RRM2B
Chr 8ARADribonucleotide reductase regulatory TP53 inducible subunit M2B
Also known as: MTDPS8A, MTDPS8B, P53R2, RCDFRD
The protein encodes the small subunit of ribonucleotide reductase, which catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates necessary for DNA synthesis. Mutations cause mitochondrial DNA depletion syndromes (encephalomyopathic type with renal tubulopathy and MNGIE type) and rod-cone dystrophy with sensorineural deafness and Fanconi-type renal dysfunction through autosomal recessive inheritance, or progressive external ophthalmoplegia with mitochondrial DNA deletions through autosomal dominant inheritance. The pathogenic mechanism involves dominant-negative effects disrupting mitochondrial DNA maintenance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RRM2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools