LOCUS       NM_001375               1938 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens deoxyribonuclease 2, lysosomal (DNASE2), mRNA.
ACCESSION   NM_001375
VERSION     NM_001375.3
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 1938)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1938)
  AUTHORS   Ueki,M., Fujihara,J., Kimura-Kataoka,K., Yamada,K., Takinami,Y.,
            Takeshita,H., Iida,R. and Yasuda,T.
  TITLE     Low genetic heterogeneity of copy number variations (CNVs) in the
            genes encoding the human deoxyribonucleases 1-like 3 and II
            potentially relevant to autoimmunity
  JOURNAL   PLoS One 14 (4), e0215479 (2019)
   PUBMED   31022206
  REMARK    GeneRIF: Study of the copy number variations (CNVs) for DNASE1L3
            and DNASE2 in Japanese and German populations found that only 2
            diploid copy numbers for these DNASE CNVs was distributed in both
            populations; no copy loss or gain was evident for any of the
            autoimmune-related DNase genes. These human autoimmune-related
            DNase genes show low genetic diversity of CNVs resulting in
            alterations of the in vivo levels of DNase activity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1938)
  AUTHORS   Rodero,M.P., Tesser,A., Bartok,E., Rice,G.I., Della Mina,E.,
            Depp,M., Beitz,B., Bondet,V., Cagnard,N., Duffy,D., Dussiot,M.,
            Fremond,M.L., Gattorno,M., Guillem,F., Kitabayashi,N.,
            Porcheray,F., Rieux-Laucat,F., Seabra,L., Uggenti,C., Volpi,S.,
            Zeef,L.A.H., Alyanakian,M.A., Beltrand,J., Bianco,A.M.,
            Boddaert,N., Brouzes,C., Candon,S., Caorsi,R., Charbit,M.,
            Fabre,M., Faletra,F., Girard,M., Harroche,A., Hartmann,E.,
            Lasne,D., Marcuzzi,A., Neven,B., Nitschke,P., Pascreau,T.,
            Pastore,S., Picard,C., Picco,P., Piscianz,E., Polak,M.,
            Quartier,P., Rabant,M., Stocco,G., Taddio,A., Uettwiller,F.,
            Valencic,E., Vozzi,D., Hartmann,G., Barchet,W., Hermine,O.,
            Bader-Meunier,B., Tommasini,A. and Crow,Y.J.
  TITLE     Type I interferon-mediated autoinflammation due to DNase II
            deficiency
  JOURNAL   Nat Commun 8 (1), 2176 (2017)
   PUBMED   29259162
  REMARK    GeneRIF: Study identifies biallelic mutations in DNASE2, associated
            with a loss of DNase II endonuclease activity causing type I
            interferonopathy in three patients from two unrelated families.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1938)
  AUTHORS   Fischer,H., Buchberger,M., Napirei,M., Tschachler,E. and Eckhart,L.
  TITLE     Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA
            degradation during epidermal cornification and results in
            constitutive parakeratosis
  JOURNAL   Sci Rep 7 (1), 6433 (2017)
   PUBMED   28743926
  REMARK    GeneRIF: DNase2 participate in the degradation of DNA during
            cornification in the interfollicular epidermis of
            mice.Cornification of epidermal keratinocytes depends on the
            cooperation of DNase1L2 and DNase2.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1938)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1938)
  AUTHORS   Yasuda,T., Takeshita,H., Iida,R., Nakajima,T., Hosomi,O.,
            Nakashima,Y., Mogi,K. and Kishi,K.
  TITLE     Chromosomal localization of a human deoxyribonuclease II gene
            (DNASE2) to 19p13.2-p13.1 using both the polymerase chain reaction
            and fluorescence in situ hybridization analysis
  JOURNAL   Biochem Biophys Res Commun 244 (3), 815-818 (1998)
   PUBMED   9535749
REFERENCE   7  (bases 1 to 1938)
  AUTHORS   Yasuda,T., Takeshita,H., Iida,R., Nakajima,T., Hosomi,O.,
            Nakashima,Y. and Kishi,K.
