ADAMTS2 Chromosome 5

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

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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
RS1023653032 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS112155474 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1174228917 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1196360635 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1200659345 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1210414674 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1365580904 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS138564815 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS139249329 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS140022033 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS140621260 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS1407363425 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS141348218 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS141650732 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS141661592 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS143764421 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS144078893 Health Risk Conflicting classifications of pathogenicity ADAMTS2-related disorder, Inborn genetic diseases, ADAMTS2-related disorder
RS144138766 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS1450097151 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS145016043 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS145109914 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS147259971 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1480092350 Health Risk Conflicting classifications of pathogenicity —
RS149708395 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS150047440 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS150079799 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS150535792 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS150989902 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS151261888 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS1764038673 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS182103023 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS188566209 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS193247334 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS199617528 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS199664723 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS200210415 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related disorder
RS200806292 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS201215425 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS201390756 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS201998372 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Clear cell carcinoma of kidney
RS367553801 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS368221089 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS368363548 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS369654932 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS370679548 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Inborn genetic diseases
RS370747086 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS372103269 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS372661052 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS374180760 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
RS374288519 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type, Ehlers-Danlos syndrome
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