ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)

2007-04-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
ADAM-TS10,ADAMTS-10,WMS,WMS1
FUSION GENES

Other Information

Locus ID:

NCBI: 81794
MIM: 608990
HGNC: 13201
Ensembl: ENSG00000142303

Variants:

dbSNP: 81794
ClinVar: 81794
TCGA: ENSG00000142303
COSMIC: ADAMTS10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142303ENST00000270328A0A0A0MQW6
ENSG00000142303ENST00000593826M0QY12
ENSG00000142303ENST00000593913M0QY36
ENSG00000142303ENST00000595838Q9H324
ENSG00000142303ENST00000596851M0QY36
ENSG00000142303ENST00000597188A0A0A0MQW6

Expression (GTEx)

0
10
20
30
40
50
60
70

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
153681952004ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.78
198360092009Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.65
214026942011ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.44
153559682004Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation.26
185670162008Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.19
153585982005ADAM-15 inhibits wound healing in human intestinal epithelial cell monolayers.16
277792342016ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions.16
234228232013Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles.8
196967952009Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.3

Citation

Dessen P

ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46725/adamts10