ADAMTS2 Chromosome 5

ADAM metallopeptidase with thrombospondin type 1 motif 2
182 variants 182 Health Risk

Upload your DNA to see your personal genotypes for variants in ADAMTS2.

What This Gene Does
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. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000087116
Associated Conditions (10)
Ehlers-Danlos syndrome
dermatosparaxis type
Inborn genetic diseases
ADAMTS2-related disorder
Clear cell carcinoma of kidney
Sarcoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Key Variants
RS1023653032
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS112155474
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS1174228917
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS1196360635
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS1200659345
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS1210414674
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS1365580904
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS138564815
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS139249329
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS140022033
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
Health Risk
RS140621260
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
Health Risk
RS1407363425
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
Health Risk
All Variants (182)
RSID Category Clinical Significance Conditions
RS375191740 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS375345961 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS375556579 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS376058580 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS376602983 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS376820857 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS41285549 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS535594659 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS543859669 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS546361762 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS546681307 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS547548078 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS557019144 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS565885690 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS567635584 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS568040559 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS569510744 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS745407557 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS751895494 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS752223388 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS752737484 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS753246905 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS755099137 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS755961602 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS758419331 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS759056190 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS760424301 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS763392299 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS764259203 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS768036305 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS769689633 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS770212030 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS775509290 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS776592829 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Thyroid cancer
RS777279065 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS778572930 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS780314895 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS780603629 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS781630569 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS79606317 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS886060490 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS886060491 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS886060495 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS886060496 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS886060497 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1057517277 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1182409555 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1217606886 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1226951327 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1290985047 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
« Prev 1 2 3 4 Next »
Sign Up to Analyze Your DNA Log In