LOCUS       NM_021233               1317 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens deoxyribonuclease 2 beta (DNASE2B), transcript variant
            1, mRNA.
ACCESSION   NM_021233
VERSION     NM_021233.3
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 1317)
  AUTHORS   Cui,X., Wang,L., Zhang,J., Du,R., Liao,S., Li,D., Li,C., Ke,T.,
            Li,D.W., Huang,H., Yin,Z., Tang,Z. and Liu,M.
  TITLE     HSF4 regulates DLAD expression and promotes lens de-nucleation
  JOURNAL   Biochim Biophys Acta 1832 (8), 1167-1172 (2013)
   PUBMED   23507146
  REMARK    GeneRIF: HSF4 exerts its function on lens differentiation via
            positive regulation of DLAD expression.
REFERENCE   2  (bases 1 to 1317)
  AUTHORS   Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
            Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
            Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
            McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
            Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
            de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
            Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
            Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   3  (bases 1 to 1317)
  AUTHORS   Lange,C.M., Kutalik,Z., Morikawa,K., Bibert,S., Cerny,A.,
            Dollenmaier,G., Dufour,J.F., Gerlach,T.J., Heim,M.H.,
            Malinverni,R., Mullhaupt,B., Negro,F., Moradpour,D. and Bochud,P.Y.
  CONSRTM   Swiss Hepatitis C Cohort Study Group
  TITLE     Serum ferritin levels are associated with a distinct phenotype of
            chronic hepatitis C poorly responding to pegylated interferon-alpha
            and ribavirin therapy
  JOURNAL   Hepatology 55 (4), 1038-1047 (2012)
   PUBMED   22095909
REFERENCE   4  (bases 1 to 1317)
  AUTHORS   Fischer,H., Scherz,J., Szabo,S., Mildner,M., Benarafa,C.,
            Torriglia,A., Tschachler,E. and Eckhart,L.
  TITLE     DNase 2 is the main DNA-degrading enzyme of the stratum corneum
  JOURNAL   PLoS One 6 (3), e17581 (2011)
   PUBMED   21390259
  REMARK    GeneRIF: These data identify DNase 2 as the predominant DNase on
            the mammalian skin surface and indicate that its activity is
            primarily targeted to exogenous DNA.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1317)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1317)
  AUTHORS   Edenberg,H.J., Koller,D.L., Xuei,X., Wetherill,L., McClintick,J.N.,
            Almasy,L., Bierut,L.J., Bucholz,K.K., Goate,A., Aliev,F., Dick,D.,
            Hesselbrock,V., Hinrichs,A., Kramer,J., Kuperman,S.,
            Nurnberger,J.I. Jr., Rice,J.P., Schuckit,M.A., Taylor,R., Todd
            Webb,B., Tischfield,J.A., Porjesz,B. and Foroud,T.
  TITLE     Genome-wide association study of alcohol dependence implicates a
            region on chromosome 11
  JOURNAL   Alcohol Clin Exp Res 34 (5), 840-852 (2010)
   PUBMED   20201924
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1317)
  AUTHORS   Nishimoto,S., Kawane,K., Watanabe-Fukunaga,R., Fukuyama,H.,
            Ohsawa,Y., Uchiyama,Y., Hashida,N., Ohguro,N., Tano,Y.,
            Morimoto,T., Fukuda,Y. and Nagata,S.
  TITLE     Nuclear cataract caused by a lack of DNA degradation in the mouse
            eye lens
  JOURNAL   Nature 424 (6952), 1071-1074 (2003)
   PUBMED   12944971
REFERENCE   8  (bases 1 to 1317)
  AUTHORS   MacLea,K.S., Krieser,R.J. and Eastman,A.
  TITLE     A family history of deoxyribonuclease II: surprises from
            Trichinella spiralis and Burkholderia pseudomallei
  JOURNAL   Gene 305 (1), 1-12 (2003)
   PUBMED   12594037
REFERENCE   9  (bases 1 to 1317)
  AUTHORS   Shiokawa,D. and Tanuma,S.I.
  TITLE     Isolation and characterization of the DLAD/Dlad genes, which lie
            head-to-head with the genes for urate oxidase
  JOURNAL   Biochem Biophys Res Commun 288 (5), 1119-1128 (2001)
   PUBMED   11700027
  REMARK    GeneRIF: gene lie head-to-head with the urate oxidase gene
REFERENCE   10 (bases 1 to 1317)
  AUTHORS   Krieser,R.J., MacLea,K.S., Park,J.P. and Eastman,A.
  TITLE     The cloning, genomic structure, localization, and expression of
            human deoxyribonuclease IIbeta
  JOURNAL   Gene 269 (1-2), 205-216 (2001)
   PUBMED   11376952
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359273.11.
            
            On Jul 21, 2020 this sequence version replaced NM_021233.2.
            
            Summary: The protein encoded by this gene shares considerable
            sequence similarity to, and is structurally related to DNase II.
