Contents

ADAMTS2

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, EDSDERMS
External IDs	OMIM: 604539; MGI: 1347356; HomoloGene: 8597; GeneCards: ADAMTS2; OMA:ADAMTS2 - orthologs
Gene location (Mouse) Chr. Chromosome 11 (mouse)[1] Band 11|11 B1.3 Start 50,492,911 bp[1] End 50,698,400 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium subcutaneous adipose tissue right lung right coronary artery spleen left coronary artery upper lobe of left lung gastric mucosa myometrium left uterine tube Top expressed in ascending aorta aortic valve decidua gastrula belly cord stroma of bone marrow body of femur ankle cervix vas deferens More reference expression data BioGPS n/a
Gene ontology Molecular function zinc ion binding peptidase activity metalloendopeptidase activity hydrolase activity metallopeptidase activity metal ion binding Cellular component extracellular region collagen-containing extracellular matrix extracellular matrix Biological process collagen catabolic process protein processing spermatogenesis skin development collagen fibril organization lung development proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9509 216725 Ensembl n/a ENSMUSG00000036545 UniProt O95450 Q8C9W3 RefSeq (mRNA) NM_021599 NM_014244 NM_001277305 NM_175643 RefSeq (protein) NP_055059 NP_067610 NP_783574 Location (UCSC) n/a Chr 11: 50.49 – 50.7 Mb PubMed search [2] [3]
Wikidata
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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]

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.

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.

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.

• ADAMTS5
• ADAMTS13

• GeneCard
• The MEROPS online database for peptidases and their inhibitors: M12.301
• Human ADAMTS2 genome location and ADAMTS2 gene details page in the UCSC Genome Browser.