DNASE1L2 - deoxyribonuclease 1 like 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1775 DNASE1L2

基因描述

Type	Description
Definition	deoxyribonuclease 1 like 2

研究结论

Date	Results	Publications
2017-09-02 12:52:00	Study surveyed the non-synonymous SNPs of DNASE1L2: 19 SNPs originating from frameshift/nonsense mutations found in DNASE1L2 resulted in loss of function of the enzyme. Thus, the present findings suggest that each of the minor alleles for these SNPs may serve as one of genetic risk factors for parakeratotic skin diseases such as psoriasis, even though they lack a worldwide genetic distribution.	28394916
2015-06-20 10:38:00	DNASE1L2 is generally well conserved with regard to the non-synonymous single nucleotide polymorphisms, thereby avoiding any marked reduction of the enzyme activity in human populations.	25576224
2013-06-29 12:40:00	Genotyping of 17 SNPs in the human deoxyribonuclease I-like 2 gene was performed using the PCR-RFLP method in three ethnic groups including 14 different populations.	23161465
2010-12-11 10:23:00	Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated.	20967767
2010-12-05 22:08:00	Observational study of genotype prevalence. (HuGE Navigator)	20967767

名称对应

Type	IDs
Synonymous	DNAS1L2
Gene	UniProtKB-ID: DNSL2_HUMAN UniprotKB: Q92874 UniParc: UPI000012935A, UPI00003779EC EMBL: U62647, BC063710, AC009065, AY298957, AK098028, AY298958, BC035205, CH471112 Ensembl: ENSG00000167968 KO: hsa:1775
Nucleutide sequences	EMBL-CDS: EAW85526.1, AAQ73761.1, AAQ73760.1, AAH35205.1, AAH63710.1, EAW85527.1, EAW85529.1, AAB63981.1, AAQ73759.1, BAG53566.1, EAW85528.1 Ensembl_TRS: ENST00000613572, ENST00000564065, ENST00000567494, ENST00000320700, ENST00000382437
Protein sequencees	Ensembl_PRO: ENSP00000371874, ENSP00000482627, ENSP00000454562, ENSP00000316938, ENSP00000455358 RefSeq: NP_001365.1, NP_001288609.1
Others	UniRef100: UniRef100_Q92874 UniRef90: UniRef90_Q92874 UniRef50: UniRef50_Q92874 UniGene: Hs.103503 CCDS: CCDS42105.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
28394916	Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis. PLoS ONE Misuzu Ueki , Haruo Takeshita , Natsuko Utsunomiya , Takanao Chino , Noritaka Oyama , Minoru Hasegawa , Kaori Kimura-Kataoka , Junko Fujihara , Reiko Iida , Toshihiro Yasuda	2017-01-01	-
26186194	The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin WÃ¼hr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi	2015-07-16	-
25576224	Identification of functional SNPs potentially served as a genetic risk factor for the pathogenesis of parakeratosis in the gene encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in terminal differentiation of keratinocytes. Gene Misuzu Ueki , Haruo Takeshita , Kaori Kimura-Kataoka , Junko Fujihara , Reiko Iida , Toshihiro Yasuda	2015-04-25	DNASE1L2
23161465	Five non-synonymous SNPs in the gene encoding human deoxyribonuclease I-like 2 implicated in terminal differentiation of keratinocytes reduce or abolish its activity. Electrophoresis Misuzu Ueki , Junko Fujihara , Kaori Kimura-Kataoka , Haruo Takeshita , Reiko Iida , Toshihiro Yasuda	2013-02-01	DNASE1L2
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
20967767	Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes. Electrophoresis Junko Fujihara , Toshihiro Yasuda , Reiko Iida , Kaori Kimura-Kataoka , Mikiko Soejima , Yoshiro Koda , Hideaki Kato , Arturo Panduro , Isao Yuasa , Haruo Takeshita	2010-10-01	DNASE1L1, DNASE1L2
20503202	Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes. Electrophoresis Misuzu Ueki , Junko Fujihara , Haruo Takeshita , Kaori Kimura-Kataoka , Reiko Iida , Tamiko Nakajima , Yoshihiko Kominato , Isao Yuasa , Toshihiro Yasuda	2010-06-01	DNASE1L1, DNASE1L2
17490414	Terminal differentiation of nail matrix keratinocytes involves up-regulation of DNase1L2 but is independent of caspase-14 expression. Differentiation Karin JÃ¤ger , Heinz Fischer , Erwin Tschachler , Leopold Eckhart	2007-12-01	DNASE1L2
17474147	Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. Proteomics Chenggang Wu , Mike Haiting Ma , Kevin R Brown , Matt Geisler , Lei Li , Eve Tzeng , Christina Y H Jia , Igor Jurisica , Shawn S-C Li	2007-06-01	HDAC6, HCN4, CHAF1A, CDH11, PRG4, HNRNPR, SF3B4, EFS, TRAIP, SEC24B, RPP38, CENPA, TGOLN2, CELF2, PNMA2, ZNF274, EHMT2, FASTK, BAZ2A, MAP4K5, MAP4K1, AKAP2, NXPH3, GPR45, CSMD2, OSBPL5, CNTFR, UHMK1, DUSP15, ALS2CR12, CRK, CRYBB3, CSF2RA, DAB2, DAG1, DARS, GSX2, ASXL1, DLG4, DLX4, DNM1, AGER, DNASE1L2, DNM2, DOCK1, DOCK3, ABAT, DTX1, ECT2, EFNA5, CELSR3, CELSR2, AHSG, ELK3, EPS15, EXTL1, EXTL3, F2RL2, FANCA, FCGR2B, DLGAP4, CD93, SHANK2, FOXF2, TPX2, RIMS1, SPEN, FOXJ1, TNIK, CUL9, NFASC, EPB41L3, FLNA, FLNB, FLNC, VPS13A, SASH1, AFF2, ADNP, BRD4, TGDS, CD2AP, NR5A1, ABL1, FYB, FYN, GABBR1, GABRA3, GAD1, NELFB, MYRIP, DNM3, OPTC, HIBCH, GCDH, GHR, NBEA, RPUSD2, DKKL1

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