LOCUS       NM_015713               4774 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens ribonucleotide reductase regulatory TP53 inducible
            subunit M2B (RRM2B), transcript variant 1, mRNA.
ACCESSION   NM_015713
VERSION     NM_015713.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4774)
  AUTHORS   Takaya,K. and Kishi,K.
  TITLE     Identification of a new human senescent skin cell marker
            ribonucleoside-diphosphate reductase subunit M2 B
  JOURNAL   Biogerontology 25 (6), 1239-1251 (2024)
   PUBMED   39261410
  REMARK    GeneRIF: Identification of a new human senescent skin cell marker
            ribonucleoside-diphosphate reductase subunit M2 B.
REFERENCE   2  (bases 1 to 4774)
  AUTHORS   Su,L., Wang,X., Wang,J., Luh,F. and Yen,Y.
  TITLE     Impact of N221S missense mutation in human ribonucleotide reductase
            small subunit b on mitochondrial DNA depletion syndrome
  JOURNAL   Sci Rep 13 (1), 19899 (2023)
   PUBMED   37964013
  REMARK    GeneRIF: Impact of N221S missense mutation in human ribonucleotide
            reductase small subunit b on mitochondrial DNA depletion syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4774)
  AUTHORS   Smith,P., Zhou,B., Ho,N., Yuan,Y.C., Su,L., Tsai,S.C. and Yen,Y.
  TITLE     2.6 A X-ray crystal structure of human p53R2, a p53-inducible
            ribonucleotide reductase
  JOURNAL   Biochemistry 48 (46), 11134-11141 (2009)
   PUBMED   19728742
  REMARK    GeneRIF: The X-ray crystal structure of human p53R2 is determined
            to 2.6 A, in which monomers A and B exhibit mono- and binuclear
            iron occupancy, respectively. Sequence-structure-function
            correlations that differentiate p53R2 and RRM2 are revealed.
REFERENCE   4  (bases 1 to 4774)
  AUTHORS   Shaibani,A., Shchelochkov,O.A., Zhang,S., Katsonis,P.,
            Lichtarge,O., Wong,L.J. and Shinawi,M.
  TITLE     Mitochondrial neurogastrointestinal encephalopathy due to mutations
            in RRM2B
  JOURNAL   Arch Neurol 66 (8), 1028-1032 (2009)
   PUBMED   19667227
  REMARK    GeneRIF: This study expands the clinical spectrum of impaired RIR2B
            function.
REFERENCE   5  (bases 1 to 4774)
  AUTHORS   Tyynismaa,H., Ylikallio,E., Patel,M., Molnar,M.J., Haller,R.G. and
            Suomalainen,A.
  TITLE     A heterozygous truncating mutation in RRM2B causes
            autosomal-dominant progressive external ophthalmoplegia with
            multiple mtDNA deletions
  JOURNAL   Am J Hum Genet 85 (2), 290-295 (2009)
   PUBMED   19664747
  REMARK    GeneRIF: A heterozygous truncating mutation in RRM2B causes
            autosomal-dominant progressive external ophthalmoplegia with
            multiple mtDNA deletions.
REFERENCE   6  (bases 1 to 4774)
  AUTHORS   Bourdon,A., Minai,L., Serre,V., Jais,J.P., Sarzi,E., Aubert,S.,
            Chretien,D., de Lonlay,P., Paquis-Flucklinger,V., Arakawa,H.,
            Nakamura,Y., Munnich,A. and Rotig,A.
  TITLE     Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase
            (p53R2), causes severe mitochondrial DNA depletion
  JOURNAL   Nat Genet 39 (6), 776-780 (2007)
   PUBMED   17486094
  REMARK    GeneRIF: Mutation of RRM2B is associated with mitochondrial
            Diseases
REFERENCE   7  (bases 1 to 4774)
  AUTHORS   Guittet,O., Hakansson,P., Voevodskaya,N., Fridd,S., Graslund,A.,
            Arakawa,H., Nakamura,Y. and Thelander,L.
