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ADAMTS2 Gene

protein-coding   GIFtS: 60
GCID: GC05M178537

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 21 2     EC 3.4.24.143 8
Procollagen I N-Proteinase1 2 3     NPI2 5
Procollagen N-Endopeptidase1 2 3     ADAMTS-32
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 21 2
     PCI-NP2
Procollagen I/II Amino Propeptide-Processing Enzyme2 3     PNPI2
ADAM-TS22 3     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 22
ADAMTS-22 3     ADAM-TS 23
PCINP2 3     pNPI3
PCPNI2 3     EC 3.4.248
PC I-NP2 3     

External Ids:    HGNC: 2181   Entrez Gene: 95092   Ensembl: ENSG000000871167   OMIM: 6045395   UniProtKB: O954503   

Export aliases for ADAMTS2 gene to outside databases

Previous GC identifers: GC05M178625 GC05M179449 GC05M178654 GC05M178473 GC05M173265


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dermatosparaxis type, and anosognosia. GO annotations related to this gene include metallopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS17.

UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450
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

Gene Wiki entry for ADAMTS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTS2 gene promoter:
         USF1   USF2   USF-1:USF-2   E47   S8   E2F   E2F-1   USF-1   SEF-1 (1)   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ADAMTS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5qter   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q23-q24

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M178537:  view genomic region     (about GC identifiers)

Start:
178,537,852 bp from pter      End:
178,772,431 bp from pter
Size:
234,580 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 2 precursor  
Size: 1211 amino acids; 134755 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: May belong to a multimeric complex. Binds specifically to collagen type XIV (By similarity)
Caution: Has sometimes been referred to as ADAMTS3
Alternative splicing: 2 isoforms:  O95450-1   O95450-2   (Has no significant N-procollagen peptidase activity)

Explore the universe of human proteins at neXtProt for ADAMTS2: NX_O95450

Explore proteomics data for ADAMTS2 at MOPED

Post-translational modifications: 

  • The precursor is cleaved by a furin endopeptidase (By similarity)1
  • 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)1
  • Glycosylation2 at Thr64, Asn112, Asn251, Asn949, Asn993, Asn1031, Asn1098, Asn1145, Asn1150
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADAMTS2 (O95450) (see all 20)
     VCGGDNS  TKYGCRR  SNCDGLAG  EQCRFDFG 


    See ADAMTS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055059.2  NP_067610.1  

    ENSEMBL proteins: 
     ENSP00000251582   ENSP00000274609  
    Reactome Protein details: O95450

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ADAMTS: ADAM metallopeptidases with thrombospondin type 1 motif

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAMTS2
    ADAMTS family

    Selected InterPro protein domains (see all 8):
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR010909 PLAC
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR010294 ADAM_spacer1

    Graphical View of Domain Structure for InterPro Entry O95450

    ProtoNet protein and cluster: O95450

    Selected Blocks protein domains (see all 6):
    IPB000884 Thrombospondin
    IPB001762 Disintegrin
    IPB002870 Metalloendopeptidase M12B
    IPB008085 Thrombospondin type 1 repeat signature
    IPB010294 ADAM-TS Spacer 1


    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
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 4 TSP type-1 domains


    ADAMTS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATS2_HUMAN, O95450
    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
    Catalytic activity: 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

         Genatlas biochemistry entry for ADAMTS2:
    a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 2,extracellular
    matrix protein

         Enzyme Numbers (IUBMB): EC 3.4.24.141 2 EC 3.4.242

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008233peptidase activity ----
    GO:0008237metallopeptidase activity TAS10417273
    GO:0008270zinc ion binding IEA--
         
    ADAMTS2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Adamts2):
     craniofacial  integument  normal  reproductive system  respiratory system 
     skeleton 

    ADAMTS2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Adamts2tm1Prc for ADAMTS2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTS2
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    miRNA
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    miRTarBase miRNAs that target ADAMTS2:
    hsa-mir-106b-3p (MIRT038560)

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    Selected qRT-PCR Assays for microRNAs that regulate ADAMTS2 (see all 26):
    hsa-miR-4291 hsa-miR-1178 hsa-miR-330-5p hsa-miR-2110 hsa-miR-767-5p hsa-miR-29a hsa-miR-29c hsa-miR-3653
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATS2_HUMAN, O95450: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane3
    lysosome1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0031012extracellular matrix ----

