ADAMTS6 (ADAM metallopeptidase with thrombospondin type 1 motif 6)

2007-04-01  

Identity

HGNC
LOCATION
5q12.3
LOCUSID
ALIAS
ADAM-TS

Other Information

Locus ID:

NCBI: 11174
MIM: 605008
HGNC: 222
Ensembl: ENSG00000049192

Variants:

dbSNP: 11174
ClinVar: 11174
TCGA: ENSG00000049192
COSMIC: ADAMTS6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049192ENST00000381052Q9UKP5
ENSG00000049192ENST00000381055Q9UKP5

Expression (GTEx)

0
5
10
15

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
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
266865532015A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.17
277792342016ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions.16
161295702005Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control.5
300122202018Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.5
185797252008Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.4
275422242016ADAMTS6 suppresses tumor progression via the ERK signaling pathway and serves as a prognostic marker in human breast cancer.2
294750362018ADAMTS-6 is a predictor of poor prognosis in patients with esophageal squamous cell carcinoma.2

Citation

Dessen P

ADAMTS6 (ADAM metallopeptidase with thrombospondin type 1 motif 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47282/adamts6