  TITLE     Mammalian p53R2 protein forms an active ribonucleotide reductase in
            vitro with the R1 protein, which is expressed both in resting cells
            in response to DNA damage and in proliferating cells
  JOURNAL   J Biol Chem 276 (44), 40647-40651 (2001)
   PUBMED   11517226
REFERENCE   8  (bases 1 to 4774)
  AUTHORS   Nakano,K., Balint,E., Ashcroft,M. and Vousden,K.H.
  TITLE     A ribonucleotide reductase gene is a transcriptional target of p53
            and p73
  JOURNAL   Oncogene 19 (37), 4283-4289 (2000)
   PUBMED   10980602
REFERENCE   9  (bases 1 to 4774)
  AUTHORS   Tanaka,H., Arakawa,H., Yamaguchi,T., Shiraishi,K., Fukuda,S.,
            Matsui,K., Takei,Y. and Nakamura,Y.
  TITLE     A ribonucleotide reductase gene involved in a p53-dependent
            cell-cycle checkpoint for DNA damage
  JOURNAL   Nature 404 (6773), 42-49 (2000)
   PUBMED   10716435
REFERENCE   10 (bases 1 to 4774)
  AUTHORS   Lim,A.Z., McFarland,R., Taylor,R.W. and Gorman,G.S.
  TITLE     RRM2B Mitochondrial DNA Maintenance Defects
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24741716
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB036063.1, BC108261.1 and
            AK023605.1.
            
            On Aug 31, 2019 this sequence version replaced NM_015713.4.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB036063.1, AL137348.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251810.8/ ENSP00000251810.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1874              AB036063.1         158-2031
            1875-3150           BC108261.1         1844-3119
            3151-4774           AK023605.1         443-2066
FEATURES             Location/Qualifiers
     source          1..4774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     gene            1..4774
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="ribonucleotide reductase regulatory TP53 inducible
                     subunit M2B"
                     /db_xref="GeneID:50484"
                     /db_xref="HGNC:HGNC:17296"
                     /db_xref="MIM:604712"
     exon            1..135
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            136..291
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            292..408
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            409..542
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            543..637
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            638..771
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            772..876
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            877..990
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     exon            991..4774
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4632..4637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="hexamer: AATAAA"
     polyA_site      4652
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="major polyA site"
     regulatory      4675..4680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="hexamer: AATAAA"
     polyA_site      4694
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="major polyA site"
