LOCUS       NM_007215               1582 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens DNA polymerase gamma 2, accessory subunit (POLG2),
            mRNA.
ACCESSION   NM_007215
VERSION     NM_007215.4
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 1582)
  AUTHORS   Borsche,M., Dulovic-Mahlow,M., Baumann,H., Tunc,S., Luth,T.,
            Schaake,S., Ozcakir,S., Westenberger,A., Munchau,A., Knappe,E.,
            Trinh,J., Bruggemann,N. and Lohmann,K.
  TITLE     POLG2-Linked Mitochondrial Disease: Functional Insights from New
            Mutation Carriers and Review of the Literature
  JOURNAL   Cerebellum 23 (2), 479-488 (2024)
   PUBMED   37085601
  REMARK    GeneRIF: POLG2-Linked Mitochondrial Disease: Functional Insights
            from New Mutation Carriers and Review of the Literature.
            Review article
REFERENCE   2  (bases 1 to 1582)
  AUTHORS   Wojtaszek,J.L., Hoff,K.E., Longley,M.J., Kaur,P., Andres,S.N.,
            Wang,H., Williams,R.S. and Copeland,W.C.
  TITLE     Structure-specific roles for PolG2-DNA complexes in maintenance and
            replication of mitochondrial DNA
  JOURNAL   Nucleic Acids Res 51 (18), 9716-9732 (2023)
   PUBMED   37592734
  REMARK    GeneRIF: Structure-specific roles for PolG2-DNA complexes in
            maintenance and replication of mitochondrial DNA.
REFERENCE   3  (bases 1 to 1582)
  AUTHORS   Park,J., Herrmann,G.K., Mitchell,P.G., Sherman,M.B. and Yin,Y.W.
  TITLE     Polgamma coordinates DNA synthesis and proofreading to ensure
            mitochondrial genome integrity
  JOURNAL   Nat Struct Mol Biol 30 (6), 812-823 (2023)
   PUBMED   37202477
REFERENCE   4  (bases 1 to 1582)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 1582)
  AUTHORS   Longley,M.J., Clark,S., Yu Wai Man,C., Hudson,G., Durham,S.E.,
            Taylor,R.W., Nightingale,S., Turnbull,D.M., Copeland,W.C. and
            Chinnery,P.F.
  TITLE     Mutant POLG2 disrupts DNA polymerase gamma subunits and causes
            progressive external ophthalmoplegia
  JOURNAL   Am J Hum Genet 78 (6), 1026-1034 (2006)
   PUBMED   16685652
REFERENCE   6  (bases 1 to 1582)
  AUTHORS   Carrodeguas,J.A., Pinz,K.G. and Bogenhagen,D.F.
  TITLE     DNA binding properties of human pol gammaB
  JOURNAL   J Biol Chem 277 (51), 50008-50014 (2002)
   PUBMED   12379656
  REMARK    GeneRIF: PolB gamma can bind double-stranded DNA and may play a
            role in DNA replication or repair
REFERENCE   7  (bases 1 to 1582)
  AUTHORS   Carrodeguas,J.A. and Bogenhagen,D.F.
  TITLE     Protein sequences conserved in prokaryotic aminoacyl-tRNA
            synthetases are important for the activity of the processivity
            factor of human mitochondrial DNA polymerase
  JOURNAL   Nucleic Acids Res 28 (5), 1237-1244 (2000)
   PUBMED   10666468
REFERENCE   8  (bases 1 to 1582)
  AUTHORS   Johnson,A.A., Tsai,Yc., Graves,S.W. and Johnson,K.A.
  TITLE     Human mitochondrial DNA polymerase holoenzyme: reconstitution and
            characterization
  JOURNAL   Biochemistry 39 (7), 1702-1708 (2000)
   PUBMED   10677218
REFERENCE   9  (bases 1 to 1582)
  AUTHORS   Lim,S.E., Longley,M.J. and Copeland,W.C.
  TITLE     The mitochondrial p55 accessory subunit of human DNA polymerase
            gamma enhances DNA binding, promotes processive DNA synthesis, and
            confers N-ethylmaleimide resistance
  JOURNAL   J Biol Chem 274 (53), 38197-38203 (1999)
   PUBMED   10608893
REFERENCE   10 (bases 1 to 1582)
  AUTHORS   Wang,Y., Farr,C.L. and Kaguni,L.S.
  TITLE     Accessory subunit of mitochondrial DNA polymerase from Drosophila
            embryos. Cloning, molecular analysis, and association in the native
            enzyme
  JOURNAL   J Biol Chem 272 (21), 13640-13646 (1997)
   PUBMED   9153213
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI826587.1, BC009194.2 and
            BC000913.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_007215.3.
            
            Summary: This gene encodes the processivity subunit of the
            mitochondrial DNA polymerase gamma. The encoded protein forms a
            heterotrimer containing one catalytic subunit and two processivity
            subunits. This protein enhances DNA binding and promotes processive
            DNA synthesis. Mutations in this gene result in autosomal dominant
            progressive external ophthalmoplegia with mitochondrial DNA
            deletions.[provided by RefSeq, Sep 2009].
