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Aliases for ADAMTS2 Gene

Aliases for ADAMTS2 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2 2 3 5
  • 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
  • ADAM-TS 2 4
  • EC 3.4.24 63
  • ADAMTS-3 3
  • PCI-NP 3
  • NPI 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 encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

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 Ehlers-Danlos Syndrome. Among its related pathways are Infectious disease and Diseases associated with O-glycosylation of proteins. GO annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS20.

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

Enhancers for ADAMTS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADAMTS2 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADAMTS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADAMTS2 Gene

Chromosome:
5
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

Genes around ADAMTS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for ADAMTS2 Gene

    Size:
    1211 amino acids
    Molecular mass:
    134755 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    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 Thr 64, Asn 112, Asn 251, Asn 949, Asn 993, Asn 1031, Asn 1098, Asn 1145, and Asn 1150
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADAMTS2 Gene

Gene Families for ADAMTS2 Gene

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 :
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
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

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

Human Phenotype Ontology for ADAMTS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTS2 Gene

MGI Knock Outs for ADAMTS2:

Animal Model Products

miRNA for ADAMTS2 Gene

miRTarBase miRNAs that target ADAMTS2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
plasma membrane 3
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ADAMTS2 Gene

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

Pathways & Interactions for ADAMTS2 Gene

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

Interacting Proteins for ADAMTS2 Gene

Gene Ontology (GO) - Biological Process for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016485 protein processing IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030199 collagen fibril organization IEA --
GO:0030574 collagen catabolic process IEA --
genes like me logo Genes that share ontologies with ADAMTS2: view

No data available for SIGNOR curated interactions for ADAMTS2 Gene

Drugs & Compounds for ADAMTS2 Gene

(1) Drugs for ADAMTS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102

(1) Additional Compounds for ADAMTS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for ADAMTS2 Gene

This gene is overexpressed in Amniocyte (37.6) and Bone marrow mesenchymal stem cell (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with ADAMTS2: view

Protein tissue co-expression partners for ADAMTS2 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS2 35
  • 98.43 (n)
  • 98.1 (a)
ADAMTS2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts2 35
  • 87.32 (n)
  • 89.12 (a)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS2 36
  • 76 (a)
OneToOne
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 adamts22 35
  • 63.32 (n)
  • 60.54 (a)
ADAMTS2 (2 of 2) 36
  • 69 (a)
OneToMany
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

(7) 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
rs398829 - 179,207,671(-) TGGGC(A/G)TCCTA reference, missense
rs1054480 - 179,113,974(-) AGCCA(C/T)CCAAC reference, missense
rs2271211 - 179,344,081(-) CCCAC(A/G)TGGTG reference, missense
rs11750821 - 179,207,682(+) GGGCG(A/C/T)GGCTG reference, missense
rs17667857 - 179,158,864(+) GATCT(C/T)GATGA reference, missense

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

Variation tolerance for ADAMTS2 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.58; 96.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS2 Gene

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

(14) MalaCards diseases for ADAMTS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, type viic
  • ehlers-danlos syndrome dermatosparaxis type
ehlers-danlos syndrome
  • cutis hyperelastica
ehlers-danlos syndrome, type vii
  • eds vii
anosognosia
narcissistic personality disorder
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for ADAMTS2

Genetic Association Database (GAD)
ADAMTS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS2
genes like me logo Genes that share disorders with ADAMTS2: view

No data available for Genatlas for ADAMTS2 Gene

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 67
  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. 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
  4. 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
  5. 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

Products for ADAMTS2 Gene

Sources for ADAMTS2 Gene

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