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Aliases for ADAMTS2 Gene

Aliases for ADAMTS2 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 2 2 3
  • Procollagen N-Endopeptidase 2 3 4
  • Procollagen I N-Proteinase 2 3 4
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 2 2 3
  • Procollagen I/II Amino Propeptide-Processing Enzyme 3 4
  • EC 3.4.24.14 4 63
  • ADAM-TS2 3 4
  • ADAMTS-2 3 4
  • PC I-NP 3 4
  • PCINP 3 4
  • PCPNI 3 4
  • PNPI 3 4
  • NPI 3 6
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 2 3
  • ADAM-TS 2 4
  • EC 3.4.24 63
  • ADAMTS-3 3
  • PCI-NP 3

External Ids for ADAMTS2 Gene

Previous GeneCards Identifiers for ADAMTS2 Gene

  • GC05M178625
  • GC05M179449
  • GC05M178654
  • GC05M178473
  • GC05M173265
  • GC05M178537

Summaries for ADAMTS2 Gene

Entrez Gene Summary for ADAMTS2 Gene

  • 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]

GeneCards Summary for ADAMTS2 Gene

ADAMTS2 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 2) is a Protein Coding gene. Diseases associated with ADAMTS2 include ehlers-danlos syndrome, type viic and anosognosia. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS16.

UniProtKB/Swiss-Prot for ADAMTS2 Gene

  • Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis

Gene Wiki entry for ADAMTS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS2 Gene

Genomics for ADAMTS2 Gene

Regulatory Elements for ADAMTS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADAMTS2 Gene

Start:
179,110,851 bp from pter
End:
179,345,430 bp from pter
Size:
234,580 bases
Orientation:
Minus strand

Genomic View for ADAMTS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADAMTS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS2 Gene

Proteins for ADAMTS2 Gene

  • Protein details for ADAMTS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95450-ATS2_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 2
    Protein Accession:
    O95450
    Secondary Accessions:

    Protein attributes for ADAMTS2 Gene

    Size:
    1211 amino acids
    Molecular mass:
    134755 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • May belong to a multimeric complex. Binds specifically to collagen type XIV (By similarity).

    Alternative splice isoforms for ADAMTS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS2 Gene

Proteomics data for ADAMTS2 Gene at MOPED

Post-translational modifications for ADAMTS2 Gene

  • Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Thr64, Asn112, Asn251, Asn949, Asn993, Asn1031, Asn1098, Asn1145, and Asn1150
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for ADAMTS2 Gene

Gene Families for ADAMTS2 Gene

HGNC:
  • ADAMTS :ADAM metallopeptidases with thrombospondin type 1 motif
IUPHAR :

Suggested Antigen Peptide Sequences for ADAMTS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95450

UniProtKB/Swiss-Prot:

ATS2_HUMAN :
  • O95450
Domain:
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 1 PLAC domain.
  • Contains 4 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTS2: view

Function for ADAMTS2 Gene

Molecular function for ADAMTS2 Gene

GENATLAS Biochemistry: a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 2,extracellular matrix protein
UniProtKB/Swiss-Prot CatalyticActivity: Cleaves the N-propeptide of collagen chain alpha-1(I) at Pro- -Gln and of alpha-1(II) and alpha-2(I) at Ala- -Gln
UniProtKB/Swiss-Prot Function: Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis

Enzyme Numbers (IUBMB) for ADAMTS2 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity --
GO:0008237 metallopeptidase activity TAS 10417273
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTS2: view
genes like me logo Genes that share phenotypes with ADAMTS2: view

Animal Models for ADAMTS2 Gene

MGI Knock Outs for ADAMTS2:

Animal Model Products

CRISPR Products

miRNA for ADAMTS2 Gene

miRTarBase miRNAs that target ADAMTS2

No data available for Transcription Factor Targeting and HOMER Transcription for ADAMTS2 Gene

Localization for ADAMTS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADAMTS2 Gene COMPARTMENTS Subcellular localization image for ADAMTS2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with ADAMTS2: view