    ADAMTS2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ADAMTS2 About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Collagen formation0.75
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for ADAMTS2
        Collagen biosynthesis and modifying enzymes
    O-glycosylation of TSR domain-containing proteins



    ADAMTS2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTS2
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ADAMTS2 (O954503 ENSP000002515824) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    PIK3R5Q8WYR13, ENSP000002693004I2D: score=1 STRING: ENSP00000269300
    BMP1ENSP000003057144STRING: ENSP00000305714
    PCOLCEENSP000002230614STRING: ENSP00000223061
    TLL1ENSP000000612404STRING: ENSP00000061240
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007283spermatogenesis IEA--
    GO:0016485protein processing ----
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization IEA--

    ADAMTS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAMTS2 (ATS2)

    1 HMDB Compound for ADAMTS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    1 Novoseek inferred chemical compound relationship for ADAMTS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 74.7 6 18542833 (2), 18084737 (1), 15389701 (1), 12646579 (1)



    ADAMTS2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ADAMTS2 gene (2 alternative transcripts): 
    NM_014244.4  NM_021599.2  

    Unigene Cluster for ADAMTS2:

    ADAM metallopeptidase with thrombospondin type 1 motif, 2
    Hs.23871  [show with all ESTs]
    Unigene Representative Sequence: NM_014244
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251582(uc003mjw.3) ENST00000522937 ENST00000523450 ENST00000518335
    ENST00000274609(uc011dgm.2)
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    hsa-miR-4291 hsa-miR-1178 hsa-miR-330-5p hsa-miR-2110 hsa-miR-767-5p hsa-miR-29a hsa-miR-29c hsa-miR-3653
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    Additional mRNA sequence: 

    AJ003125.1 AK308213.1 BC098581.1 BX537606.1 

    4 DOTS entries:

    DT.202953  DT.97825427  DT.91828867  DT.95150484 

    Selected AceView cDNA sequences (see all 175):

    AI097350 AI393865 AI755089 BX282618 BF058422 AA150145 CK725208 AL046910 
    AA599328 AI094454 CB216501 AI147135 BQ019905 CB215831 BU579808 AA443022 
    CR598488 BQ574410 AA732806 BM995013 CA411745 AI143851 BQ017847 CA449120 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ADAMTS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ADAMTS2 Expression
    About this image


    ADAMTS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
    ADAMTS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.23871

    UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450
    Tissue specificity: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ADAMTS2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts21 , 5 a disintegrin-like and metallopeptidase (reprolysin more1, 5 86.45(n)1
    88.51(a)1
      11 (30.78 cM)5
    2167251  NM_175643.31  NP_783574.11 
     506020845 
    chicken
    (Gallus gallus)
    Aves ADAMTS21 ADAM metallopeptidase with thrombospondin type 1 motif, more 71.77(n)
    75.85(a)
      416291  XM_414611.4  XP_414611.4 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTS26
    ADAM metallopeptidase with thrombospondin type 1 m...
    73(a)
    1 ↔ 1
    2(140656003-140956700)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004924311 A disintegrin and metalloproteinase with thrombospondin more 63.93(n)
    68.36(a)
      100492431  XM_002933635.2  XP_002933681.2 
    zebrafish
    (Danio rerio)
    Actinopterygii adamts221 ADAM metallopeptidase with thrombospondin type 1 motif, more 63.32(n)
    60.54(a)
      571682  XM_695292.3  XP_700384.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTS2 gene
    ADAMTS172  ADAMTS12  ADAMTS182  ADAMTS192  ADAMTS62  ADAMTS142  ADAMTS202  ADAMTS52  
    ADAMTS152  ADAMTS42  ADAMTS92  ADAMTS82  ADAMTS162  ADAMTS32  ADAMTS102  
    7 SIMAP similar genes for ADAMTS2 using alignment to 1 protein entry:     ATS2_HUMAN:
    ADAMTS14    ADAMTS3    ADAMTS13    ADAMTS20    ADAMTS1    ADAMTS4
    DKFZp686E01144

