RRM2B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RRM2B |
| Official Name | ribonucleotide reductase regulatory TP53 inducible subunit M2B [Source:HGNC Symbol;Acc:HGNC:17296] |
| Ensembl ID | ENSG00000048392 |
| Bio databases IDs | |
| Aliases | ribonucleotide reductase regulatory TP53 inducible subunit M2B |
| Synonyms | MGC42116, MTDPS8A, MTDPS8B, P53R2, RCDFRD, Ribonucleotide Reductase M2 B (TP53 Inducible), ribonucleotide reductase regulatory TP53 inducible subunit M2B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RRM2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ribonucleoside-diphosphate reductase
- nuclear localization sequence
- enzyme
- protein binding
- identical protein binding
- Ferritin-like superfamily of diiron-containing four-helix-bundle proteins
Pathways
Biological processes and signaling networks where the RRM2B gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pain
- neoplasia
- Langerhans cell histiocytosis
- Waldenström macroglobulinemia
- multiple sclerosis
- relapsing-remitting multiple sclerosis
- cardiac fibrosis
- acute myeloid leukemia
- cervical squamous cell carcinoma
- chronic lymphocytic leukemia
role in cell
- expression in
- growth
- apoptosis
- cell death
- degradation in
- survival
- function
- homologous recombination repair in
- mutagenesis
- immortalization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RRM2B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ribonucleoside diphosphate metabolic process
- DNA repair
- deoxyribonucleoside triphosphate metabolic process
- 2'-deoxyribonucleotide biosynthetic process
- response to amine stimulus
- deoxyribonucleotide biosynthetic process
- mitochondrial DNA replication
- DNA synthesis involved in DNA repair
- renal system process
- response to oxidative stress
- kidney development
- positive regulation of G0 to G1 transition
- positive regulation of G2/M transition of mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytosol
- ribonucleoside-diphosphate reductase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor
- metal ion binding