Pathways for ADAMTS2 Gene

genes like me logo Genes that share pathways with ADAMTS2: view

Pathways by source for ADAMTS2 Gene

Interacting Proteins for ADAMTS2 Gene

Gene Ontology (GO) - Biological Process for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0007283 spermatogenesis IEA --
GO:0016485 protein processing IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030199 collagen fibril organization IEA --
genes like me logo Genes that share ontologies with ADAMTS2: view

Compounds for ADAMTS2 Gene

(1) HMDB Compounds for ADAMTS2 Gene

Compound Synonyms Cas Number PubMed IDs
Zinc
  • Zinc
7440-66-6

(1) Novoseek inferred chemical compound relationships for ADAMTS2 Gene

Compound -log(P) Hits PubMed IDs
procollagen 74.7 5
genes like me logo Genes that share compounds with ADAMTS2: view

Transcripts for ADAMTS2 Gene

Unigene Clusters for ADAMTS2 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADAMTS2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ADAMTS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS2 Gene

No ASD Table

Relevant External Links for ADAMTS2 Gene

GeneLoc Exon Structure for
ADAMTS2
ECgene alternative splicing isoforms for
ADAMTS2

Expression for ADAMTS2 Gene

mRNA expression in normal human tissues for ADAMTS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ADAMTS2 Gene

SOURCE GeneReport for Unigene cluster for ADAMTS2 Gene Hs.23871

mRNA Expression by UniProt/SwissProt for ADAMTS2 Gene

O95450-ATS2_HUMAN
Tissue specificity: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain
genes like me logo Genes that share expressions with ADAMTS2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ADAMTS2 Gene

Orthologs for ADAMTS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS2 35
  • 98.43 (n)
  • 98.1 (a)
ADAMTS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADAMTS2 35
  • 89.23 (n)
  • 92.25 (a)
ADAMTS2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTS2 35
  • 88.49 (n)
  • 90.53 (a)
ADAMTS2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts2 35
  • 86.45 (n)
  • 88.51 (a)
Adamts2 16
Adamts2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADAMTS2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts2 35
  • 87.32 (n)
  • 89.12 (a)
chicken
(Gallus gallus)
Aves ADAMTS2 35
  • 71.77 (n)
  • 75.85 (a)
ADAMTS2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAMTS2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492431 35
  • 63.93 (n)
  • 68.36 (a)
zebrafish
(Danio rerio)
Actinopterygii ADAMTS2 (2 of 2) 36
  • 69 (a)
OneToMany
adamts22 35
  • 63.32 (n)
  • 60.54 (a)
adamts22 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 37
  • 33 (a)
C37C3.6b 37
  • 33 (a)
Species with no ortholog for ADAMTS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAMTS2 Gene

ENSEMBL:
Gene Tree for ADAMTS2 (if available)
TreeFam:
Gene Tree for ADAMTS2 (if available)

Paralogs for ADAMTS2 Gene

Selected SIMAP similar genes for ADAMTS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ADAMTS2: view

Variants for ADAMTS2 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs15144 -- 179,110,933(+) AAGAT(G/T)TATTG utr-variant-3-prime
rs23438 -- 179,321,331(-) TGCTG(C/T)GGTGG intron-variant
rs26810 -- 179,337,835(+) GAGGA(C/T)CTGGC intron-variant
rs26811 -- 179,337,897(-) GGGCC(A/T)CACCT intron-variant
rs26812 -- 179,337,905(-) GCTCA(C/T)AGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS2 Gene

