ADAMTS16 (ADAM metallopeptidase with thrombospondin type 1 motif 16)

2007-04-01  

Identity

HGNC
LOCATION
5p15.32
LOCUSID
ALIAS
ADAMTS16s
FUSION GENES

Other Information

Locus ID:

NCBI: 170690
MIM: 607510
HGNC: 17108
Ensembl: ENSG00000145536

Variants:

dbSNP: 170690
ClinVar: 170690
TCGA: ENSG00000145536
COSMIC: ADAMTS16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145536ENST00000274181Q8TE57
ENSG00000145536ENST00000511368Q2XQZ0

Expression (GTEx)

0
5
10
15
20

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
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
194235522009Positional identification of variants of Adamts16 linked to inherited hypertension.31
165073362006Glycosaminoglycan-binding properties and aggrecanase activities of truncated ADAMTSs: comparative analyses with ADAMTS-5, -9, -16 and -18.29
175193242007FSH stimulates the expression of the ADAMTS-16 protease in mature human ovarian follicles.18
196355542009Characterization and regulation of ADAMTS-16.14
225622322012Regulation of aggrecanases from the ADAMTS family and aggrecan neoepitope formation during in vitro chondrogenesis of human mesenchymal stem cells.13
243662832014Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure.8
300818522018Aberrant DNA methylation of ADAMTS16 in colorectal and other epithelial cancers.4
287903702017Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.3
280882712017ADAMTS-3, -13, -16, and -19 levels in patients with habitual abortion.2

Citation

Dessen P

ADAMTS16 (ADAM metallopeptidase with thrombospondin type 1 motif 16)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47206/adamts16