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

    Gene ID: 50484, updated on 17-Mar-2024

    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; AllianceGenome:HGNC:17296
    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; RCDFRD; 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
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    Genomic context

    Location:
    8q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (102204501..102238961, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (103330401..103364861, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (103216729..103251189, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103144879-103145380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103145381-103145880 Neighboring gene microRNA 5680 Neighboring gene ATP synthase subunit ATP5MJ, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27744 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:103203063-103203680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:103240735-103241235 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:103243938-103244157 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:103248510-103249709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27748 Neighboring gene SUMO2 pseudogene 19 Neighboring gene UBR5 divergent transcript Neighboring gene ubiquitin protein ligase E3 component n-recognin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:103329370-103329870 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:103335870-103336617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27751 Neighboring gene uncharacterized LOC124902086

    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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC42116, MGC102856, DKFZp686M05248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of ribonucleoside-diphosphate reductase complex ISS
    Inferred from Sequence or Structural Similarity
    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)

    NEW Try the new Transcript table

    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/TrEMBL
      H0YAV1
      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_001172478.2NP_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/TrEMBL
      Q6AI41
      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_015713.5NP_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
      B4E2N4, Q17R22, Q75PQ6, Q75PQ7, Q75PY8, Q75PY9, Q7LG56, Q86YE3, Q9NPD6, Q9NTD8, Q9NUW3
      UniProtKB/TrEMBL
      Q6AI41
      Related
      ENSP00000251810.3, ENST00000251810.8
      Conserved Domains (1) summary
      cl00264
      Location:32351
      Ferritin_like; Ferritin-like superfamily of diiron-containing four-helix-bundle proteins

    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

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      102204501..102238961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      103330401..103364861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)