    ADAMTS2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADAMTS2 (see all 6256)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011967111,2
    --173270234(+) AGGGA-/GGGAGA 1 -- int10--------
    rs37768081,2
    C--173270236(+) GGAGGA/GAGAAA 1 -- int10--------
    rs37768091,2
    C--173270237(+) GAGGGA/GGAAAG 1 -- int10--------
    rs557351291,2
    C--173276863(+) CAGGC-/ACCCCCCA
    CTCACACAGGC
    GTCCC
    1 -- int10--------
    rs77021351,2
    C,A,H--173276864(+) CAGGCG/ATCCCC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs77267351,2
    C,A,H--173276865(+) AGGCGC/TCCCCC 1 -- int10--------
    rs2022019551,2
    --173289284(+) CTCCA-/TGCTCC 1 -- int10--------
    rs12986511,2
    C--173289304(-) gggggA/Ctggag 1 -- int10--------
    rs1893163311,2
    --173289305(+) TCCATA/CCCCCA 1 -- int10--------
    rs1808106151,2
    --173289326(+) CCAGCC/TCCCAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ADAMTS2 (178537852 - 178772431 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADAMTS2 (see all 57):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1695463CNV Deletion17803354
    esv2731286CNV Deletion23290073
    esv2659777CNV Deletion23128226
    esv991289CNV Deletion20482838
    esv2731289CNV Deletion23290073
    esv2731275CNV Deletion23290073
    esv2664480CNV Deletion23128226
    esv988467CNV Deletion20482838
    esv1300070CNV Deletion17803354
    esv2731278CNV Deletion23290073

    Human Gene Mutation Database (HGMD): ADAMTS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTS2
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604539   
    OMIM disorders: 225410  
    UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ADAMTS2 (see all 23):    
    About MalaCards
    ehlers-danlos syndrome dermatosparaxis type    anosognosia    exhibitionism    ehlers-danlos syndrome, type vii
    ehlers-danlos syndrome    lewy body dementia    cutis laxa    osteogenesis imperfecta
    dementia    connective tissue disease    vascular dementia    frontotemporal dementia
    attention deficit hyperactivity disorder    brain disease    acute myocardial infarction    myocardial infarction
    renal cell carcinoma    parkinson's disease    retinitis    alzheimer's disease

    4 diseases from the University of Copenhagen DISEASES database for ADAMTS2:
    Alzheimer's disease     Brain disease     Ehlers-Danlos syndrome     Anosognosia

    ADAMTS2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ADAMTS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dermatosparaxis 97.8 12 10417273 (3), 1642226 (1), 11408482 (1), 15389701 (1) (see all 7)
    ehlers-danlos syndrome 88.9 7 10417273 (1), 15373769 (1), 11408482 (1), 15389701 (1) (see all 6)
    connective tissue diseases 45.5 1 15389701 (1)
    cancer 0 1 15538223 (1)

    Genetic Association Database (GAD): ADAMTS2

    Export disorders for ADAMTS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ADAMTS2 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with ADAMTS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. (PubMed id 10417273)1, 2, 9 Colige A.... Nusgens B.V. (Am. J. Hum. Genet. 1999)
    2. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. (PubMed id 15373769)1, 3, 9 Colige A....Nusgens B.V. (J. Invest. Dermatol. 2004)
    3. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. (PubMed id 18937294)1, 4 Lasky-Su J....Faraone S.V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    4. ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats. (PubMed id 10094461)1, 3 Tang B.L. and Hong W. (FEBS Lett. 1999)
    5. ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. (PubMed id 10464288)1, 9 Hurskainen T.L.... Apte S.S. (J. Biol. Chem. 1999)
    6. Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. (PubMed id 11741898)1, 9 Colige A.... Nusgens B.V. (J. Biol. Chem. 2002)
    7. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
    8. A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke. (PubMed id 22990015)1 Arning A....Nowak-GAPttl U. (Blood 2012)
    9. Expression of ADAMTS-2, -3, -13, and -14 in culprit coronary lesions in patients with acute myocardial infarction or stable angina. (PubMed id 22205175)1 Lee C.W....Park S.J. (J. Thromb. Thrombolysis 2012)
    10. ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity. (PubMed id 20574651)1 Dubail J....Colige A. (Cell. Mol. Life Sci. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9509 HGNC: 218 AceView: ADAMTS2 Ensembl:ENSG00000087116 euGenes: HUgn9509
    ECgene: ADAMTS2 H-InvDB: ADAMTS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ADAMTS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAMTS2 gene:
    Search GeneIP for patents involving ADAMTS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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