Gene Gene information from NCBI Gene database.
Entrez ID 6241
Gene name Ribonucleotide reductase regulatory subunit M2
Gene symbol RRM2
Synonyms (NCBI Gene)
C2orf48R2RR2RR2M
Chromosome 2
Chromosome location 2p25.1
Summary This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Tr
miRNA miRNA information provided by mirtarbase database.
812
miRTarBase ID miRNA Experiments Reference
MIRT005050 hsa-let-7b-5p Microarray 17699775
MIRT016281 hsa-miR-193b-3p Microarray 20304954
MIRT020622 hsa-miR-155-5p Proteomics 18668040
MIRT025270 hsa-miR-34a-5p Proteomics 21566225
MIRT025270 hsa-miR-34a-5p Proteomics 21566225
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F1 Activation 19416980
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001824 Process Blastocyst development IEA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180390 10452 ENSG00000171848
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31350
Protein name Ribonucleoside-diphosphate reductase subunit M2 (EC 1.17.4.1) (Ribonucleotide reductase small chain) (Ribonucleotide reductase small subunit)
Protein function Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling.
PDB 2UW2 , 3OLJ , 3VPM , 3VPN , 3VPO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00268 Ribonuc_red_sm 79 346 Ribonucleotide reductase, small chain Domain
Sequence
Sequence length 389
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Glutathione metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
p53 signaling pathway
  Interconversion of nucleotide di- and triphosphates
G1/S-Specific Transcription
Transcriptional Regulation by E2F6
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 14661056, 18414411
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 18414411
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 14661056, 15300189
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 31732966
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35500219 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 31363169
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23300771, 28705014, 28793209, 31241884
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24497641, 28793209 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 20927319, 23335963, 28339085, 31672935
★☆☆☆☆
Found in Text Mining only