ADAMTS20 (ADAM metallopeptidase with thrombospondin type 1 motif 20)

2007-04-01 Affiliation

Identity

HGNC

ADAMTS20

LOCATION

12q12

LOCUSID

80070

ALIAS

ADAM-TS20,ADAMTS-20,GON-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000173157	ENST00000389420	P59510
ENSG00000173157	ENST00000395541	E9PBD5
ENSG00000173157	ENST00000549670	H0YHN3
ENSG00000173157	ENST00000553158	G3V1X8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
O-linked glycosylation	REACTOME	R-HSA-5173105
O-glycosylation of TSR domain-containing proteins	REACTOME	R-HSA-5173214
Disease	REACTOME	R-HSA-1643685
Diseases of glycosylation	REACTOME	R-HSA-3781865
Diseases associated with O-glycosylation of proteins	REACTOME	R-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)	REACTOME	R-HSA-5083635

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37169079	2023	Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.	1
37169079	2023	Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.	1
30814516	2019	Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.	28
30814516	2019	Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.	28
25798845	2015	Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.	53
25798845	2015	Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.	53
20221248	2010	Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.	50
20221248	2010	Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.	50
12514189	2003	Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1.	117
12562771	2003	Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain.	38
12514189	2003	Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1.	117
12562771	2003	Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain.	38

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-(adam-metallopeptidase-with-thrombospondin-type-1-motif-20)