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: 170691
MIM: 607511
HGNC: 17109
Ensembl: ENSG00000140470
Variants:
dbSNP: 170691
ClinVar: 170691
TCGA: ENSG00000140470
COSMIC: ADAMTS17
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000140470 | ENST00000268070 | Q8TE56 |
| ENSG00000140470 | ENST00000558960 | H0YMH1 |
| ENSG00000140470 | ENST00000561355 | H3BV94 |
| ENSG00000140470 | ENST00000568565 | H3BRA9 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36810712 | 2023 | The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population. | 0 |
| 36966180 | 2023 | A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. | 1 |
| 37506754 | 2023 | Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome. | 0 |
| 36810712 | 2023 | The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population. | 0 |
| 36966180 | 2023 | A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. | 1 |
| 37506754 | 2023 | Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome. | 0 |
| 31726086 | 2020 | A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. | 22 |
| 32616716 | 2020 | A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. | 7 |
| 31726086 | 2020 | A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. | 22 |
| 32616716 | 2020 | A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. | 7 |
| 31019231 | 2019 | A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. | 8 |
| 31019231 | 2019 | A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. | 8 |
| 28176809 | 2017 | Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. | 42 |
| 28176809 | 2017 | Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. | 42 |
| 24906090 | 2014 | Sp1 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
