Identity
HGNC
LOCATION
8q22.3
LOCUSID
ALIAS
MTDPS8A,MTDPS8B,P53R2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 50484
MIM: 604712
HGNC: 17296
Ensembl: ENSG00000048392
Variants:
dbSNP: 50484
ClinVar: 50484
TCGA: ENSG00000048392
COSMIC: RRM2B
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444760 | Leukemia, Myeloid, Acute | Disease | ClinicalAnnotation | associated | PD | 24024897 | |
| PA449027 | cladribine | Chemical | ClinicalAnnotation | associated | PD | 24024897 | |
| PA449177 | cytarabine | Chemical | ClinicalAnnotation | associated | PD | 24024897 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36882565 | 2023 | Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse. | 2 |
| 36959467 | 2023 | Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern. | 1 |
| 37964013 | 2023 | Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome. | 0 |
| 36882565 | 2023 | Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse. | 2 |
| 36959467 | 2023 | Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern. | 1 |
| 37964013 | 2023 | Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome. | 0 |
| 31462754 | 2020 | The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. | 7 |
| 32161153 | 2020 | Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. | 15 |
| 32775440 | 2020 | Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study. | 3 |
| 32931159 | 2020 | The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation. | 3 |
| 31462754 | 2020 | The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. | 7 |
| 32161153 | 2020 | Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. | 15 |
| 32775440 | 2020 | Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study. | 3 |
| 32931159 | 2020 | The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation. | 3 |
| 30439532 | 2019 | A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. | 4 |
Citation
Dessen P
RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42176/rrm2b
