LOCUS       NM_024570               1513 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ribonuclease H2 subunit B (RNASEH2B), transcript
            variant 1, mRNA.
ACCESSION   NM_024570
VERSION     NM_024570.4
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 1513)
  AUTHORS   Ghosh,D., Kumari,S. and Raghavan,S.C.
  TITLE     Depletion of RNASEH2 Activity Leads to Accumulation of DNA
            Double-strand Breaks and Reduced Cellular Survivability in T Cell
            Leukemia
  JOURNAL   J Mol Biol 434 (12), 167617 (2022)
   PUBMED   35500843
  REMARK    GeneRIF: Depletion of RNASEH2 Activity Leads to Accumulation of DNA
            Double-strand Breaks and Reduced Cellular Survivability in T Cell
            Leukemia.
REFERENCE   2  (bases 1 to 1513)
  AUTHORS   Miao,C., Tsujino,T., Takai,T., Gui,F., Tsutsumi,T., Sztupinszki,Z.,
            Wang,Z., Azuma,H., Szallasi,Z., Mouw,K.W., Zou,L., Kibel,A.S. and
            Jia,L.
  TITLE     RB1 loss overrides PARP inhibitor sensitivity driven by RNASEH2B
            loss in prostate cancer
  JOURNAL   Sci Adv 8 (7), eabl9794 (2022)
   PUBMED   35179959
  REMARK    GeneRIF: RB1 loss overrides PARP inhibitor sensitivity driven by
            RNASEH2B loss in prostate cancer.
REFERENCE   3  (bases 1 to 1513)
  AUTHORS   Polaczek,R., Schurmann,P., Speith,L.M., Geffers,R., Durst,M.,
            Hillemanns,P., Park-Simon,T.W., Liebrich,C. and Dork,T.
  TITLE     Germline variation of Ribonuclease H2 genes in ovarian cancer
            patients
  JOURNAL   J Ovarian Res 13 (1), 146 (2020)
   PUBMED   33353557
  REMARK    GeneRIF: Germline variation of Ribonuclease H2 genes in ovarian
            cancer patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1513)
  AUTHORS   Shapson-Coe,A., Valeiras,B., Wall,C. and Rada,C.
  TITLE     Aicardi-Goutieres Syndrome associated mutations of RNase H2B impair
            its interaction with ZMYM3 and the CoREST histone-modifying complex
  JOURNAL   PLoS One 14 (3), e0213553 (2019)
   PUBMED   30889214
  REMARK    GeneRIF: AGS mutations in this cluster impair the interaction of
            RNase H2 with several members of the CoREST chromatin-silencing
            complex that include the histone deacetylase HDAC2 and the
            demethylase KDM1A, the transcriptional regulators RCOR1 and GTFII-I
            as well as ZMYM3, an MYM-type zinc finger protein.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1513)
  AUTHORS   Crow,Y.J., Leitch,A., Hayward,B.E., Garner,A., Parmar,R.,
            Griffith,E., Ali,M., Semple,C., Aicardi,J., Babul-Hirji,R.,
            Baumann,C., Baxter,P., Bertini,E., Chandler,K.E., Chitayat,D.,
            Cau,D., Dery,C., Fazzi,E., Goizet,C., King,M.D., Klepper,J.,
            Lacombe,D., Lanzi,G., Lyall,H., Martinez-Frias,M.L., Mathieu,M.,
            McKeown,C., Monier,A., Oade,Y., Quarrell,O.W., Rittey,C.D.,
            Rogers,R.C., Sanchis,A., Stephenson,J.B., Tacke,U., Till,M.,
            Tolmie,J.L., Tomlin,P., Voit,T., Weschke,B., Woods,C.G., Lebon,P.,
            Bonthron,D.T., Ponting,C.P. and Jackson,A.P.
  TITLE     Mutations in genes encoding ribonuclease H2 subunits cause
            Aicardi-Goutieres syndrome and mimic congenital viral brain
            infection
  JOURNAL   Nat Genet 38 (8), 910-916 (2006)
   PUBMED   16845400
REFERENCE   6  (bases 1 to 1513)
  AUTHORS   Ali,M., Highet,L.J., Lacombe,D., Goizet,C., King,M.D., Tacke,U.,
            van der Knaap,M.S., Lagae,L., Rittey,C., Brunner,H.G., van
            Bokhoven,H., Hamel,B., Oade,Y.A., Sanchis,A., Desguerre,I., Cau,D.,
            Mathieu,N., Moutard,M.L., Lebon,P., Kumar,D., Jackson,A.P. and
            Crow,Y.J.
  TITLE     A second locus for Aicardi-Goutieres syndrome at chromosome
            13q14-21
  JOURNAL   J Med Genet 43 (5), 444-450 (2006)
   PUBMED   15908569
REFERENCE   7  (bases 1 to 1513)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   8  (bases 1 to 1513)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 1513)
  AUTHORS   Crow,Y.J.
  TITLE     Aicardi-Goutieres Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301648
REFERENCE   10 (bases 1 to 1513)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137881.12 and BC036744.1.
            
            On Aug 31, 2019 this sequence version replaced NM_024570.3.
            
            Summary: RNase H2 is composed of a single catalytic subunit (A) and
            two non-catalytic subunits (B and C) and specifically degrades the
            RNA of RNA:DNA hybrids. The protein encoded by this gene is the
            non-catalytic B subunit of RNase H2, which is thought to play a
            role in DNA replication. Multiple transcript variants encoding
            different isoforms have been found for this gene. Defects in this
            gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2).
