modifications for RRM2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for RRM2B Gene

Gene Families for RRM2B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RRM2B Gene

InterPro:
Blocks:
  • Ribonucleotide reductase
ProtoNet:

Suggested Antigen Peptide Sequences for RRM2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52060, highly similar to Ribonucleoside-diphosphate reductase M2 subunit B (EC 1.17.4.1) (B4E2N4_HUMAN)
  • p53-inducible ribonucleotide reductase small subunit 2-like protein (RIR2B_HUMAN)

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

Function for RRM2B Gene

Molecular function for RRM2B Gene

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 CatalyticActivity:
Reaction=[thioredoxin]-disulfide + a 2'-deoxyribonucleoside 5'-diphosphate + H2O = [thioredoxin]-dithiol + a ribonucleoside 5'-diphosphate; Xref=Rhea:RHEA:23252, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57930, ChEBI:CHEBI:73316; EC=1.17.4.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10014, ECO:0000269|PubMed:16376858};.
UniProtKB/Swiss-Prot Induction:
In response to DNA damage in a wild-type p53/TP53-dependent manner.

Enzyme Numbers (IUBMB) for RRM2B Gene

Phenotypes From GWAS Catalog 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,IBA 21873635
GO:0005515 protein binding IPI 19015526
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical 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

Human Phenotype Ontology for RRM2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RRM2B Gene

MGI Knock Outs for RRM2B:

Animal Model Products

  • Taconic Biosciences Mouse Models for RRM2B

CRISPR Products

miRNA for RRM2B Gene

miRTarBase miRNAs that target RRM2B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRM2B

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RRM2B gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RRM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
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

Activates:
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:0006260 DNA replication IEA --
GO:0006264 mitochondrial DNA replication IEA --
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with RRM2B: view

Drugs & Compounds for RRM2B Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 105
Gemcitabine Approved Pharma inhibitor, Biomarker Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
Iron Approved, Experimental Pharma 1560
Cytarabine Approved, Experimental, Investigational Pharma 1335
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 167

(9) Additional Compounds for RRM2B Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
dcdp
  • 2'-Deoxycytidine 5'-diphosphate
  • 2'-Deoxycytidine diphosphate
  • D-1beta-Ribofuranosylcytosine diphosphate
  • Deoxycytidine diphosphate
  • 2'-Deoxycytidine 5'-diphosphoric acid
800-73-7
dGDP
  • 2'-Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
  • 2'-Deoxyguanosine 5'-diphosphoric acid
  • Deoxyguanosine diphosphoric acid
  • 2'-Deoxy-GDP
3493-09-2
dudp
  • 2'-Deoxyuridine 5'-diphosphate
  • 2'-Deoxyuridine 5'-diphosphoric acid
  • 2'-Deoxyuridine-5'-diphosphate
  • Deoxyuridine-diphosphate
4208-67-7

(3) ApexBio Compounds for RRM2B Gene

Compound Action Cas Number
Clofarabine Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 123318-82-1
Fludarabine Phosphate (Fludara) Inhibits STAT1 activation and DNA synthesis 75607-67-9
Gemcitabine 95058-81-4
genes like me logo Genes that share compounds with RRM2B: view

Drug Products

Transcripts for RRM2B Gene

mRNA/cDNA for RRM2B Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRM2B

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

Expression for RRM2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for RRM2B Gene



Protein tissue co-expression partners for RRM2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RRM2B

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.

Evidence on tissue expression from TISSUES for RRM2B Gene

  • Nervous system(4.7)
  • Eye(4.4)
  • Muscle(3.1)
  • Liver(2.7)
  • Kidney(2.6)
  • Heart(2.5)
  • Lung(2.5)
  • Skin(2.3)
  • Intestine(2.3)
  • Thyroid gland(2.1)
  • Blood(2.1)
  • Lymph node(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RRM2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 30 31
  • 97.99 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RRM2B 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RRM2B 30 31
  • 92.03 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RRM2B 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rrm2b 30
  • 89.24 (n)
Mouse
(Mus musculus)
Mammalia Rrm2b 30 17 31
  • 89.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RRM2B 30 31
  • 88.21 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RRM2B 30 31
  • 81.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RRM2B 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rrm2b 30
  • 77.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii rrm2b 30 31
  • 70.81 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta RnrS 31 32
  • 64 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rnr-2 31 32
  • 59 (a)
ManyToMany
F58F9.1 31
  • 12 (a)
ManyToMany
F19G12.2 31 32
  • 10 (a)
ManyToMany
Y57G11C.21 31
  • 9 (a)
ManyToMany
K09F6.5 31
  • 6 (a)
ManyToMany
F54H12.2 31
  • 5 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNR2 31
  • 54 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RNR2A 30
  • 62.39 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2425 31
  • 65 (a)
OneToMany
Species where no ortholog for RRM2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RRM2B: view image

Paralogs for RRM2B Gene

Variants for RRM2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RRM2B Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
668665 Likely Benign: not provided 102,225,026(-) G/A INTRON_VARIANT
669142 Likely Benign: not provided 102,218,631(-) G/A INTRON_VARIANT
669565 Benign: not provided 102,218,533(-) C/T INTRON_VARIANT
670090 Likely Benign: not provided 102,218,965(-) G/A INTRON_VARIANT
671674 Benign: not provided 102,231,993(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RRM2B Gene

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

Variant ID Type Subtype PubMed ID
esv3572925 CNV loss 25503493
esv3576598 CNV gain 25503493
esv3618218 CNV gain 21293372
esv3618219 CNV loss 21293372
nsv1020359 CNV gain 25217958
nsv1025935 CNV gain 25217958

Variation tolerance for RRM2B Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRM2B Gene

Human Gene Mutation Database (HGMD)
RRM2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRM2B

SNP Genotyping and Copy Number Assay Products

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

Disorders for RRM2B Gene

MalaCards: The human disease database

(28) MalaCards diseases for RRM2B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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.

Additional Disease Information for RRM2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 … Rötig A (Nature genetics 2007) 2 3 4 23
  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 3 4 23
  3. 2.6 A X-ray crystal structure of human p53R2, a p53-inducible ribonucleotide reductase . (PMID: 19728742) Smith P … Yen Y (Biochemistry 2009) 3 4 23
  4. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. (PMID: 19664747) Tyynismaa H … Suomalainen A (American journal of human genetics 2009) 3 4 23
  5. Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits. (PMID: 16376858) Qiu W … Yen Y (Biochemical and biophysical research communications 2006) 3 4 23

Products for RRM2B Gene

  • Signalway Proteins for RRM2B

Sources for RRM2B Gene