ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)

2016-10-01  

Identity

HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
ADAM-TS2,ADAMTS-2,ADAMTS-3,EDSDERMS,NPI,PC
FUSION GENES

Other Information

Locus ID:

NCBI: 9509
MIM: 604539
HGNC: 218
Ensembl: ENSG00000087116

Variants:

dbSNP: 9509
ClinVar: 9509
TCGA: ENSG00000087116
COSMIC: ADAMTS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087116ENST00000251582O95450
ENSG00000087116ENST00000274609O95450
ENSG00000087116ENST00000518335A0A1B0GTY3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153737692004Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.34
160463922005Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V.26
258631612015The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology.25
205746512010ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity.20
222051752012Expression of ADAMTS-2, -3, -13, and -14 in culprit coronary lesions in patients with acute myocardial infarction or stable angina.6
256742172014Gene expression profiling of craniofacial fibrous dysplasia reveals ADAMTS2 overexpression as a potential marker.5
267653422016Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.5
117888982002Human thrombospondin 2 inhibits proliferation of microvascular endothelial cells.3
303886112018The role of ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of uterosacral and cardinal ligaments in the etiopathogenesis of pelvic organ prolapse among women without stress urinary incontinence.1
247523522014IL-6 upregulates a disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAMTS-2) in human osteosarcoma cells mediated by JNK pathway.0

Citation

Dessen P

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56454/adamts2