            [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer 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 :: AK223340.1, AK021774.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336617.8/ ENSP00000337623.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-350               AL137881.12        53410-53759
            351-422             AL137881.12        71026-71097
            423-530             AL137881.12        73094-73201
            531-607             AL137881.12        74302-74378
            608-722             AL137881.12        78504-78618
            723-796             AL137881.12        86940-87013
            797-902             AL137881.12        89046-89151
            903-984             AL137881.12        91606-91687
            985-1027            AL137881.12        93082-93124
            1028-1108           AL137881.12        97524-97604
            1109-1207           AL137881.12        99977-100075
            1208-1513           BC036744.1         1185-1490
FEATURES             Location/Qualifiers
     source          1..1513
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     gene            1..1513
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /note="ribonuclease H2 subunit B"
                     /db_xref="GeneID:79621"
                     /db_xref="HGNC:HGNC:25671"
                     /db_xref="MIM:610326"
     exon            1..350
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     CDS             287..1225
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     deleted in lymphocytic leukemia 8; RNase H2 subunit B;
                     Aicardi-Goutieres syndrome 2 protein; ribonuclease HI
                     subunit B"
                     /codon_start=1
                     /product="ribonuclease H2 subunit B isoform 1"
                     /protein_id="NP_078846.2"
                     /db_xref="CCDS:CCDS9425.1"
                     /db_xref="GeneID:79621"
                     /db_xref="HGNC:HGNC:25671"
                     /db_xref="MIM:610326"
                     /translation="MAAGVDCGDGVGARQHVFLVSEYLKDASKKMKNGLMFVKLVNPC
                     SGEGAIYLFNMCLQQLFEVKVFKEKHHSWFINQSVQSGGLLHFATPVDPLFLLLHYLI
                     KADKEGKFQPLDQVVVDNVFPNCILLLKLPGLEKLLHHVTEEKGNPEIDNKKYYKYSK
                     EKTLKWLEKKVNQTVAALKTNNVNVSSRVQSTAFFSGDQASTDKEEDYIRYAHGLISD
                     YIPKELSDDLSKYLKLPEPSASLPNPPSKKIKLSDEPVEAKEDYTKFNTKDLKTEKKN
                     SKMTAAQKALAKVDKSGMKSIDTFFGVKNKKKIGKV"
     exon            351..422
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            423..530
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            531..607
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            608..722
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            723..796
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            797..902
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            903..984
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1027
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1108
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1513
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1235..1240
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /note="hexamer: AATAAA"
     polyA_site      1252
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /note="major polyA site"
     regulatory      1492..1497
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /note="hexamer: AATAAA"
     polyA_site      1513
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
ORIGIN      
        1 actagcggag ccgcgaggga gaggccgcgg ccccttcccg ttgcctgcgg ccaccggccg
       61 gcattcagag cccctcgcct ggcgctaaat ttaaaaacgt aacacgagca gcaggctggt
      121 ctcggaaacg aaacgaaatt cggtccctgg gcctcctccc gggcgctgcc ggtccctcag
      181 cgcgccgcgc cacccggaac agacccttct cccgccattt tcggcggggc tgggagactg
      241 aggcccgcgg cgctgagcct gcggcgcccc ggaagaggcg ggcggcatgg ccgctggcgt
      301 ggactgcggg gacggggttg gcgcccggca gcacgtgttc ctggtttcag aatatttaaa
      361 agatgcttca aagaagatga aaaatgggct aatgtttgta aaactggtta acccctgttc
      421 aggagaagga gccatttact tgttcaatat gtgtctacag cagctgtttg aagtaaaagt
      481 tttcaaggaa aaacaccatt cttggtttat aaatcaatca gttcaatcag gaggtcttct
      541 ccattttgcc acacctgtgg atcctctatt tctgcttctc cactacctca taaaggctga
      601 taaggagggg aagtttcagc cccttgatca agttgtggtg gataacgtgt ttccaaattg
      661 catcttgttg ctgaaacttc ctggacttga gaagttactt catcatgtga cagaggaaaa
      721 aggtaatcca gaaatagaca acaagaaata ttacaagtac agcaaagaga agacattaaa
      781 gtggctggaa aaaaaggtta atcaaactgt ggcagcatta aaaaccaata atgtgaatgt
      841 cagttcccgg gtacagtcaa ctgcattttt ctctggtgac caagcttcca ctgacaagga
      901 agaggattat attcgttatg cccatggtct gatatctgac tacatcccta aagaattaag
      961 tgatgactta tctaaatact taaagcttcc agaaccttca gcctcattgc caaatcctcc
     1021 atcaaagaaa ataaagttat cagatgagcc tgtagaagca aaagaagatt acactaagtt
     1081 taatactaaa gatttgaaga ctgaaaagaa aaatagcaaa atgactgcag ctcagaaggc
     1141 tttggctaaa gttgacaaga gtggaatgaa aagtattgat accttttttg gggtaaaaaa
     1201 taaaaaaaaa attggaaagg tttgaaactt tgaaaataaa atctagcaaa aatatttgct
     1261 ttttacatgt ttcagtttgt ccttcctgac tgttaatgac tacctttggt tgggggaagg
     1321 aagaggccaa tttcatgttc tcttaaacat ttctttgcat ttggtttttg tgttcctgaa
     1381 caaaatatgg gaaagtgtct aacttcatgg ctatggcctt ttggagtctc atctgacata
     1441 atgaaaagta atcacttgaa gagaattaac atatagcatc atgattttct caataaactg
     1501 atgtgtgaca atg
//
