Gene: ADAMTS17

Alternate names for this Gene: WMS4

Gene Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.3

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 17

Type of Gene: protein-coding

rs4988781 in ADAMTS17 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs145482150 in ADAMTS17 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs72755233 in ADAMTS17 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72755233 in ADAMTS17 gene and Carpal Tunnel Syndrome PMID 30833571 2019 A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

rs4533267 in ADAMTS17 gene and Height PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs2086452 in ADAMTS17 gene and Osteosarcoma PMID 23727862 2013 Genome-wide association study identifies two susceptibility loci for osteosarcoma.

rs72755233 in ADAMTS17 gene and Tonometry PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.