  TITLE     Molecular cloning of the cDNA encoding human deoxyribonuclease II
  JOURNAL   J Biol Chem 273 (5), 2610-2616 (1998)
   PUBMED   9446563
REFERENCE   8  (bases 1 to 1938)
  AUTHORS   Yasuda,T., Nadano,D., Awazu,S. and Kishi,K.
  TITLE     Human urine deoxyribonuclease II (DNase II) isoenzymes: a novel
            immunoaffinity purification, biochemical multiplicity, genetic
            heterogeneity and broad distribution among tissues and body fluids
  JOURNAL   Biochim Biophys Acta 1119 (2), 185-193 (1992)
   PUBMED   1540651
REFERENCE   9  (bases 1 to 1938)
  AUTHORS   Yasuda,T., Nadano,D., Sawazaki,K. and Kishi,K.
  TITLE     Genetic polymorphism of human deoxyribonuclease II (DNase II): low
            activity levels in urine and leukocytes are due to an autosomal
            recessive allele
  JOURNAL   Ann Hum Genet 56 (1), 1-10 (1992)
   PUBMED   1586130
REFERENCE   10 (bases 1 to 1938)
  AUTHORS   Murai,K., Yamanaka,M., Akagi,K. and Anai,M.
  TITLE     Purification and properties of deoxyribonuclease II from human
            urine
  JOURNAL   J Biochem 87 (4), 1097-1103 (1980)
   PUBMED   6248503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF060222.1 and AC020934.9.
            
            On Nov 22, 2018 this sequence version replaced NM_001375.2.
            
            Summary: This gene encodes a member of the DNase family. The
            protein, located in the lysosome, hydrolyzes DNA under acidic
            conditions and mediates the breakdown of DNA during erythropoiesis
            and apoptosis. Two codominant alleles have been characterized,
            DNASE2*L (low activity) and DNASE2*H (high activity), that differ
            at one nucleotide in the promoter region. The DNASE2*H allele is
            represented in this record. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803615.28874.1,
                                           SRR3476690.755593.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151358 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222219.8/ ENSP00000222219.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1936              AF060222.1         20-1955
            1937-1938           AC020934.9         110133-110134       c
FEATURES             Location/Qualifiers
     source          1..1938
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..1938
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /note="deoxyribonuclease 2, lysosomal"
                     /db_xref="GeneID:1777"
                     /db_xref="HGNC:HGNC:2960"
                     /db_xref="MIM:126350"
     exon            1..160
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1157
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /EC_number="3.1.22.1"
                     /note="acid DNase; R31240_2; DNase II alpha;
                     deoxyribonuclease-2-alpha; DNase II, lysosomal; lysosomal
                     DNase II; deoxyribonuclease II alpha; deoxyribonuclease
                     II, lysosomal"
                     /codon_start=1
                     /product="deoxyribonuclease-2-alpha precursor"
                     /protein_id="NP_001366.1"
                     /db_xref="CCDS:CCDS12284.1"
                     /db_xref="GeneID:1777"
                     /db_xref="HGNC:HGNC:2960"
                     /db_xref="MIM:126350"
                     /translation="MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYKLPALRGSGEA
                     AQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQPLYRSNTSQLAFLLYNDQPPQP
                     SKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCV
                     SFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLT
