InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-61314

ADAM metallopeptidase with thrombospondin type 1 motif, 2

IDBP-61316

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

ENSMUSG00000036545

View Gene Order

ENSBTAG00000014665

Not yet available

Pathways

NETPATH

REACTOME

REACT_121139

Collagen biosynthesis and modifying enzymes pathway

REACT_22161

Post-translational protein modification pathway

REACT_118779

Extracellular matrix organization pathway

REACT_200727

O-linked glycosylation pathway

REACT_17015

Metabolism of proteins pathway

REACT_200626

O-glycosylation of TSR domain-containing proteins pathway

REACT_120729

Collagen formation pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

O95450

TrEMBL

UniProt Splice Variant

Entrez Gene

9509

UniGene

Hs.23871

RefSeq

NM_014244 NM_021599

HUGO

HGNC:218

OMIM

604539

CCDS

CCDS34311 CCDS4444

HPRD

IMGT

EMBL

AC008544 AC010216 AC109479 AJ003125

GenPept

CAA05880

RNA Seq Atlas

9509