            
            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 :: BC009194.2, AF142992.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000539111.7/
                                                  ENSP00000442563.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                BI826587.1         13-30
            19-591              BC009194.2         1-573
            592-1582            BC000913.2         352-1342
FEATURES             Location/Qualifiers
     source          1..1582
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..1582
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /note="DNA polymerase gamma 2, accessory subunit"
                     /db_xref="GeneID:11232"
                     /db_xref="HGNC:HGNC:9180"
                     /db_xref="MIM:604983"
     exon            1..648
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1544
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /EC_number="2.7.7.7"
                     /note="mitochondrial DNA polymerase, accessory subunit;
                     DNA polymerase subunit gamma-2, mitochondrial;
                     mitochondrial DNA polymerase subunit gamma-2; p55; DNA
                     polymerase gamma accessory 55 kDa subunit; polymerase (DNA
                     directed), gamma 2, accessory subunit; polymerase (DNA)
                     gamma 2, accessory subunit"
                     /codon_start=1
                     /product="DNA polymerase subunit gamma-2"
                     /protein_id="NP_009146.2"
                     /db_xref="CCDS:CCDS32706.1"
                     /db_xref="GeneID:11232"
                     /db_xref="HGNC:HGNC:9180"
                     /db_xref="MIM:604983"
                     /translation="MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHV
                     KSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLSGSKQQLSRDSLLSGCHPGFGPL
                     GVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
                     ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPV
                     FDTKQIRNGVKSIGEKTEASLVWFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSS
                     DCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPC
                     VLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPT
                     LELRQVCQGLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLEN
                     GLIHLRSRDTTMKEMMHISKLKDFLIKYISSAKNV"
     exon            649..775
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     exon            776..881
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1055
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1196
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1277
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1378
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1379..1582
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1561..1566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /note="hexamer: AATAAA"
     polyA_site      1582
                     /gene="POLG2"
                     /gene_synonym="HP55; MTDPS16; MTDPS16A; MTDPS16B; MTPOLB;
                     PEOA4; POLB; POLG-BETA; POLGB"
                     /note="major polyA site"
ORIGIN      
        1 gcctctccgg attctgttaa cggtagtggt ggcttgttgg gatccgttga gtgatgggag
       61 agtgtgctct ttaacttcgg agagagatgc gctctcgtgt agccgtcagg gcctgccata
      121 aggtctgcag gtgcctgttg tctgggtttg ggggtcgagt agatgcgggg cagccggagc
      181 tgttgacgga aaggagtagc cccaaaggag ggcatgtgaa gtcgcacgcg gagctcgagg
      241 ggaacggcga gcacccagaa gcccccgggt ctggagaggg aagcgaggcg ctgttagaga
      301 tctgtcagag aaggcatttc ctaagtggaa gcaagcagca gcttagccgg gattctcttc
      361 tgagtgggtg ccaccccggc ttcggaccct tgggcgtaga gttgcggaag aacctggccg
      421 cagaatggtg gacctcggtg gtggtgttca gggagcaggt attcccggtg gacgccctcc
      481 accacaaacc aggccctttg ctacccgggg acagtgcctt caggttagtt tctgcagaaa
      541 ctctacgcga aatcttgcaa gacaaagagc tgagtaagga acagctagta gcatttcttg
      601 agaacgtatt aaaaacttct gggaaactac gggagaacct tcttcacggt gccttggaac
      661 actatgttaa ttgcctggat ctggtaaaca agaggctacc ttatggcctt gctcagattg
      721 gagtgtgttt tcatcctgtt tttgacacta agcagatacg aaatggtgtt aaaagtattg
      781 gtgagaagac tgaagcttcg ttagtatggt ttactcctcc gagaacttca aaccagtggc
      841 ttgatttctg gttacgtcat cgactccagt ggtggagaaa gtttgccatg agtccatcta
      901 acttcagcag cagtgactgt caggatgaag aaggccggaa aggaaacaaa ctttactaca
      961 attttccctg gggaaaggag ttaatagaaa ccctgtggaa cctaggagat cacgaacttt
     1021 tacacatgta tcctggcaat gtgtctaaat tacatggccg agatggacga aaaaatgtgg
     1081 ttccttgtgt tctctctgta aatggggacc tagaccgagg catgctggcc tacctctatg
     1141 attctttcca gctgacagag aactccttta caagaaagaa aaatcttcat agaaaggtac
     1201 ttaaacttca cccttgttta gcccctatta aggttgcttt ggatgtagga agaggcccca
     1261 cattggaact aagacaggtt tgtcaagggc tatttaatga gttactagaa aatgggattt
     1321 ctgtgtggcc tggttatttg gaaactatgc agtcctcatt ggaacaactt tattcgaagt
     1381 atgatgaaat gagtattctc ttcacagttt tggttactga aactactttg gagaatggat
     1441 taatacatct gagaagcaga gacaccacaa tgaaggaaat gatgcatata tccaaattaa
     1501 aagacttttt gattaagtat atatcatcag ctaagaatgt atagattttt atatttgtat
     1561 aataaatatt cttctctcct aa
//
