ADAMTS2 Chromosome 5
ADAM metallopeptidase with thrombospondin type 1 motif 2
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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 |
|---|---|---|---|
| RS2480190797 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480195718 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480196236 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480196300 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480234536 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480234649 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480240157 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480242550 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480257191 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532189765 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532189921 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193039 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193169 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193709 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193871 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS371099308 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS747653130 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS748340868 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS752433735 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS754044289 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS916172129 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS966437723 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1171795845 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1242279733 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS137853147 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1554124086 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1757906798 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113218754 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113223246 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532190478 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS747447840 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS758599662 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |