RRM2: Ribonucleotide Reductase Regulatory Subunit M2
Key enzyme in DNA synthesis and repair, implicated in cancer and genetic disorders
Gene Information Card
| Symbol | RRM2 |
|---|---|
| Full Name | Ribonucleotide Reductase Regulatory Subunit M2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 6241 ncbi.nlm.nih.gov/gene/6241 |
| Ensembl ID | ENSG00000171848 |
| UniProt ID | P31350 |
| OMIM ID | 180390 |
| HGNC ID | 10452 |
| Aliases | RR2, R2, ribonucleotide reductase M2 subunit |
Description
RRM2 encodes the small subunit (R2) of ribonucleotide reductase, which catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates, essential for DNA synthesis and repair. The enzyme is cell cycle-regulated and overexpressed in many cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression of RRM2 increases dNTP pools, promoting proliferation and resistance to DNA-damaging agents | COSMIC, ClinVar |
| Mitochondrial DNA depletion syndrome 8B (MTDPS8B) | Biallelic mutations in RRM2 impair dNTP supply, leading to mtDNA depletion | OMIM #612075 |
| Ribonucleotide reductase deficiency | Loss-of-function mutations cause severe combined immunodeficiency and anemia | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lymph node | 8.3 | Medium |
| Spleen | 7.1 | Medium |
| Testis | 6.9 | Medium |
| Brain | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 11.4 | Leukemia cell line |
| HepG2 | 9.8 | Liver cancer cell line |
| MCF7 | 7.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.562C>T (p.Arg188Trp) | Missense | Rare | Loss of function; associated with MTDPS8B |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; severe phenotype |
| Amplification | Copy number gain | Common in tumors | Gain of function; increased dNTP synthesis |
Mutation functional classification
Loss of Function (LOF)
Biallelic missense or start-loss mutations reduce or abolish ribonucleotide reductase activity, leading to mtDNA depletion.
Gain of Function (GOF)
Gene amplification or overexpression increases dNTP pools, promoting cancer cell proliferation.
Dominant Negative (DN)
Not reported for RRM2.
View complete mutation data：
Gene Ontology (GO)
| • ribonucleoside-diphosphate reductase activity | • iron ion binding |
| • nucleotide binding | • DNA replication |
| • deoxyribonucleotide biosynthetic process | • cell cycle |
Pathways
• DNA replication
• Purine metabolism
• Pyrimidine metabolism
• p53 signaling pathway
Protein Summary
RRM2 is the 389-amino-acid regulatory subunit of ribonucleotide reductase, forming an active α2β2 complex with RRM1. It contains a di-iron center essential for radical generation and catalysis. Expression is S-phase specific and regulated by transcription factors including E2F and p53.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRM2B Knockout HEK293 Cell Line | EDJ-KQ2101 | Human | 50484 | Details Get a Quote |
| SRRM2 Knockout HEK293 Cell Line | EDJ-KQ2778 | Human | 23524 | Details Get a Quote |
| RRM2B Knockout A-549 Cell Line | EDJ-KQ22210 | Human | 50484 | Details Get a Quote |
| RRM2B Knockout HCT 116 Cell Line | EDJ-KQ22211 | Human | 50484 | Details Get a Quote |
| RRM2B Knockout HeLa Cell Line | EDJ-KQ22212 | Human | 50484 | Details Get a Quote |
| SRRM2 Knockout A-549 Cell Line | EDJ-KQ23691 | Human | 23524 | Details Get a Quote |
| SRRM2 Knockout HCT 116 Cell Line | EDJ-KQ23692 | Human | 23524 | Details Get a Quote |
| SRRM2 Knockout HeLa Cell Line | EDJ-KQ23693 | Human | 23524 | Details Get a Quote |
| RRM2 Knockout HEK293 Cell Line | EDJ-KQ50599 | Human | 6241 | Details Get a Quote |
| RRM2 Knockout HeLa Cell Line | EDJ-KQ54369 | Human | 6241 | Details Get a Quote |
| RRM2 Knockout A-549 Cell Line | EDJ-KQ62864 | Human | 6241 | Details Get a Quote |
| RRM2 Knockout HCT 116 Cell Line | EDJ-KQ71329 | Human | 6241 | Details Get a Quote |
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