ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3)

2007-04-01  

Identity

HGNC
LOCATION
4q13.3
LOCUSID
ALIAS
ADAMTS-4,HKLLS3
FUSION GENES

Other Information

Locus ID:

NCBI: 9508
MIM: 605011
HGNC: 219
Ensembl: ENSG00000156140

Variants:

dbSNP: 9508
ClinVar: 9508
TCGA: ENSG00000156140
COSMIC: ADAMTS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156140ENST00000286657O15072
ENSG00000156140ENST00000622135O15072

Expression (GTEx)

0
1
2
3
4
5
6

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
258631612015The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology.25
289853532017Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.11
222051752012Expression of ADAMTS-2, -3, -13, and -14 in culprit coronary lesions in patients with acute myocardial infarction or stable angina.6
157088972005Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.4
280882712017ADAMTS-3, -13, -16, and -19 levels in patients with habitual abortion.2
304507632018An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.2
118310302001[ADAMTS family--new extracellular matrix degrading enzyme].1
287964142018Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival.1
295185492018SP1-mediated downregulation of ADAMTS3 gene expression in osteosarcoma models.1

Citation

Dessen P

ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47092/adamts3