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 |
|---|---|---|---|
| RS1336175305 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1417947464 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1453785436 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1554123627 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1554125059 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1762893262 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1763059235 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113199896 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113200020 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113374735 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480148505 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480172020 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480242710 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480242738 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480242747 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480245757 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480257419 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480319482 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480414670 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480416655 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532189832 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532189944 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532190018 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532190870 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193077 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193653 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193677 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193734 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193799 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2532193805 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS754157433 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS933381749 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1160288604 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS137853146 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1581302068 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1757915135 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1762828499 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1762930637 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1763406117 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1764730959 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS1764738425 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113190301 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113200198 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2113513390 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2127463403 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2127463432 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2127463933 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480148186 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480148279 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |
| RS2480190517 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome |