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RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B [ Homo sapiens (human) ]

Gene ID: 50484, updated on 17-Mar-2024

Summary

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Official Symbol
RRM2Bprovided by HGNC
Official Full Name
ribonucleotide reductase regulatory TP53 inducible subunit M2Bprovided by HGNC
Primary source
HGNC:HGNC:17296
See related
Ensembl:ENSG00000048392 MIM:604712; AllianceGenome:HGNC:17296
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P53R2; RCDFRD; MTDPS8A; MTDPS8B
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 25.9), adrenal (RPKM 13.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
8q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (102204501..102238961, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (103330401..103364861, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (103216729..103251189, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103144879-103145380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103145381-103145880 Neighboring gene microRNA 5680 Neighboring gene ATP synthase subunit ATP5MJ, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27744 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:103203063-103203680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:103240735-103241235 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:103243938-103244157 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:103248510-103249709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27748 Neighboring gene SUMO2 pseudogene 19 Neighboring gene UBR5 divergent transcript Neighboring gene ubiquitin protein ligase E3 component n-recognin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:103329370-103329870 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:103335870-103336617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27751 Neighboring gene uncharacterized LOC124902086

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study. Ait El Cadi C, et al. Biomed Res Int, 2020. PMID 32775440, Free PMC Article
  2. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Keshavan N, et al. Genet Med, 2020 Jan. PMID 31462754
  3. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. Penque BA, et al. Eur J Med Genet, 2019 Nov. PMID 30439532
  4. Overexpression of p53R2 is associated with poor prognosis in lung sarcomatoid carcinoma. Chen J, et al. BMC Cancer, 2017 Dec 15. PMID 29246119, Free PMC Article
  5. Phenotypic and Genotypic Heterogeneity of RRM2B Variants. Finsterer J, et al. Neuropediatrics, 2018 Aug. PMID 29241262

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.
    Title: Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.
  2. Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
    Title: Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
  3. Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.
    Title: Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.
  4. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
    Title: Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
  5. The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.
    Title: The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.
  6. Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.
    Title: Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.
  7. Infantile-onset mitochondrial DNA depletion syndrome (MDDS) due to RRM2B deficiency is a severe disorder with characteristic clinical features and extremely poor prognosis. The biallelic truncating variants predict the worst survival outcome.
    Title: The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
  8. This report expands our knowledge of potential pathogenic RRM2B mutations as well as our understanding of the molecular function of p53R2 and its role in the pathogenesis of mitochondrial DNA depletion.
    Title: A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
  9. Review showed marked variety of clinical manifestations and marked variety of age at onset. Organs predominantly affected in RRM2B mutation carriers are the skeletal muscle, the brain, and the kidneys. Additionally affected may be the eyes, ears, endocrine organs, heart, gastro-intestinal tract, bone marrow, or the peripheral nerves. Phenotype and genotype in RRM2B mutation carriers are more widespread than anticipated.
    Title: Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
  10. Our study indicates that the cochlear CHI is a phenotypic feature of the RRM2B and SERAC1 related defects.
    Title: Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of ribonucleotide reductase M2 B (RRM2B) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC42116, MGC102856, DKFZp686M05248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in 2'-deoxyribonucleotide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA synthesis involved in DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in deoxyribonucleoside triphosphate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in deoxyribonucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of G0 to G1 transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in renal system process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to amine IEA
Inferred from Electronic Annotation
more info
  
involved_in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in ribonucleoside diphosphate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of ribonucleoside-diphosphate reductase complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
ribonucleoside-diphosphate reductase subunit M2 B
Names
TP53-inducible ribonucleotide reductase M2 B
p53-inducible ribonucleotide reductase small subunit 2 homolog
p53-inducible ribonucleotide reductase small subunit 2 short form beta
p53-inducible ribonucleotide reductase small subunit 2-like protein
ribonucleotide reductase M2 B (TP53 inducible)
NP_001165948.1
NP_001165949.1
NP_056528.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016617.1 RefSeqGene

    Range
    5001..39618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_788

mRNA and Protein(s)

  1. NM_001172477.1 → NP_001165948.1  ribonucleoside-diphosphate reductase subunit M2 B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK023605, AK304354, BC108261, DC308409
    UniProtKB/TrEMBL
    H0YAV1
    Related
    ENSP00000428115.1, ENST00000522368.5
    Conserved Domains (1) summary
    cl00264
    Location:104 → 423
    Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins

  2. NM_001172478.2 → NP_001165949.1  ribonucleoside-diphosphate reductase subunit M2 B isoform 3

    See identical proteins and their annotated locations for NP_001165949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AB036063, AK023605, BC108261
    Consensus CDS
    CCDS55267.1
    UniProtKB/TrEMBL
    Q6AI41
    Related
    ENSP00000379248.2, ENST00000395912.6
    Conserved Domains (1) summary
    cl00264
    Location:15 → 299
    Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins

  3. NM_015713.5 → NP_056528.2  ribonucleoside-diphosphate reductase subunit M2 B isoform 1

    See identical proteins and their annotated locations for NP_056528.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AB036063, AK023605, BC108261
    Consensus CDS
    CCDS34932.1
    UniProtKB/Swiss-Prot
    B4E2N4, Q17R22, Q75PQ6, Q75PQ7, Q75PY8, Q75PY9, Q7LG56, Q86YE3, Q9NPD6, Q9NTD8, Q9NUW3
    UniProtKB/TrEMBL
    Q6AI41
    Related
    ENSP00000251810.3, ENST00000251810.8
    Conserved Domains (1) summary
    cl00264
    Location:32 → 351
    Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    102204501..102238961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    103330401..103364861 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7LG56.1 GenPept UniProtKB/Swiss-Prot:Q7LG56

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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