ADAMTS20 (ADAM metallopeptidase with thrombospondin type 1 motif 20)

2007-04-01  

Identity

HGNC
LOCATION
12q12
LOCUSID
ALIAS
ADAM-TS20,ADAMTS-20,GON-1
FUSION GENES

Other Information

Locus ID:

NCBI: 80070
MIM: 611681
HGNC: 17178
Ensembl: ENSG00000173157

Variants:

dbSNP: 80070
ClinVar: 80070
TCGA: ENSG00000173157
COSMIC: ADAMTS20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173157ENST00000389420P59510
ENSG00000173157ENST00000395541E9PBD5
ENSG00000173157ENST00000549670H0YHN3
ENSG00000173157ENST00000553158G3V1X8

Expression (GTEx)

0
1

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
125141892003Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1.92
257988452015Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.37
202212482010Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.36
125627712003Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain.34
308145162019Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.3

Citation

Dessen P

ADAMTS20 (ADAM metallopeptidase with thrombospondin type 1 motif 20)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46674/adamts20