     regulatory      4752..4757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="hexamer: AATAAA"
     polyA_site      4774
                     /gene="RRM2B"
                     /gene_synonym="MTDPS8A; MTDPS8B; P53R2; RCDFRD"
                     /note="major polyA site"
ORIGIN      
        1 agcggaccac ctgggtgctg tcgtagttgg aggtggcctg aggagctcag ttccctcagc
       61 gcccgtagct tcggcggagt ctgcgcgatg ggcgacccgg aaaggccgga agcggccggg
      121 ctggatcagg atgagagatc atcttcagac accaacgaaa gtgaaataaa gtcaaatgaa
      181 gagccactcc taagaaagag ttctcgccgg tttgtcatct ttccaatcca gtaccctgat
      241 atttggaaaa tgtataaaca ggcacaggct tccttctgga cagcagaaga ggtcgactta
      301 tcaaaggatc tccctcactg gaacaagctt aaagcagatg agaagtactt catctctcac
      361 atcttagcct tttttgcagc cagtgatgga attgtaaatg aaaatttggt ggagcgcttt
      421 agtcaggagg tgcaggttcc agaggctcgc tgtttctatg gctttcaaat tctcatcgag
      481 aatgttcact cagagatgta cagtttgctg atagacactt acatcagaga tcccaagaaa
      541 agggaatttt tatttaatgc aattgaaacc atgccctatg ttaagaaaaa agcagattgg
      601 gccttgcgat ggatagcaga tagaaaatct acttttgggg aaagagtggt ggcctttgct
      661 gctgtagaag gagttttctt ctcaggatct tttgctgcta tattctggct aaagaagaga
      721 ggtcttatgc caggactcac tttttccaat gaactcatca gcagagatga aggacttcac
      781 tgtgactttg cttgcctgat gttccaatac ttagtaaata agccttcaga agaaagggtc
      841 agggagatca ttgttgatgc tgtcaaaatt gagcaggagt ttttaacaga agccttgcca
      901 gttggcctca ttggaatgaa ttgcattttg atgaaacagt acattgagtt tgtagctgac
      961 agattacttg tggaacttgg attctcaaag gtttttcagg cagaaaatcc ttttgatttt
     1021 atggaaaaca tttctttaga aggaaaaaca aatttctttg agaaacgagt ttcagagtat
     1081 cagcgttttg cagttatggc agaaaccaca gataacgtct tcaccttgga tgcagatttt
     1141 taaaaaacct ctcgttttaa aactctataa acttgtcatt ggtaaatagt agtctatttt
     1201 cctctgctta aaaaaaattt taagtatatc ctttaaagga ctgggggttt gctcaaaagg
     1261 aaatccaaaa cctattctaa acaatttgca tttatataat tttcctgttt aacaacaaga
     1321 gtgtgaccta aatgcttttg tcttgtcact gaaataaaag atggcattat gtggttaaga
     1381 gcatggggcg aggggtcaga catgagtcta aggttctgcc cttactccag tgtgtgaccc
     1441 ttggcaagtc agttaatctt ggtaaacctc ggtgtactta tctttaaaat gggagtaata
     1501 gtaggtccta aattcataga gtggatatta ggattaggat gcaaaaataa atgcttaacc
     1561 aacactacta ctgttagcac cactactaat tatcattcat tgataatatt aattgcaatg
     1621 atgttgtaat aaaatactct catttcctta aaataattgt gattctaggt cctaggatct
     1681 agaattagat ctttgtattt ttaatgctta ggggaagaat ataagtatct ccttaaaaag
     1741 aacataattc tcattcacgc aagaataagt tctttgaatt ccttagtatg tagtgaagaa
     1801 aatttagttg ttagttgctt tgggaagcct acttatggag tggaaaccag gaggttatca
     1861 tggtagttga ccttataaga aaaatgattc ttcttcagaa attaaaaaca taactattgc
     1921 cagatttagc tctggaatgt ttagaatcag gctagaatag cattttccaa agaatattct
     1981 aagagctatt agctcctcta gatatttttt tgggggaaaa aggggattct gtggtcagat
     2041 gagtttggga aatgctgaac acttcattct tctttagcaa gtacagtcag tacatcaaag
     2101 actgagcagt tcagtggtac ataaatttat ctcgccctgc atattcccaa catacttaac
     2161 acagatgttt tttacctgtt aacatctcac ccagctagtg ttcctcagaa caaagattgg
     2221 aaaaagctgg ccgagaacca tttatacata gaggaagggc ttatggactg agaaagggag
