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1777 DNASE2

1777

DNASE2

deoxyribonuclease 2, lysosomal

protein-coding

Homo sapiens

基因描述

Type Description
Definition deoxyribonuclease 2, lysosomal

研究结论

Date Results Publications
2020-02-15 10:09:00 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. 31022206
2019-03-09 11:01:00 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. 28743926
2018-10-06 12:10:00 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. 29259162
2017-04-01 11:36:00 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. 27116004
2014-07-12 12:18:00 15 nonsynonymous human DNase II SNPs were genotyped in three ethnic groups including 16 different populations using the PCR-restriction fragment length polymorphism technique. 24242851

名称对应

Type IDs
Synonymous DNASE2A, DNL, DNL2
Gene
UniProtKB-ID: DNS2A_HUMAN, A0A024R7F4_HUMAN
UniprotKB: O00115, A0A024R7F4
UniParc: UPI0001914EA6, UPI000012988A
EMBL: BC065209, AK297493, AC020934, AF047016, AD000092, AF045937, AF060222, AB004574, AK315358, BT007047, CH471106, BC010419, AB008564
Ensembl: ENSG00000105612
KO: hsa:1777
Nucleutide sequences
EMBL-CDS: BAG37753.1, EAW84320.1, AAH65209.1, AAC77366.1, AAB51172.1, BAB55598.1, AAC35751.1, BAA28623.1, BAH12592.1, AAH10419.3, AAP35696.1, AAC39852.1, EAW84322.1
Gene_ORFName: hCG_172486
Ensembl_TRS: ENST00000222219
Protein sequencees
Ensembl_PRO: ENSP00000222219
RefSeq: NP_001366.1
Others
UniRef100: UniRef100_O00115
UniRef90: UniRef90_O00115
UniRef50: UniRef50_O00115
UniGene: Hs.118243
CCDS: CCDS12284.1

全选

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