RRM2 ribonucleotide reductase regulatory subunit M2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRM2provided by HGNC
Official Full Name: ribonucleotide reductase regulatory subunit M2provided by HGNC
Primary source: HGNC:HGNC:10452
See related: Ensembl:ENSG00000171848 MIM:180390; AllianceGenome:HGNC:10452
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: R2; RR2; RR2M; C2orf48
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. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]
Expression: Biased expression in bone marrow (RPKM 28.1), lymph node (RPKM 20.5) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (10122568..10211010)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (10151280..10239549)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (10262695..10351136)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeting of RRM2 suppresses DNA damage response and activates apoptosis in atypical teratoid rhabdoid tumor.
Title: Targeting of RRM2 suppresses DNA damage response and activates apoptosis in atypical teratoid rhabdoid tumor.
E2F8 exerts cancer-promoting effects by transcriptionally activating RRM2 and E2F8 knockdown synergizes with WEE1 inhibition in suppressing lung adenocarcinoma.
Title: E2F8 exerts cancer-promoting effects by transcriptionally activating RRM2 and E2F8 knockdown synergizes with WEE1 inhibition in suppressing lung adenocarcinoma.
Serum ribonucleotide reductase M2 is a potential biomarker for diagnosing and monitoring liver fibrosis in chronic hepatitis B patients.
Title: Serum ribonucleotide reductase M2 is a potential biomarker for diagnosing and monitoring liver fibrosis in chronic hepatitis B patients.
USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.
Title: USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.
Ribonucleotide reductase regulatory subunit M2 drives glioblastoma TMZ resistance through modulation of dNTP production.
Title: Ribonucleotide reductase regulatory subunit M2 drives glioblastoma TMZ resistance through modulation of dNTP production.
MiR-17- 5p/RRM2 regulated gemcitabine resistance in lung cancer A549 cells.
Title: MiR-17- 5p/RRM2 regulated gemcitabine resistance in lung cancer A549 cells.
Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.
Title: Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.
NMR Analysis Suggests Synergy between the RRM2 and the Carboxy-Terminal Segment of Human La Protein in the Recognition and Interaction with HCV IRES.
Title: NMR Analysis Suggests Synergy between the RRM2 and the Carboxy-Terminal Segment of Human La Protein in the Recognition and Interaction with HCV IRES.
[PRMT1 inhibits apoptosis of nasopharyngeal carcinoma cells by promoting RRM2 expression].
Title: [PRMT1 inhibits apoptosis of nasopharyngeal carcinoma cells by promoting RRM2 expression].
Circ_0008285 knockdown represses tumor development by miR-384/RRM2 axis in hepatocellular carcinoma.
Title: Circ_0008285 knockdown represses tumor development by miR-384/RRM2 axis in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (126)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pol	gag-pol	HIV-1 Pol is identified to have a physical interaction with ribonucleotide reductase M2 (RRM2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS8197 (e-PCR)
- UniSTS:10262

RH70847 (e-PCR)
- UniSTS:67889

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

RH48834 (e-PCR)
- UniSTS:42296

D2S2640 (e-PCR)
- UniSTS:2919

G35510 (e-PCR)
- UniSTS:44150

RRM2_8603 (e-PCR)
- UniSTS:468662

NIB797 (e-PCR)
- UniSTS:39400

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ferric iron binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	ISS Inferred from Sequence or Structural Similarity more info
enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in 2'-deoxyribonucleotide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in blastocyst development	IEA Inferred from Electronic Annotation more info
involved_in deoxyribonucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in deoxyribonucleotide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in protein heterotetramerization	IEA Inferred from Electronic Annotation more info
involved_in ribonucleoside diphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of ribonucleoside-diphosphate reductase complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: ribonucleoside-diphosphate reductase subunit M2

Names: ribonucleotide reductase M2 polypeptide; ribonucleotide reductase small chain; ribonucleotide reductase small subunit; uncharacterized protein C2orf48

NP_001025.1

EC 1.17.4.1

NP_001159403.1

EC 1.17.4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001034.4 → NP_001025.1 ribonucleoside-diphosphate reductase subunit M2 isoform 2

See identical proteins and their annotated locations for NP_001025.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternative downstream promoter, and it thus has a shorter 5' UTR and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC104794, AC118058, BM994533, X59618

Consensus CDS

CCDS1669.1

UniProtKB/Swiss-Prot

B2R9B5, J3KP43, P31350, Q5WRU7

UniProtKB/TrEMBL

A0A286YFD6

Related

ENSP00000302955.4, ENST00000304567.10

Conserved Domains (1) summary

PLN02492
Location:70 → 389

PLN02492; ribonucleoside-diphosphate reductase
NM_001165931.1 → NP_001159403.1 ribonucleoside-diphosphate reductase subunit M2 isoform 1

See identical proteins and their annotated locations for NP_001159403.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC104794, AC118058, BM994533, DA477511, X59618

Consensus CDS

CCDS54334.1

Related

ENSP00000353770.2, ENST00000360566.6

Conserved Domains (1) summary

PLN02492
Location:130 → 449

PLN02492; ribonucleoside-diphosphate reductase

RNA

NR_164157.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007240, AC104794

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

10122568..10211010

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

10151280..10239549

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_161344.1: Suppressed sequence

Description

NR_161344.1: This RefSeq was removed because currently there is insufficient support for the transcript.