            The latter is a well characterized endonuclease that catalyzes DNA
            hydrolysis in the absence of divalent cations at acidic pH. Unlike
            DNase II which is ubiquitously expressed, expression of this gene
            product is restricted to the salivary gland and lungs. The gene has
            been localized to chromosome 1p22.3 adjacent (and in opposite
            orientation) to the uricase pseudogene. Two transcript variants
            encoding different isoforms have been described for this gene.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC126138.1, AF274571.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370665.4/ ENSP00000359699.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-206               AL359273.11        140568-140773
            207-384             AL359273.11        143985-144162
            385-466             AL359273.11        150521-150602
            467-628             AL359273.11        152922-153083
            629-826             AL359273.11        154433-154630
            827-1317            AL359273.11        156612-157102
FEATURES             Location/Qualifiers
     source          1..1317
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1-p22.3"
     gene            1..1317
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /note="deoxyribonuclease 2 beta"
                     /db_xref="GeneID:58511"
                     /db_xref="HGNC:HGNC:28875"
                     /db_xref="MIM:608057"
     exon            1..206
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1167
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /EC_number="3.1.22.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; DNase II-like acid DNase; endonuclease DLAD;
                     lysosomal DNase II; DNase II beta; DNase2-like acid DNase;
                     deoxyribonuclease II beta"
                     /codon_start=1
                     /product="deoxyribonuclease-2-beta isoform 1 precursor"
                     /protein_id="NP_067056.2"
                     /db_xref="CCDS:CCDS44167.1"
                     /db_xref="GeneID:58511"
                     /db_xref="HGNC:HGNC:28875"
                     /db_xref="MIM:608057"
                     /translation="MKQKMMARLLRTSFALLFLGLFGVLGAATISCRNEEGKAVDWFT
                     FYKLPKRQNKESGETGLEYLYLDSTTRSWRKSEQLMNDTKSVLGRTLQQLYEAYASKS
                     NNTAYLIYNDGVPKPVNYSRKYGHTKGLLLWNRVQGFWLIHSIPQFPPIPEEGYDYPP
                     TGRRNGQSGICITFKYNQYEAIDSQLLVCNPNVYSCSIPATFHQELIHMPQLCTRASS
                     SEIPGRLLTTLQSAQGQKFLHFAKSDSFLDDIFAAWMAQRLKTHLLTETWQRKRQELP
                     SNCSLPYHVYNIKAIKLSRHSYFSSYQDHAKWCISQKGTKNRWTCIGDLNRSPHQAFR
                     SGGFICTQNWQIYQAFQGLVLYYESCK"
     exon            207..384
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /inference="alignment:Splign:2.1.0"
     exon            385..466
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /inference="alignment:Splign:2.1.0"
     exon            467..628
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /inference="alignment:Splign:2.1.0"
     exon            629..826
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /inference="alignment:Splign:2.1.0"
     exon            827..1317
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1284..1289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /note="hexamer: AATAAA"
     polyA_site      1317
                     /gene="DNASE2B"
                     /gene_synonym="DLAD"
                     /note="major polyA site"
ORIGIN      
        1 agagccagca cagcctgaga gcgccttgaa actcagactc cacaatctat ggggaaagtg
       61 tcctgctgtg gcatgaaata aatgaaacag aaaatgatgg caagactgct aagaacatcc
      121 tttgctttgc tcttccttgg cctctttggg gtgctggggg cagcaacaat ttcatgcaga
      181 aatgaagaag ggaaagctgt ggactggttt actttttata agttacctaa aagacaaaac
      241 aaggaaagtg gagagactgg gttagagtac ctgtacctag actctacaac tagaagctgg
      301 aggaagagtg agcaactaat gaatgacacc aagagtgttt tgggaaggac attacaacag
      361 ctatatgaag catatgcctc taagagtaac aacacagcct atctaatata caatgatgga
      421 gtccctaaac ctgtgaatta cagcagaaag tatggacaca ccaaaggttt actgctgtgg
      481 aacagagttc aagggttctg gctgattcat tccatccctc agtttcctcc aattccggaa
      541 gaaggctatg attatccacc cacagggaga cgaaatggac aaagtggcat ctgcataact
      601 ttcaagtaca accagtatga ggcaatagat tctcagctct tggtctgcaa ccccaacgtc
      661 tatagctgct ccatcccagc cacctttcac caggagctca ttcacatgcc ccagctgtgc
      721 accagggcca gctcatcaga gattcctggc aggctcctca ccacacttca gtcggcccag
      781 ggacaaaaat tcctccattt tgcaaagtcg gattcttttc ttgacgacat ctttgcagcc
      841 tggatggctc aacggctgaa gacacacttg ttaacagaaa cctggcagcg aaaaagacaa
      901 gagcttcctt caaactgctc ccttccttac catgtctaca atataaaagc aattaaatta
      961 tcacgacact cttatttcag ttcttatcaa gatcatgcca agtggtgtat ttcccaaaag
     1021 ggcaccaaaa atcgctggac atgtattgga gacctaaatc ggagtccaca ccaagccttc
     1081 agaagtggag gattcatttg tacccagaat tggcaaattt accaagcatt tcaaggatta
     1141 gtattatact atgaaagctg taagtaaact tggtgaaagg acacaggtac tatcattgaa
     1201 aaccttgaca atgggtcttc ttccattaca ccttctttat attttaaagg cctgtgaata
     1261 tacttataac ctgcatatca caaaataaaa catttttctc tcatgtttac catttaa
//
