From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ADAMTS2 Identifiers
Aliases
ADAMTS2 , ADAM-TS2, ADAMTS-2, ADAMTS-3, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI, ADAM metallopeptidase with thrombospondin type 1 motif 2, EDSDERMSExternal IDs
OMIM :
604539 ;
MGI :
1347356 ;
HomoloGene :
8597 ;
GeneCards :
ADAMTS2 ;
OMA :
ADAMTS2 - orthologs
Wikidata
A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase (PC I-NP) is an
enzyme
[4] that in humans is encoded by the ADAMTS2
gene .
[5]
[6]
Gene
The ADAMTS2 gene is located on the long (q) arm of
chromosome 5 at the end (terminus) of the arm, from
base pair 178,473,473 to base pair 178,704,934.
Function
ADAMTS2 is responsible for processing several types of
procollagen
proteins . Procollagens are the precursors of
collagens , the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of
amino acids off one end of the procollagen. This clipping step is necessary for collagen molecules to function normally and assemble into fibrils outside cells.
Clinical significance
Ehlers-Danlos syndrome , dermatosparaxis type is caused by
mutations in the ADAMTS2 gene.
[6] Several mutations in the ADAMTS2 gene have been identified in people with this syndrome. These mutations greatly reduce the production of the enzyme made by the ADAMTS2 gene. Procollagen cannot be processed correctly without this enzyme. As a result, collagen fibrils are not assembled properly; they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also affected. These defects weaken connective tissue (the tissue that binds and supports the body's muscles, ligaments, organs, and skin), which causes the signs and symptoms of the disorder.
See also
References
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000036545 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Tang BL, Hong W (February 1999).
"ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats" . FEBS Lett . 445 (2–3): 223–5.
doi :
10.1016/S0014-5793(99)00119-2 .
PMID
10094461 .
S2CID
37955930 .
^
"Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif" .
^
a
b 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 (October 2004).
"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 . 123 (4): 656–63.
doi :
10.1111/j.0022-202X.2004.23406.x .
PMID
15373769 . [
permanent dead link ]
Further reading
Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS (May 2003).
"Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase" . J. Biol. Chem . 278 (21): 19549–57.
doi :
10.1074/jbc.M300767200 .
PMID
12646579 .
Reardon W, Winter RM, Smith LT, et al. (1995). "The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)". Clin. Dysmorphol . 4 (1): 1–11.
doi :
10.1097/00019605-199501000-00001 .
PMID
7735500 .
S2CID
2412884 .
Colige A, Vandenberghe I, Thiry M, et al. (2002).
"Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3" . J. Biol. Chem . 277 (8): 5756–66.
doi :
10.1074/jbc.M105601200 .
PMID
11741898 .
Kevorkian L, Young DA, Darrah C, et al. (2004).
"Expression profiling of metalloproteinases and their inhibitors in cartilage" . Arthritis Rheum . 50 (1): 131–41.
doi :
10.1002/art.11433 .
PMID
14730609 .
Hurskainen TL, Hirohata S, Seldin MF, Apte SS (1999).
"ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family" . J. Biol. Chem . 274 (36): 25555–63.
doi :
10.1074/jbc.274.36.25555 .
PMID
10464288 .
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006).
"Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65.
doi :
10.1101/gr.4039406 .
PMC
1356129 .
PMID
16344560 .
Dubail J, Kesteloot F, Deroanne C, et al. (2010).
"ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity" (PDF) . Cellular and Molecular Life Sciences . 67 (24): 4213–32.
doi :
10.1007/s00018-010-0431-6 .
hdl :
2268/73235 .
PMID
20574651 .
S2CID
20047628 . Archived from
the original (PDF) on 2022-02-26. Retrieved 2019-09-26 .
Colige A, Sieron AL, Li SW, et al. (1999).
"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 . 65 (2): 308–17.
doi :
10.1086/302504 .
PMC
1377929 .
PMID
10417273 .
Hartley JL, Temple GF, Brasch MA (2000).
"DNA Cloning Using In Vitro Site-Specific Recombination" . Genome Res . 10 (11): 1788–95.
doi :
10.1101/gr.143000 .
PMC
310948 .
PMID
11076863 .
Tang BL (2001). "ADAMTS: a novel family of extracellular matrix proteases". Int. J. Biochem. Cell Biol . 33 (1): 33–44.
doi :
10.1016/S1357-2725(00)00061-3 .
PMID
11167130 .
Lasky-Su J, Anney RJ, Neale BM, et al. (2008).
"Genome-wide association scan of the time to onset of Attention Deficit Hyperactivity Disorder" . Am. J. Med. Genet. B Neuropsychiatr. Genet . 147B (8): 1355–8.
doi :
10.1002/ajmg.b.30869 .
PMC
2605611 .
PMID
18937294 .
Colige A, Ruggiero F, Vandenberghe I, et al. (2005).
"Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V" . J. Biol. Chem . 280 (41): 34397–408.
doi :
10.1074/jbc.M506458200 .
PMID
16046392 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Brandenberger R, Wei H, Zhang S, et al. (2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol . 22 (6): 707–16.
doi :
10.1038/nbt971 .
PMID
15146197 .
S2CID
27764390 .
Tomii Y, Kamochi J, Yamazaki H, et al. (2002). "Human thrombospondin 2 inhibits proliferation of microvascular endothelial cells". Int. J. Oncol . 20 (2): 339–42.
doi :
10.3892/ijo.20.2.339 .
PMID
11788898 .
External links
Activity Regulation Classification Kinetics Types