RRM2B Chromosome 8
Ribonucleotide reductase regulatory TP53 inducible subunit M2B
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What This Gene Does
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]
Gene Info
Gene Group
Ribonucleotide reductase subunits
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000048392
Associated Conditions (15)
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
RRM2B-related disorder
Rod-cone dystrophy
sensorineural deafness
and Fanconi-type renal dysfunction
Sensorineural hearing loss disorder
Adult Fanconi syndrome
RRM2B-related mitochondrial disease
Mitochondrial DNA depletion syndrome 8B (MNGIE type)
Idiopathic camptocormia
Severe lactic acidosis
Mitochondrial disease
Ovarian serous cystadenocarcinoma
Key Variants
RS113860402
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a
Health Risk
RS1435623358
Conflicting classifications of pathogenicity
RRM2B-related disorder, RRM2B-related disorder
Health Risk
RS1441534206
Conflicting classifications of pathogenicity
Health Risk
RS147315735
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a
Health Risk
RS1810682433
Conflicting classifications of pathogenicity
Rod-cone dystrophy, Sensorineural hearing loss disorder, Adult Fanconi syndrome
Health Risk
RS189278573
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Health Risk
RS190474682
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Health Risk
RS200273673
Conflicting classifications of pathogenicity
RRM2B-related mitochondrial disease, RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a
Health Risk
RS200301242
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a
Health Risk
RS200373694
Conflicting classifications of pathogenicity
RRM2B-related disorder, Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy
Health Risk
RS201028777
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness
Health Risk
RS201440849
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113860402 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a |
| RS1435623358 | Health Risk | Conflicting classifications of pathogenicity | RRM2B-related disorder, RRM2B-related disorder |
| RS1441534206 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147315735 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a |
| RS1810682433 | Health Risk | Conflicting classifications of pathogenicity | Rod-cone dystrophy, Sensorineural hearing loss disorder, Adult Fanconi syndrome |
| RS189278573 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS190474682 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS200273673 | Health Risk | Conflicting classifications of pathogenicity | RRM2B-related mitochondrial disease, RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a |
| RS200301242 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a |
| RS200373694 | Health Risk | Conflicting classifications of pathogenicity | RRM2B-related disorder, Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy |
| RS201028777 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness |
| RS201440849 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS202172163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2132549396 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS267607025 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8B (MNGIE type), RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a |
| RS29000285 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a |
| RS372991229 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS374844049 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS377736828 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS515726184 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease, Idiopathic camptocormia |
| RS515726189 | Health Risk | Conflicting classifications of pathogenicity | RRM2B-related mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS572671956 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS573435546 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS758091261 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness |
| RS765953819 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a |
| RS771845744 | Health Risk | Conflicting classifications of pathogenicity | RRM2B-related disorder, RRM2B-related disorder |
| RS772913758 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS773635687 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776184830 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS863224193 | Health Risk | Conflicting classifications of pathogenicity | Severe lactic acidosis, Mitochondrial DNA depletion syndrome 8a, Severe lactic acidosis |
| RS1167718213 | Health Risk | Likely pathogenic | — |
| RS1554610191 | Health Risk | Likely pathogenic | — |
| RS1587186073 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS1811046695 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS1811166166 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS182614164 | Health Risk | Likely pathogenic | RRM2B-related mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS2132555188 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness |
| RS2488845552 | Health Risk | Likely pathogenic | — |
| RS2488859555 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS2488859672 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS2488862395 | Health Risk | Likely pathogenic | — |
| RS2488868734 | Health Risk | Likely pathogenic | — |
| RS2488868897 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS515726183 | Health Risk | Likely pathogenic | — |
| RS515726186 | Health Risk | Likely pathogenic | RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy |
| RS863224914 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a |
| RS1217022955 | Health Risk | Pathogenic | — |
| RS121918307 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a |
| RS121918308 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a |
| RS121918309 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a |