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2024-04-20 10:22:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001375 2011 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.
ACCESSION NM_001375
VERSION NM_001375.2 GI:58331228
KEYWORDS RefSeq.
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 2011)
AUTHORS Kimura-Kataoka,K., Yasuda,T., Fujihara,J., Toga,T., Ono,R.,
Otsuka,Y., Ueki,M., Iida,R., Sano,R., Nakajima,T., Kominato,Y.,
Kato,H. and Takeshita,H.
TITLE Genetic and expression analysis of SNPs in the human
deoxyribonuclease II: SNPs in the promoter region reduce its in
vivo activity through decreased promoter activity
JOURNAL Electrophoresis 33 (18), 2852-2858 (2012)
PUBMED 23019102
REMARK GeneRIF: study demonstrated the relationship of
genotypes/haplotypes with the in vivo DNase II and promoter
activities; significant correlations between genotype in each
rheumatoid arthritis (RA)-related SNP and enzymatic activity levels
were found; alleles associated with RA exhibited a reduction in
serum DNase II activity.
REFERENCE 2 (bases 1 to 2011)
AUTHORS Rossol,M., Pierer,M., Arnold,S., Keysser,G., Burkhardt,H.,
Baerwald,C. and Wagner,U.
TITLE Homozygosity for DNASE2 single nucleotide polymorphisms in the
5'-regulatory region is associated with rheumatoid arthritis
JOURNAL Ann. Rheum. Dis. 68 (9), 1498-1503 (2009)
PUBMED 18812394
REMARK GeneRIF: The association of SNPs in the 5'-regulatory region of the
DNA degrading enzyme DNASE2 with Rheumatoid Arthritis implies a
role for this enzyme in the pathogenesis of this autoimmune
disease.
GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 3 (bases 1 to 2011)
AUTHORS Schafer,P., Cymerman,I.A., Bujnicki,J.M. and Meiss,G.
TITLE Human lysosomal DNase IIalpha contains two requisite PLD-signature
(HxK) motifs: evidence for a pseudodimeric structure of the active
enzyme species
JOURNAL Protein Sci. 16 (1), 82-91 (2007)
PUBMED 17192590
REMARK GeneRIF: the enzyme is a monomeric phospholipase D-family member
with a pseudodimeric protein fold
REFERENCE 4 (bases 1 to 2011)
AUTHORS Shin,H.D., Park,B.L., Cheong,H.S., Lee,H.S., Jun,J.B. and Bae,S.C.
TITLE DNase II polymorphisms associated with risk of renal disorder among
systemic lupus erythematosus patients
JOURNAL J. Hum. Genet. 50 (3), 107-111 (2005)
PUBMED 15723160
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 2011)
AUTHORS Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
Myers,R.M., Rubin,E.M. and Lucas,S.M.
TITLE The DNA sequence and biology of human chromosome 19
JOURNAL Nature 428 (6982), 529-535 (2004)
PUBMED 15057824
REFERENCE 6 (bases 1 to 2011)
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 2011)
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 2011)
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 2011)
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 (PT 1), 1-10 (1992)
PUBMED 1586130
REFERENCE 10 (bases 1 to 2011)
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 BX394955.2 and AF060222.1.
On Jan 29, 2005 this sequence version replaced gi:4503348.
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 :: AF060222.1, AF047016.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-53 BX394955.2 52-104
54-2011 AF060222.1 1-1958
FEATURES Location/Qualifiers
source 1..2011
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.2"
gene 1..2011
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="deoxyribonuclease II, lysosomal"
/db_xref="GeneID:1777"
/db_xref="HGNC:2960"
/db_xref="HPRD:00531"
/db_xref="MIM:126350"
exon 1..232
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="alignment:Splign:1.39.8"
misc_feature 1
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="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. The
DNASE2*L allele has an A at this position."
variation 71
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/replace="a"
/replace="c"
/db_xref="dbSNP:3179566"
misc_feature 90..92
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="upstream in-frame stop codon"
CDS 147..1229
/gene="DNASE2"
/gene_synonym="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"
/codon_start=1
/product="deoxyribonuclease-2-alpha precursor"
/protein_id="NP_001366.1"
/db_xref="GI:4503349"
/db_xref="CCDS:CCDS12284.1"
/db_xref="GeneID:1777"
/db_xref="HGNC:2960"
/db_xref="HPRD:00531"
/db_xref="MIM:126350"
/translation="
MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYKLPALRGSGEAAQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQPLYRSNTSQLAFLLYNDQPPQPSKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCVSFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLTSQAGAVFQSFAKFSKFGDDLYSGWLAAALGTNLQVQFWHKTVGILPSNCSDIWQVLNVNQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQRGGGTLCAQLPALWKAFQPLVKNYQPCNGMARKPSRAYKI
"
sig_peptide 147..200
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 198..1187
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="Deoxyribonuclease II; Region: DNase_II; pfam03265"
/db_xref="CDD:190583"
misc_feature 198..674
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="Catalytic domain, repeat 1, of Deoxyribonuclease II
alpha and similar proteins; Region: PLDc_DNaseII_alpha_1;
cd09189"
/db_xref="CDD:197285"
misc_feature 282..284
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
misc_feature 285..287
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
misc_feature 402..404
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature order(483..485,489..491,537..539,543..545,609..611)