Variant ID Type Subtype PubMed ID
nsv883222 CNV Loss 21882294
esv2659777 CNV Deletion 23128226
esv2731272 CNV Deletion 23290073
nsv883223 CNV Loss 21882294
nsv509109 CNV Insertion 20534489
nsv328622 CNV Loss 16902084
esv1300070 CNV Deletion 17803354
dgv6390n71 CNV Loss 21882294
nsv883227 CNV Loss 21882294
dgv6391n71 CNV Loss 21882294
esv988467 CNV Deletion 20482838
dgv6392n71 CNV Loss 21882294
nsv830558 CNV Loss 17160897
nsv883232 CNV Gain 21882294
esv2731274 CNV Deletion 23290073
esv2007859 CNV Deletion 18987734
esv2664480 CNV Deletion 23128226
nsv327470 CNV Loss 16902084
esv2731275 CNV Deletion 23290073
esv2731276 CNV Deletion 23290073
nsv329044 CNV Insertion 16902084
esv2731277 CNV Deletion 23290073
esv2731278 CNV Deletion 23290073
nsv328920 CNV Loss 16902084
esv2731279 CNV Deletion 23290073
dgv1879e1 CNV Complex 17122850
dgv1880e1 CNV Complex 17122850
nsv883233 CNV Loss 21882294
nsv883234 CNV Loss 21882294
esv2731280 CNV Deletion 23290073
esv2731281 CNV Deletion 23290073
esv2731282 CNV Deletion 23290073
esv2159438 CNV Deletion 18987734
esv2731283 CNV Deletion 23290073
esv27894 CNV Gain 19812545
esv2731285 CNV Deletion 23290073
dgv6393n71 CNV Gain 21882294
nsv883236 CNV Loss 21882294
dgv6394n71 CNV Gain 21882294
dgv210e55 CNV Gain 17911159
dgv6395n71 CNV Gain 21882294
nsv883245 CNV Gain 21882294
nsv433375 CNV Gain 18776910
dgv734n27 CNV Gain 19166990
nsv471061 CNV Gain 18288195
nsv441979 CNV CNV 18776908
esv2731286 CNV Deletion 23290073
esv2731287 CNV Deletion 23290073
esv991289 CNV Deletion 20482838
esv2657354 CNV Deletion 23128226
esv1695463 CNV Deletion 17803354
nsv328326 CNV Loss 16902084
nsv328359 CNV Insertion 16902084
nsv819099 CNV Loss 19587683
esv2731288 CNV Deletion 23290073
esv2731289 CNV Deletion 23290073
nsv328099 CNV Insertion 16902084

Relevant External Links for ADAMTS2 Gene

HapMap Linkage Disequilibrium report
ADAMTS2
Human Gene Mutation Database (HGMD)
ADAMTS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS2 Gene

Disorders for ADAMTS2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ADAMTS2 Gene including...

Search for ADAMTS2 Gene in MalaCards »

(1) OMIM Diseases for ADAMTS2 Gene (604539)

UniProtKB/Swiss-Prot

ATS2_HUMAN
  • Ehlers-Danlos syndrome 7C (EDS7C) [MIM:225410]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. {ECO:0000269 PubMed:10417273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for ADAMTS2 Gene

(4) Novoseek inferred disease relationships for ADAMTS2 Gene

Disease -log(P) Hits PubMed IDs
dermatosparaxis 97.8 9
ehlers-danlos syndrome 88.9 6
connective tissue diseases 45.5 1
cancer 0 1

Relevant External Links for ADAMTS2

Genetic Association Database (GAD)
ADAMTS2
genes like me logo Genes that share disorders with ADAMTS2: view

Publications for ADAMTS2 Gene

  1. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. (PMID: 10417273) Colige A. … Nusgens B.V. (Am. J. Hum. Genet. 1999) 3 4 23
  2. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. (PMID: 15373769) Colige A. … Nusgens B.V. (J. Invest. Dermatol. 2004) 2 3 23
  3. ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. (PMID: 10464288) Hurskainen T.L. … Apte S.S. (J. Biol. Chem. 1999) 3 23
  4. Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. (PMID: 11741898) Colige A. … Nusgens B.V. (J. Biol. Chem. 2002) 3 23
  5. ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats. (PMID: 10094461) Tang B.L. … Hong W. (FEBS Lett. 1999) 2 3

Products for ADAMTS2 Gene

  • antibodies-online proteins for ADAMTS2
  • antibodies-online antibodies for ADAMTS2
  • antibodies-online kits for ADAMTS2

Sources for ADAMTS2 Gene

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