Format

Send to:

Choose Destination

RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B [ Homo sapiens (human) ]

Gene ID: 50484, updated on 13-Feb-2019

Summary

Official Symbol
RRM2Bprovided by HGNC
Official Full Name
ribonucleotide reductase regulatory TP53 inducible subunit M2Bprovided by HGNC
Primary source
HGNC:HGNC:17296
See related
Ensembl:ENSG00000048392 MIM:604712
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
P53R2; MTDPS8A; MTDPS8B
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 25.9), adrenal (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See RRM2B in Genome Data Viewer
Location:
8q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (102204501..102239118, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (103216729..103251346, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene microRNA 5680 Neighboring gene 6.8 kDa mitochondrial proteolipid-like Neighboring gene UBR5 antisense RNA 1 Neighboring gene SUMO2 pseudogene 19 Neighboring gene ubiquitin protein ligase E3 component n-recognin 5 Neighboring gene uncharacterized LOC105375683

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of ribonucleotide reductase M2 B (RRM2B) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC42116, MGC102856, DKFZp686M05248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleoside triphosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kidney development IEA
Inferred from Electronic Annotation
more info
 
mitochondrial DNA replication IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
renal system process IEA
Inferred from Electronic Annotation
more info
 
response to amine IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ribonucleoside-diphosphate reductase subunit M2 B
Names
TP53-inducible ribonucleotide reductase M2 B
p53-inducible ribonucleotide reductase small subunit 2 homolog
p53-inducible ribonucleotide reductase small subunit 2 short form beta
p53-inducible ribonucleotide reductase small subunit 2-like protein
ribonucleotide reductase M2 B (TP53 inducible)
NP_001165948.1
NP_001165949.1
NP_056528.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016617.1 RefSeqGene

    Range
    5001..39618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_788

mRNA and Protein(s)

  1. NM_001172477.1NP_001165948.1  ribonucleoside-diphosphate reductase subunit M2 B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK023605, AK304354, BC108261, DC308409
    UniProtKB/Swiss-Prot
    Q7LG56
    Related
    ENSP00000428115.1, ENST00000522368.5
    Conserved Domains (1) summary
    cl00264
    Location:104423
    Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins
  2. NM_001172478.1NP_001165949.1  ribonucleoside-diphosphate reductase subunit M2 B isoform 3

    See identical proteins and their annotated locations for NP_001165949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AB036063, AK023605, BC108261
    Consensus CDS
    CCDS55267.1
    UniProtKB/Swiss-Prot
    Q7LG56
    Related
    ENSP00000379248.2, ENST00000395912.6
    Conserved Domains (1) summary
    cl00264
    Location:15299
    Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins
  3. NM_015713.4NP_056528.2  ribonucleoside-diphosphate reductase subunit M2 B isoform 1

    See identical proteins and their annotated locations for NP_056528.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AB036063, AK023605, BC108261
    Consensus CDS
    CCDS34932.1
    UniProtKB/Swiss-Prot
    Q7LG56
    Related
    ENSP00000251810.3, ENST00000251810.7
    Conserved Domains (1) summary
    cl00264
    Location:32351
    Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    102204501..102239118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center