Reviewed November 2015
What is the official name of the ADAMTS2 gene?
The official name of this gene is “ADAM metallopeptidase with thrombospondin type 1 motif 2.”
ADAMTS2 is the gene's official symbol. The ADAMTS2 gene is also known by other names, listed below.
What is the normal function of the ADAMTS2 gene?
The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells that add strength, support, and stretchiness (elasticity) to many body tissues. The ADAMTS2 enzyme cuts a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils.
Does the ADAMTS2 gene share characteristics with other genes?
The ADAMTS2 gene belongs to a family of genes called ADAMTS (ADAMTS metallopeptidase with thrombospondin type 1 motif).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the ADAMTS2 gene related to health conditions?
- Ehlers-Danlos syndrome - caused by mutations in the ADAMTS2 gene
Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. The dermatosparaxis type is characterized by soft, fragile skin that sags and wrinkles; easy bruising; and distinctive facial features.
Mutations in the ADAMTS2 gene greatly reduce the production or activity of the ADAMTS2 enzyme. Without enough of this enzyme, procollagens cannot be processed correctly. As a result, collagen fibrils are not assembled properly. The resulting fibrils are disorganized, which weakens connective tissues and leads to the signs and symptoms of the disorder.
Where is the ADAMTS2 gene located?
Cytogenetic Location: 5qter
Molecular Location on chromosome 5: base pairs 179,110,851 to 179,345,430
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/9509))
The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminus) of the arm.
More precisely, the ADAMTS2 gene is located from base pair 179,110,851 to base pair 179,345,430 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ADAMTS2?
You and your healthcare professional may find the following resources about ADAMTS2 helpful.
Educational resources - Information pages
- Molecular Biology of the Cell (fourth edition, 2002): After Secretion, Fibrillar Procollagen Molecules Are Cleaved to Collagen Molecules, Which Assemble into Fibrils (http://www.ncbi.nlm.nih.gov/books/NBK26810/)
- Molecular Cell Biology (fourth edition, 2000): Collagen: The Fibrous Proteins of the Matrix (http://www.ncbi.nlm.nih.gov/books/NBK21582/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ADAMTS2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9509%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28ADAMTS2%5BTIAB%5D%29%20OR%20%28%28procollagen%20I%20N-proteinase%5BTIAB%5D%29%20OR%20%28Procollagen%20N-endopeptidase%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604539)
Research Resources - Tools for researchers
- Ehlers-Danlos Syndrome Variant Database (https://eds.gene.le.ac.uk/home.php?select_db=ADAMTS2)
- HGNC Gene Family: ADAM metallopeptidases with thrombospondin type 1 motif (http://www.genenames.org/cgi-bin/genefamilies/set/50)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=218)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9509)
What other names do people use for the ADAMTS2 gene or gene products?
- ADAM metallopeptidase with thrombospondin type 1 motif, 2
- a disintegrin and metalloproteinase with thrombospondin motifs 2
- a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
- procollagen I/II amino-propeptide processing enzyme
- procollagen I N-proteinase
- procollagen N-endopeptidase
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ADAMTS2?
You may find definitions for these and many other terms in the Genetics Home Reference
- Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol. 2004 Oct;123(4):656-63. (http://www.ncbi.nlm.nih.gov/pubmed/15373769?dopt=Abstract)
- Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999 Aug;65(2):308-17. (http://www.ncbi.nlm.nih.gov/pubmed/10417273?dopt=Abstract)
- Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet. 2011 Oct 15;20(R2):R163-7. doi: 10.1093/hmg/ddr361. Epub 2011 Aug 31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21880666?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9509)
- Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS. Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. J Biol Chem. 2003 May 23;278(21):19549-57. Epub 2003 Mar 19. (http://www.ncbi.nlm.nih.gov/pubmed/12646579?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.