                     SQAGAVFQSFAKFSKFGDDLYSGWLAAALGTNLQVQFWHKTVGILPSNCSDIWQVLNV
                     NQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQRGGGTLCAQLPALW
                     KAFQPLVKNYQPCNGMARKPSRAYKI"
     exon            161..341
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /inference="alignment:Splign:2.1.0"
     exon            342..420
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /inference="alignment:Splign:2.1.0"
     exon            421..585
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /inference="alignment:Splign:2.1.0"
     exon            586..783
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /inference="alignment:Splign:2.1.0"
     exon            784..1938
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1750..1755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /note="hexamer: AATAAA"
     polyA_site      1774
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /note="major polyA site"
     regulatory      1919..1924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /note="hexamer: AATAAA"
     polyA_site      1938
                     /gene="DNASE2"
                     /gene_synonym="AIPCS; DNASE2A; DNL; DNL2"
                     /note="major polyA site"
ORIGIN      
        1 agtcctggcc tctgatgtaa cccagcgccc cgcagtcccg acacagattc ctggatctca
       61 gccccatagc agctatgatc ccgctgctgc tggcagcgct gctgtgcgtc cccgccgggg
      121 ccctgacctg ctacggggac tccgggcagc ctgtagactg gttcgtggtc tacaagctgc
      181 cagctcttag agggtccggg gaggcggcgc agagagggct gcagtacaag tatctggacg
      241 agagctccgg aggctggcgg gacggcaggg cactcatcaa cagcccggag ggggccgtgg
      301 gccgaagcct gcagccgctg taccggagca acaccagcca gctcgccttc ctgctctaca
      361 atgaccaacc gcctcaaccc agcaaggctc aggactcttc catgcgtggg cacacgaagg
      421 gtgtcctgct ccttgaccac gatgggggct tctggctggt ccacagtgta cctaacttcc
      481 ctccaccggc ctcctctgct gcatacagct ggcctcatag cgcctgtacc tacgggcaga
      541 ccctgctctg tgtgtctttt cccttcgctc agttctcgaa gatgggcaag cagctgacct
      601 acacctaccc ctgggtctat aactaccagc tggaagggat ctttgcccag gaattccccg
      661 acttggagaa tgtggtcaag ggccaccacg ttagccaaga accctggaac agcagcatca
      721 cactcacatc ccaggccggg gctgttttcc agagctttgc caagttcagc aaatttggag
      781 atgacctgta ctccggctgg ttggcagcag cccttggtac caacctgcag gtccagttct
      841 ggcacaaaac tgtaggcatc ctgccctcta actgctcgga tatctggcag gttctgaatg
      901 tgaaccagat agctttccct ggaccagccg gcccaagctt caacagcaca gaggaccact
      961 ccaaatggtg cgtgtcccca aaagggccct ggacctgcgt gggtgacatg aatcggaacc
     1021 agggagagga gcaacggggt gggggcacac tgtgtgccca gctgccagcc ctctggaaag
     1081 ccttccagcc gctggtgaag aactaccagc cctgtaatgg catggccagg aagcccagca
     1141 gagcttataa gatctaaccc ttatggccag gtgcagtggc tcacgtatgt aatcccagca
     1201 ctttgggaag ccaaggaggg aggatcactt gaactcagga attcgagacc agcctgggct
     1261 acatagtgag accacatctc tactagaact taaaaaaagt tagccaggca cggtgataaa
     1321 tgcctgtagt cccagccact gaagccagag gatcgattga accagggaga tcatggtcac
     1381 agtgaactat gattacgcca acctgggtca catagcaaga ctctgtttca aaaaaaaagg
     1441 gggggcgggg gacgggtggg tgcagtggct cacatctgta accccagcac tttgggaggc
     1501 tgagatgggc agatcacttg aggtcaggag ttcgagacca gcctggccaa catggtgaaa
     1561 ccccatatcc attaaaaata tttaaaaatt agccagacat ggtggcacgc gtctgtggtc
     1621 ctagctcctc gggaggctga ggcaggagaa tcgcttgaac tcgggaggca gaggttgtca
     1681 tgagctgagc taacaccacg gcacttcagc ctgggtgaca gaatgagact ctgtgtcaaa
     1741 aaaataaaaa ataaaaaatc taagggctca ggaaccagtt tggacttgat tttgaatccc
     1801 agttcatccc cttcctagct gtatgacctt gattgtgtgc cttaaccgct ctgtgacaca
     1861 gtctacctgt ctgcaaaatg ggaaacataa tacctgccat caggattgtt gaggagtaaa
     1921 taaatggaaa ttggtgga
//
