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

    Gene ID: 50484, updated on 5-Nov-2017
    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; 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]
    Orthologs
    Location:
    8q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC104054148 Neighboring gene microRNA 5680 Neighboring gene UBR5 antisense RNA 1 Neighboring gene SUMO2 pseudogene 19 Neighboring gene ubiquitin protein ligase E3 component n-recognin 5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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
     
    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
     
    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
     
    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 IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    ribonucleoside-diphosphate reductase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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, OTTHUMP00000227450, ENST00000522368.5, OTTHUMT00000380192
      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, OTTHUMP00000227522, ENST00000395912.6, OTTHUMT00000380306
      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, OTTHUMP00000227449, ENST00000251810.7, OTTHUMT00000380191
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

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