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="putative active site [active]"
/db_xref="CDD:197285"
misc_feature 483..485
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="catalytic site [active]"
/db_xref="CDD:197285"
misc_feature 771..1187
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="Catalytic domain, repeat 2, of Deoxyribonuclease II
alpha and similar proteins; Region: PLDc_DNaseII_alpha_2;
cd09191"
/db_xref="CDD:197287"
misc_feature 780..782
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature 942..944
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature 1014..1016
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature order(1029..1031,1035..1037,1077..1079,1083..1085,
1113..1115)
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="putative active site [active]"
/db_xref="CDD:197287"
misc_feature 1029..1031
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/note="catalytic site [active]"
/db_xref="CDD:197287"
exon 233..413
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="alignment:Splign:1.39.8"
exon 414..492
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="alignment:Splign:1.39.8"
exon 493..657
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="alignment:Splign:1.39.8"
exon 658..855
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="alignment:Splign:1.39.8"
exon 856..2008
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/inference="alignment:Splign:1.39.8"
variation 1087
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1061192"
variation 1158
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802335"
variation 1348
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1802337"
STS 1375..1481
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/standard_name="RH44826"
/db_xref="UniSTS:43356"
variation 1513
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1802336"
STS 1601..1731
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
polyA_signal 1643..1648
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
polyA_site 1670
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
polyA_signal 1815..1820
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
polyA_signal 1822..1827
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
polyA_site 1841
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/experiment="experimental evidence, no additional details
recorded"
STS 1851..1973
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
/standard_name="RH65998"
/db_xref="UniSTS:46078"
polyA_signal 1991..1996
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
polyA_site 2008
/gene="DNASE2"
/gene_synonym="DNASE2A; DNL; DNL2"
ORIGIN
gagtctgtaccctcgtgatgtccccgccccggttcccaggcaagtttagggaagtgaaaggcgccaggtgccagtcctggcctctgatgtaacccagcgccccgcagtcccgacacagattcctggatctcagccccatagcagctatgatcccgctgctgctggcagcgctgctgtgcgtccccgccggggccctgacctgctacggggactccgggcagcctgtagactggttcgtggtctacaagctgccagctcttagagggtccggggaggcggcgcagagagggctgcagtacaagtatctggacgagagctccggaggctggcgggacggcagggcactcatcaacagcccggagggggccgtgggccgaagcctgcagccgctgtaccggagcaacaccagccagctcgccttcctgctctacaatgaccaaccgcctcaacccagcaaggctcaggactcttccatgcgtgggcacacgaagggtgtcctgctccttgaccacgatgggggcttctggctggtccacagtgtacctaacttccctccaccggcctcctctgctgcatacagctggcctcatagcgcctgtacctacgggcagaccctgctctgtgtgtcttttcccttcgctcagttctcgaagatgggcaagcagctgacctacacctacccctgggtctataactaccagctggaagggatctttgcccaggaattccccgacttggagaatgtggtcaagggccaccacgttagccaagaaccctggaacagcagcatcacactcacatcccaggccggggctgttttccagagctttgccaagttcagcaaatttggagatgacctgtactccggctggttggcagcagcccttggtaccaacctgcaggtccagttctggcacaaaactgtaggcatcctgccctctaactgctcggatatctggcaggttctgaatgtgaaccagatagctttccctggaccagccggcccaagcttcaacagcacagaggaccactccaaatggtgcgtgtccccaaaagggccctggacctgcgtgggtgacatgaatcggaaccagggagaggagcaacggggtgggggcacactgtgtgcccagctgccagccctctggaaagccttccagccgctggtgaagaactaccagccctgtaatggcatggccaggaagcccagcagagcttataagatctaacccttatggccaggtgcagtggctcacgtatgtaatcccagcactttgggaagccaaggagggaggatcacttgaactcaggaattcgagaccagcctgggctacatagtgagaccacatctctactagaacttaaaaaaagttagccaggcacggtgataaatgcctgtagtcccagccactgaagccagaggatcgattgaaccagggagatcatggtcacagtgaactatgattacgccaacctgggtcacatagcaagactctgtttcaaaaaaaaagggggggcgggggacgggtgggtgcagtggctcacatctgtaaccccagcactttgggaggctgagatgggcagatcacttgaggtcaggagttcgagaccagcctggccaacatggtgaaaccccatatccattaaaaatatttaaaaattagccagacatggtggcacgcgtctgtggtcctagctcctcgggaggctgaggcaggagaatcgcttgaactcgggaggcagaggttgtcatgagctgagctaacaccacggcacttcagcctgggtgacagaatgagactctgtgtcaaaaaaataaaaaataaaaaatctaagggctcaggaaccagtttggacttgattttgaatcccagttcatccccttcctagctgtatgaccttgattgtgtgccttaaccgctctgtgacacagtctacctgtctgcaaaatgggaaacataatacctgccatcaggattgttgaggagtaaataaatggaaattggtgaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1777 -> Molecular function: GO:0003677 [DNA binding] evidence: TAS
GeneID:1777 -> Molecular function: GO:0004531 [deoxyribonuclease II activity] evidence: IEA
GeneID:1777 -> Biological process: GO:0006259 [DNA metabolic process] evidence: TAS
GeneID:1777 -> Biological process: GO:0006308 [DNA catabolic process] evidence: IEA
GeneID:1777 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:1777 -> Biological process: GO:0030218 [erythrocyte differentiation] evidence: IEA
GeneID:1777 -> Cellular component: GO:0005764 [lysosome] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001366 -> EC 3.1.22.1
by
@meso_cacase at
DBCLS
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