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RRM2B ribonucleotide reductase M2 B (TP53 inducible) [ Homo sapiens (human) ]

Gene ID: 50484, updated on 11-Sep-2014
Official Symbol
RRM2Bprovided by HGNC
Official Full Name
ribonucleotide reductase M2 B (TP53 inducible)provided by HGNC
Primary source
HGNC:HGNC:17296
See related
Ensembl:ENSG00000048392; HPRD:05276; MIM:604712; Vega:OTTHUMG00000164776
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]
See RRM2B in Epigenomics, MapViewer
Location:
8q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 neurocalcin delta Neighboring gene phosducin-like 3 pseudogene 2 Neighboring gene microRNA 5680 Neighboring gene SUMO2 pseudogene 19 Neighboring gene uncharacterized LOC101927201 Neighboring gene ubiquitin protein ligase E3 component n-recognin 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
 
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleoside diphosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleoside triphosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
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
 
nucleobase-containing small molecule metabolic process 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 oxidative stress IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
ribonucleoside-diphosphate reductase subunit M2 B
Names
ribonucleoside-diphosphate reductase subunit M2 B
TP53-inducible ribonucleotide reductase M2 B
p53-inducible ribonucleotide reductase small subunit 2 homolog
p53-inducible ribonucleotide reductase small subunit 2-like protein
p53-inducible ribonucleotide reductase small subunit 2 short form beta
NP_001165948.1
NP_001165949.1
NP_056528.2

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 

    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
    Conserved Domains (1) summary
    cd01049
    Location:114389
    Blast Score: 1053
    RNRR2; Ribonucleotide Reductase, R2/beta subunit, ferritin-like diiron-binding domain
  2. NM_001172478.1NP_001165949.1  ribonucleoside-diphosphate reductase subunit M2 B isoform 3

    See proteins identical to 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
    Conserved Domains (1) summary
    cd01049
    Location:15265
    Blast Score: 887
    RNRR2; Ribonucleotide Reductase, R2/beta subunit, ferritin-like diiron-binding domain
  3. NM_015713.4NP_056528.2  ribonucleoside-diphosphate reductase subunit M2 B isoform 1

    See proteins identical to 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, OTTHUMP00000227449, ENST00000251810, OTTHUMT00000380191
    Conserved Domains (1) summary
    cd01049
    Location:42317
    Blast Score: 1010
    RNRR2; Ribonucleotide Reductase, R2/beta subunit, ferritin-like diiron-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

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

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    98415432..98450050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    103257019..103291637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)