ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17)

2014-08-01   Dessen P  

Identity

HGNC
ADAMTS17
LOCATION
15q26.3
LOCUSID
170691
ALIAS
WMS4
FUSION GENES
Show Gene Fusions

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
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

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
368107122023The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.0
369661802023A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.1
375067542023Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.0
368107122023The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.0
369661802023A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.1
375067542023Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.0
317260862020A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.22
326167162020A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.7
317260862020A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.22
326167162020A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.7
310192312019A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.8
310192312019A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.8
281768092017Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.42
281768092017Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.42
249060902014Sp1 is necessary for gene activation of Adamts17 by estrogen.6

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-(adam-metallopeptidase-with-thrombospondin-type-1-motif-17)