RRM2B - ribonucleotide reductase regulatory TP53 inducible subunit M2B Gene
Also Known as P53R2; RCDFRD; MTDPS8A; MTDPS8B
Species: Homo sapiens
About RRM2B
This gene has 10 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 25.9), adrenal (RPKM 13.2) and 25 other tissues.
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]
RRM2B Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001172477.1 | NP_001165948.1 | ribonucleoside-diphosphate reductase subunit M2 B isoform 2 |
| NM_001172478.2 | NP_001165949.1 | ribonucleoside-diphosphate reductase subunit M2 B isoform 3 |
| NM_015713.5 | NP_056528.2 | ribonucleoside-diphosphate reductase subunit M2 B isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19015526 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in 2'-deoxyribonucleotide biosynthetic process |
IDA
IDA: Inferred from direct assay
|
16376858 | GOA |
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
11719458 | GOA |
| involved in mitochondrial DNA replication |
IMP
IMP: Inferred from mutant phenotype
|
17486094 | GOA |
| involved in positive regulation of G0 to G1 transition |
IDA
IDA: Inferred from direct assay
|
11517226 | GOA |
| involved in positive regulation of G2/M transition of mitotic cell cycle |
IDA
IDA: Inferred from direct assay
|
10716435 | GOA |
| involved in ribonucleoside diphosphate metabolic process |
IDA
IDA: Inferred from direct assay
|
16376858 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
18997010 | GOA |
RRM2B Protein Structure
Ribonuc_red_sm: Ribonucleotide reductase, small chain (33 - 313)
- 0
- 100
- 200
- 300
- 351 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ribonucleoside-diphosphate reductase subunit M2 B |
|
RRM2B Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
RRM2B | Q7LG56 | RNF41 | Homo sapiens | Q9H4P4 | 25910212 | |
|
Intra
|
RRM2B | Q7LG56 | RNF41 | Homo sapiens | Q9H4P4 | 25910212 | |
|
Intra
|
RRM2B | Q7LG56 | RNF41 | Homo sapiens | Q9H4P4 | 25910212 | |
|
Intra
|
RRM2B | Q7LG56 | ORC4 | Homo sapiens | O43929 | 25416956 | |
|
Intra
|
RRM2B | Q7LG56 | ATM | Homo sapiens | Q13315 | 19015526 | |
|
Intra
|
RRM2B | Q7LG56 | RRM2B | Homo sapiens | Q7LG56 | 31515488 | |
|
Intra
|
RRM2B | Q7LG56 | ATRIP | Homo sapiens | Q8WXE1 | 19015526 | |
|
Intra
|
RRM2B | Q7LG56 | RRM2B | Homo sapiens | Q7LG56 | 25416956 | |
|
Intra
|
RRM2B | Q7LG56 | RRM2B | Homo sapiens | Q7LG56 | 25502805 |
Recombinant RRM2B Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P76534 | p53R2 Protein, Human (His) | Q7LG56-1 (M1-F351) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Dna Depletion Syndrome 8a |
|
|
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
|
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
|
| Camptocormism |
|
|
| Kearns-Sayre Syndrome |
|
|
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
|
| Mitochondrial Disease |
|
|
| Fanconi Renotubular Syndrome 1 |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Sensorineural Hearing Loss |
|
|
| Mitochondrial Dna Depletion Syndrome 6 |
|
|
| Squamous Cell Carcinoma |
|
|
| Axonal Neuropathy |
|
|
| Chronic Progressive External Ophthalmoplegia |
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
|
| Retinitis Pigmentosa |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
|
| Ptosis |
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
|
| Lactic Acidosis |
|
|
| Mitochondrial Metabolism Disease |
|
|
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
|
| Mitochondrial Dna Depletion Syndrome 4b |
|
|
| Ocular Motility Disease |
|
|
| Mitochondrial Myopathy |
|
|
| Moebius Syndrome |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Myopathy |
|
|
| Mitochondrial Encephalomyopathy |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
|
| Leigh Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | RRM2B | VGNC | VGNC:51781 |
| Macaca mulatta | RRM2B | VGNC | VGNC:77038 |
| Mus musculus | RRM2B | MGD | MGI:2155865 |
| Rattus norvegicus | RRM2B | RGD | RGD:1306045 |
| Felis catus | RRM2B | VGNC | VGNC:64776 |
| Bos taurus | RRM2B | VGNC | VGNC:34166 |
| Others | RRM2B | NCBI |