Gene: ADAMTS2

Alternate names for this Gene: ADAM-TS2|ADAMTS-2|ADAMTS-3|EDSDERMS|NPI|PC I-NP|PCI-NP|PCINP|PCPNI|PNPI

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 procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 2

Type of Gene: protein-coding

rs888762 in ADAMTS2 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs35751 in ADAMTS2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35028368 in ADAMTS2 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.

rs1057517277 in ADAMTS2 gene and EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE PMID 23495203 2013 Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.

PMID 8215497 1993 Dermatosparaxis in children. A case report and review of the newly recognized phenotype.

PMID 8986271 1997 Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.

PMID 7735500 1995 The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

PMID 18973246 2008 Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

PMID 1642226 1992 Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

PMID 10417273 1999 Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

PMID 15389701 2004 The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

rs1863918 in ADAMTS2 gene and Hepatitis C, Chronic PMID 27723809 2016 Genome-Wide Association Study Identifies ZNF354C Variants Associated with Depression from Interferon-Based Therapy for Chronic Hepatitis C.

rs10447301 in ADAMTS2 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.