Gene: ADAMTS8

Alternate names for this Gene: ADAM-TS8|METH2

Gene Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family 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 enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.3

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 8

Type of Gene: protein-coding

rs4936098 in ADAMTS8 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs61754851 in ADAMTS8 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs56009602 in ADAMTS8 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs7931326 in ADAMTS8 gene and Regular astigmatism - corneal PMID 30306274 2018 Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

rs55796939 in ADAMTS8 gene and Tonometry PMID 28073927 2017 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

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