DNASE2 cDNA ORF clone, Homo sapiens(human)

Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Fr?mond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, 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, Crow YJ
Nature communications8(1)2176(2017 Dec)

Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA degradation during epidermal cornification and results in constitutive parakeratosis.
Fischer H, Buchberger M, Napirei M, Tschachler E, Eckhart L
Scientific reports7(1)6433(2017 Jul)

Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity.
Fujihara J, Ueki M, Kimura-Kataoka K, Iida R, Takeshita H, Yasuda T
Immunological investigations45(5)406-19(2016 Jul)

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L, Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K, Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M, Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J, Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL, Lieberman JA, Daly MJ, Sullivan PF
Nature communications54757(2014 Sep)

Seven nonsynonymous SNPs in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction.
Kimura-Kataoka K, Ueki M, Takeshita H, Fujihara J, Iida R, Kato H, Yasuda T
Electrophoresis34(24)3361-9(2013 Dec)

Single nucleotide polymorphisms producing a loss-of-function variant of the enzymes in DNASE1, DNASE1L3, and DNASE2, possibly serving as a genetic risk factor for autoimmune diseases, were confirmed.
Title: Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity.

15 nonsynonymous human DNase II SNPs were genotyped in three ethnic groups including 16 different populations using the PCR-restriction fragment length polymorphism technique.
Title: Seven nonsynonymous SNPs in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction.

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.
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.

Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis.

the enzyme is a monomeric phospholipase D-family member with a pseudodimeric protein fold
Title: Human lysosomal DNase IIalpha contains two requisite PLD-signature (HxK) motifs: evidence for a pseudodimeric structure of the active enzyme species.