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GeneBe

RRM2

ribonucleotide reductase regulatory subunit M2

Basic information

Region (hg38): 2:10120697-10211725

Previous symbols: [ "C2orf48" ]

Links

ENSG00000171848NCBI:6241OMIM:180390HGNC:10452Uniprot:P31350AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RRM2 gene.

  • Inborn genetic diseases (6 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRM2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
5
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 6 0 1

Variants in RRM2

This is a list of pathogenic ClinVar variants found in the RRM2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-10122775-G-T not specified Uncertain significance (Jun 02, 2023)2508259
2-10122837-C-G not specified Uncertain significance (Dec 26, 2023)3156459
2-10122846-G-A Benign (Jan 22, 2018)711013
2-10123390-A-G not specified Uncertain significance (Apr 20, 2023)2514506
2-10123478-A-G not specified Uncertain significance (Dec 28, 2022)2340347
2-10123851-T-C not specified Uncertain significance (Jul 25, 2023)2614254
2-10124835-A-G not specified Uncertain significance (Jan 22, 2024)3156460
2-10126901-C-T not specified Uncertain significance (Aug 23, 2021)2246600
2-10142258-A-T Inborn genetic diseases Uncertain significance (Oct 19, 2021)2343224
2-10210386-C-A not specified Uncertain significance (Aug 10, 2021)2223871

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RRM2protein_codingprotein_codingENST00000360566 109091
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7450.255125744041257480.0000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.341462500.5840.00001192938
Missense in Polyphen2895.8480.292131229
Synonymous-1.1210692.31.150.00000458831
Loss of Function3.56422.10.1810.00000104258

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001120.0000906
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.000008790.00000879
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling.;
Pathway
Pyrimidine metabolism - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);Glutathione metabolism - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Fluoropyrimidine Pathway, Pharmacokinetics;Gemcitabine Pathway, Pharmacodynamics;Purine Nucleoside Phosphorylase Deficiency;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Pyrimidine Metabolism;Xanthine Dehydrogenase Deficiency (Xanthinuria);Adenylosuccinate Lyase Deficiency;AICA-Ribosiduria;Thioguanine Action Pathway;Adenine phosphoribosyltransferase deficiency (APRT);Mitochondrial DNA depletion syndrome;Myoadenylate deaminase deficiency;Purine Metabolism;UMP Synthase Deiciency (Orotic Aciduria);Gemcitabine Action Pathway;MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy);Molybdenum Cofactor Deficiency;Adenosine Deaminase Deficiency;Gemcitabine Metabolism Pathway;Gout or Kelley-Seegmiller Syndrome;Lesch-Nyhan Syndrome (LNS);Xanthinuria type I;Xanthinuria type II;Beta Ureidopropionase Deficiency;Dihydropyrimidinase Deficiency;Fluoropyrimidine Activity;Mitotic G1-G1-S phases;Retinoblastoma (RB) in Cancer;Hepatitis C and Hepatocellular Carcinoma;Pyrimidine metabolism;Nucleotide Metabolism;pyrimidine deoxyribonucleotides <i>de novo</i> biosynthesis;Gene expression (Transcription);Transcriptional Regulation by E2F6;Generic Transcription Pathway;Metabolism of nucleotides;Interconversion of nucleotide di- and triphosphates;RNA Polymerase II Transcription;Metabolism;Activation of E2F1 target genes at G1/S;G1/S-Specific Transcription;Mitotic G1-G1/S phases;Purine nucleotides nucleosides metabolism;superpathway of purine nucleotide salvage;Pyrimidine nucleotides nucleosides metabolism;G1/S Transition;superpathway of pyrimidine deoxyribonucleotides <i>de novo</i> biosynthesis;pyrimidine deoxyribonucleotides biosynthesis from CTP;guanosine deoxyribonucleotides <i>de novo</i> biosynthesis;Cell Cycle;Cell Cycle, Mitotic;guanosine nucleotides <i>de novo</i> biosynthesis;adenosine deoxyribonucleotides <i>de novo</i> biosynthesis;purine nucleotides <i>de novo</i> biosynthesis;E2F transcription factor network (Consensus)

Recessive Scores

pRec
0.216

Intolerance Scores

loftool
0.164
rvis_EVS
-0.25
rvis_percentile_EVS
35.75

Haploinsufficiency Scores

pHI
0.984
hipred
Y
hipred_score
0.825
ghis
0.707

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.990

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rrm2
Phenotype
skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
rrm2
Affected structure
trunk
Phenotype tag
abnormal
Phenotype quality
necrotic

Gene ontology

Biological process
regulation of transcription involved in G1/S transition of mitotic cell cycle;DNA replication;deoxyribonucleotide biosynthetic process;oxidation-reduction process;negative regulation of G0 to G1 transition
Cellular component
cytosol
Molecular function
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor;protein binding;metal ion binding