The ADAMTS2 gene homepage

Ehlers Danlos Syndrome Variant Database

General information
Gene symbol ADAMTS2
Gene name ADAM metallopeptidase with thrombospondin type 1 motif, 2
Chromosome 5
Chromosomal band q35.3
Imprinted Unknown
Genomic reference NG_023212.3
Transcript reference NM_014244.4
Exon/intron information NM_014244.4 exon/intron table
Associated with diseases dermatosparaxis, EDS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 92
Unique public DNA variants reported 73
Individuals with public variants 70
Hidden variants 5
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created September 13, 2012
Date last updated February 08, 2021
Version ADAMTS2:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014244.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 218
Entrez Gene 9509
PubMed articles ADAMTS2
OMIM - Gene 604539
OMIM - Diseases dermatosparaxis (Dermatosparaxis)
GeneCards ADAMTS2
GeneTests ADAMTS2
Orphanet ADAMTS2

Active transcripts




NCBI ID     

NCBI Protein ID     

00001306 5 transcript variant 1 NM_014244.4 NP_055059.2 92

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.