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Gene

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Summary

Cytogenetic location
8q22.3
Coordinates
Chromosome 8: 102,204,502–102,238,961 (GRCh38)
Exons
9 exons across 34.5 kb
Protein
351 amino acids
Also known as
p53R2
MANE Select transcript
ENST00000251810.8NM_015713.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

      Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

How RRM2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where RRM2B sits. RRM2B and 4 genes near it on chromosome 8, from 101,721,732 to 102,721,731.Chromosome 88q22.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3101.8 Mb102 Mb102.2 Mb102.4 Mb102.6 MbNCALD: 101,686,542–102,124,907, reverse strandNCALDRRM2B: 102,204,502–102,238,961, reverse strandRRM2BUBR5: 102,250,605–102,412,883, reverse strandUBR5ODF1: 102,551,589–102,561,018, forward strandODF1KLF10: 102,648,781–102,655,729, reverse strandKLF10Diagram of RRM2B: 9 exons on the reverse strand of chromosome 8Exon 9: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 9 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 9: 102,204,502–102,208,285, 3,784 basesExon 8: 102,212,776–102,212,889, 114 basesExon 7: 102,214,054–102,214,158, 105 basesExon 6: 102,218,814–102,218,947, 134 basesExon 5: 102,224,046–102,224,140, 95 basesExon 4: 102,224,885–102,225,018, 134 basesExon 3: 102,225,918–102,226,034, 117 basesExon 2: 102,232,149–102,232,304, 156 basesExon 1: 102,238,827–102,238,961, 135 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.8 kb of the gene's 34.5 kb; 1,056 of those bases code for the protein.

How a genome test reads RRM2B

34

positions in RRM2B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 34.5 kb of RRM2B, introns included, not only the 4.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RRM2B gene: ribonucleotide reductase regulatory TP53 inducible subunit M2B. Retrieved 16 October 2026, from https://dantelabs.com/genes/rrm2b

Vancouver

Dante Labs. RRM2B gene: ribonucleotide reductase regulatory TP53 inducible subunit M2B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rrm2b

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