     2281 aacatggtag ggattattga atcatttcaa atttatacca gcctgaatag tgtaccagca
     2341 attgacttag gctgtgtttc tttatggttt taaaactctt gagctgttat aagagatagt
     2401 tcttttaatg tgactatgca acatgatagc caatggtgag ggaaaaggag gtttctctag
     2461 aagagtctga tgaaaggccg ggaaccaagg tttttgagaa gtctgcccct atttattttt
     2521 agtaagtatc aagaggtagc ctgagcctag ttagagttag acctgtcttt ggatgaagaa
     2581 gtcttaatac tgaaatactg aatttttaat acattattat ttggtattct gtatacccct
     2641 tcaagcagtt gtttcccatt cccaacaaac tgtactttat acaattctgg atgctaaaac
     2701 ttagagattt tctctttgca taaattttgg ctccattctt tccataacaa tctaatcaaa
     2761 actgggagtt ctcaagtgaa tgcaaaagga gcaggccata actttatttg ttagatacac
     2821 tgtcagaaac ttgagatctt ttggcctatg ataataccat taatttttgc attgcttcag
     2881 tttgccaagt gtttttacat catctcattt gatctcaaaa cagcttgaca gagcaactgt
     2941 tattgaaata ttacagatgg aaagaatgag gctcagggaa gttaaatgac ttggccaaga
     3001 tctgctcatc gtcactgtct gtacagtatt tttttttaga ggttgtaatg tctcagattt
     3061 agtcctttac catctatgtt gatttgcttt tgtctatttc ctcattaatt gaatatactt
     3121 taaatatata tattaaagta tcaaaatata gagagacatt tgaactgtat tcaggtaata
     3181 tgtttaaaga tatttatata ttgccataca aaaacttaac atttaaaact gataatatct
     3241 gtaatgacat cagaatgaaa gaaaaaaaat tgtacagtgt atattccttt gttttgaatc
     3301 caaatctttt tcataggtaa tgacagatgc cttaatgtga agcttattta taatagcaat
     3361 aaacctaact ggatttggat gaagaagtct taatactgac atactggatt tttaatgcac
     3421 tggtttgtta tttggtattc tatctctttt tccaggcctc caggttgcac atttatttat
     3481 tatgttcaat actttggttc ttagttctta aagaatcaag aagttgtgta atcttttaaa
     3541 aatattatct tgcagataaa gaaaaaaatt aagagtgtgt ttacaactgt tttctctttt
     3601 ttacagtaca tgtatttaaa tcattgctat aataaagtta agttcattag gaatataaaa
     3661 acttgcagtt ctatgataga ttgcatttat taaaaatgtt tcattgtatc acatagaaat
     3721 atggccagga aggacttgag aagacagttt gatccattgc ttttagacag gactgggttt
     3781 tgctgtccaa ttatatacaa taatagtttt tcttacaact aagctggccc cagccttgtc
     3841 ttgatattaa tacatgaaat ttttataatt gtctcattgt ctcatttaga aacatccata
     3901 tttttctgct ttttctattg ccatttttta tttgtgcatg aattgattat tgagaaaatg
     3961 tagcagtttg catatttaaa aattaatcat tttgcatttt acatttaaat atgctaacat
     4021 cactgtcata gaattcccaa atttcatttg tagatactga actaagggct aatgtcagga
     4081 gctgattttt aatgataaag ctgcagatgg gctaaataaa agccaaatta atcctacaat
     4141 caggtattat gtttttaaac caagttgagt gaattggtag tggacttggg aaatcttccc
     4201 cagcagaatc tggatgaatg gcacagaatt gaaatctctt tgtttcccac catttccctt
     4261 taagtgctct gctcctttgt aaaaagttaa agatttgaaa gagaatctca tattcccgag
     4321 gcattaggaa gaaaggattt aatcccttca atttggggct taatcttgtt taaaaaaatg
     4381 taagtgaaga tggaaggctg gagagaatga ttgctttttg tacagttaaa taaggtcaca
     4441 atattcttac atactttgtt ttacaactgt gttttcattt tttcaaatgt ctggccattt
     4501 agcaaagtta tttactattt actgtgtaca tagaaagctt tattatgtgt ggtgtatcta
     4561 aatttttttt gctgaaatac attatggtca atcaagccaa gcctgcatgt acagaatttg
     4621 tttttttttc aaataaatta gttgttttct tatttttttg gcttagtatg ttgaaataaa
     4681 ctatggtatc ttcatcattt tgtacatttc ctttttgagg aaggtttctt tataagtgca
     4741 agggctaccc taataaagga atgtatatac ttac
//
