ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17)

2014-08-01  

Identity

HGNC
LOCATION
15q26.3
LOCUSID
ALIAS
WMS4
FUSION GENES

Other Information

Locus ID:

NCBI: 170691
MIM: 607511
HGNC: 17109
Ensembl: ENSG00000140470

Variants:

dbSNP: 170691
ClinVar: 170691
TCGA: ENSG00000140470
COSMIC: ADAMTS17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140470ENST00000268070Q8TE56
ENSG00000140470ENST00000558960H0YMH1
ENSG00000140470ENST00000561355H3BV94
ENSG00000140470ENST00000568565H3BRA9

Expression (GTEx)

0
1
2
3
4
5
6
7

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

References

Pubmed IDYearTitleCitations
198360092009Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.65
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
281768092017Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.14
249400342014Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.10
249400342014Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.10
224863252012Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.8
202009782010Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.7
210375092010Variants of ADAMTS1 modify the effectiveness of statins in reducing the risk of myocardial infarction.4

Citation

Dessen P

ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54106/adamts17