Homo sapiens Gene: ADAMTS2
Summary
InnateDB Gene IDBG-61312.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ADAMTS2
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif, 2
Synonyms ADAM-TS2; ADAMTS-2; ADAMTS-3; NPI; PC I-NP; PCI-NP; PCINP; PCPNI; PNPI;
Species Homo sapiens
Ensembl Gene ENSG00000087116
Encoded Proteins
ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAM metallopeptidase with thrombospondin type 1 motif, 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:179110851-179345430
Strand Reverse strand
Band q35.3
Transcripts
ENST00000251582 ENSP00000251582
ENST00000274609 ENSP00000274609
ENST00000522937
ENST00000523450
ENST00000518335
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004222 metalloendopeptidase activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0006508 proteolysis
GO:0007283 spermatogenesis
GO:0016485 protein processing
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030324 lung development
GO:0030574 collagen catabolic process
GO:0043588 skin development
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Post-translational protein modification pathway
Extracellular matrix organization pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
O-glycosylation of TSR domain-containing proteins pathway
Collagen formation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.23871
RefSeq NM_014244 NM_021599
HUGO
OMIM
CCDS CCDS34311 CCDS4444
HPRD 05173
IMGT
EMBL
GenPept
RNA Seq Atlas