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9719 ADAMTSL2

9719

ADAMTSL2

ADAMTS like 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition ADAMTS like 2

研究结论

Date Results Publications
2020-05-09 12:33:00 Findings postulate that abnormal fibrillin microfibril assembly is the general molecular basis of geleophysic dysplasia, and the specific role of ADAMTSL2 may be to inhibit microfibril assembly, whether it be assembly of FBN2 fibrils in the embryonic period or FBN1 fibrils in tendons during the postnatal period. 30738849
2019-06-22 15:09:00 Upon investigating the interaction between LOX and ADAMTSL2 we found that the absence or inhibition of Lox affected ADAMTSL2 molecular forms and reduced its tissue levels. Thus, ADAMTSL2 stability and inter-molecular complexes may depend on the activity of lysyl oxidases. 29758265
2018-10-13 10:28:00 CpG-specific DNA methylation of ADAMTSL2 and BTN3A2 at rheumatoid arthritis diagnosis can serve as a marker of treatment response. 28447857
2018-03-31 10:39:00 Two compound heterozygous mutations were confirmed in the ADAMTSL2 gene of the patient with geleophysic dysplasia. 28917829
2016-10-29 10:19:00 A novel mutation in ADAMTSL2 (p. Gly421Ser) gene was identified in individuals with Ehlers-Danlos Syndrome. 26879370

名称对应

Type IDs
Synonymous ADAMTSL-2, GPHYSD1
Gene
UniProtKB-ID: ATL2_HUMAN
UniprotKB: Q86TH1
UniParc: UPI000018CEA2
EMBL: BX629352, AB011177, BX649571, BX324209, BC050544
Ensembl: ENSG00000197859
KO: hsa:9719
Nucleutide sequences
EMBL-CDS: BAA25531.2, AAH50544.1
Ensembl_TRS: ENST00000651351, ENST00000354484, ENST00000393060
Protein sequencees
Ensembl_PRO: ENSP00000498961, ENSP00000376780, ENSP00000346478
RefSeq: NP_001138792.1, NP_055509.2, XP_005272295.1, XP_011517543.2, XP_005272296.1, XP_011517544.1
Others
UniRef100: UniRef100_Q86TH1
UniRef90: UniRef90_Q86TH1
UniRef50: UniRef50_Q86TH1
UniGene: Hs.522543
CCDS: CCDS6976.1

全选

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