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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADAMTS13 Gene

protein-coding   GIFtS: 58
GCID: GC09P136279

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
(Previous symbol: C9orf8)
  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)
About This Section

Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 131 2     VWFCP2 5
C9orf81 2 3     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 132
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 131 2
     EC 3.4.24.873
ADAM-TS132 3     ADAM-TS 133
ADAMTS-132 3     TTP5
vWF-CP2 3     EC 3.4.24.148
Von Willebrand Factor-Cleaving Protease2 3     EC 3.4.24.828
VWF-Cleaving Protease2 3     

External Ids:    HGNC: 13661   Entrez Gene: 110932   Ensembl: ENSG000001603237   OMIM: 6041345   UniProtKB: Q76LX83   

Export aliases for ADAMTS13 gene to outside databases

Previous GC identifers: GC09P127376 GC09P127843 GC09P129634 GC09P131563 GC09P133316 GC09P135276 GC09P105781


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADAMTS13 Gene:
This gene encodes a member of a family of proteins containing several distinct regions, including a
metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded
by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with
thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Jul 2013)

GeneCards Summary for ADAMTS13 Gene: 
ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif, 13) is a protein-coding gene. Diseases associated with ADAMTS13 include purpura, and thrombotic thrombocytopenic purpura. GO annotations related to this gene include integrin binding and calcium ion binding. An important paralog of this gene is ADAMTSL4.

UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
Function: Cleaves the vWF multimers in plasma into smaller forms

Gene Wiki entry for ADAMTS13 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAMTS13 gene promoter:
         CREB   NF-1   AP-1   deltaCREB   XBP-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTS13 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADAMTS13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTS13


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q34

ADAMTS13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS13 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P136279:  view genomic region     (about GC identifiers)

Start:
136,279,459 bp from pter      End:
136,324,508 bp from pter
Size:
45,050 bases      Orientation:
plus strand

1 alternative location:
Chr9+,NW_003315925 240,433-285,480     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 13 precursor  
Size: 1427 amino acids; 153604 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Cofactor: Binds 4 calcium ions (Potential)
Subcellular location: Secreted. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats
Sequence caution: Sequence=AAQ88485.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAB66743.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for ADAMTS13:
3GHM (3D)        3GHN (3D)        3VN4 (3D)    
Secondary accessions: Q6UY16 Q710F6 Q711T8 Q96L37 Q9H0G3
Alternative splicing: 3 isoforms:  Q76LX8-1   Q76LX8-2   Q76LX8-3   

Explore the universe of human proteins at neXtProt for ADAMTS13: NX_Q76LX8

Explore proteomics data for ADAMTS13 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated. 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
    ADAMTS13. May also be C-glycosylated on tryptophan residues within the consensus sequence W-X-X-W of the TPRs,
    and also N-glycosylated. These other glycosylations can also facilitate secretion
  • UniProtKB: The precursor is processed by a furin endopeptidase which cleaves off the pro-domain
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q76LX8

  • 2 DME Specific Peptides for ADAMTS13 (Q76LX8)
     VCGGDNS  CSRSCGGG 

    ADAMTS13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADAMTS13 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_620594.1  NP_620595.1  NP_620596.2  

    ENSEMBL proteins: 
     ENSP00000360997   ENSP00000435274   ENSP00000347927   ENSP00000348997   ENSP00000435305  
     ENSP00000360978   ENSP00000360984   ENSP00000360979   ENSP00000444504  

    Human Recombinant Protein Products for ADAMTS13: 
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    Novus Biologicals ADAMTS13 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix TAS11557746
    GO:0005615extracellular space IEA--
    GO:0009986cell surface NAS11557746
    GO:0031012extracellular matrix ----

    ADAMTS13 for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ADAMTS: ADAM metallopeptidases with thrombospondin type 1 motif

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAMTS13 
    ADAMTS family

    5 InterPro protein domains:
     IPR000859 CUB_dom
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR001590 Peptidase_M12B
     IPR013273 Peptidase_M12B_ADAM-TS

    Graphical View of Domain Structure for InterPro Entry Q76LX8

    ProtoNet protein and cluster: Q76LX8

    2 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB001762 Disintegrin


    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
    Domain: The pro-domain is not required for folding or secretion and does not perform the common function of
    maintening enzyme latency
    Domain: The spacer domain is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains may
    modulate this interaction
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 8 TSP type-1 domains


    ADAMTS13 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATS13_HUMAN, Q76LX8
    Function: Cleaves the vWF multimers in plasma into smaller forms
    Catalytic activity: Cleaves the vWF at the 842-Tyr- -Met-843 in the A2 domain of the vWF subunit
    Catalytic activity: The enzyme cleaves the von Willebrand factor at bond Tyr(842)- -Met(843) within the A2 domain
    Enzyme regulation: Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is
    not required for protease activity

         Enzyme Numbers (IUBMB): EC 3.4.24.142 EC 3.4.24.822 EC 3.4.24.871

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005178integrin binding TAS11557746
    GO:0005509calcium ion binding TAS11557746
    GO:0005515protein binding IPI12775718
         
    ADAMTS13 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTS13:
     Decreased viability of wild-ty 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Adamts13):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  no phenotypic analysis 
     normal 

    ADAMTS13 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ADAMTS13: Adamts13tm1Dgi Adamts13tm1Myta Adamts13tm2.1Dgi

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADAMTS13 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS13


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADAMTS13

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ADAMTS13 (Q76LX81, 3 ENSP000003609974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VWFP042751, 3, ENSP000002614054EBI-981764,EBI-981819 I2D: score=3 STRING: ENSP00000261405
    F8ENSP000003533934STRING: ENSP00000353393
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA11535495
    GO:0007160cell-matrix adhesion NAS11557746
    GO:0007229integrin-mediated signaling pathway NAS11557746
    GO:0009100glycoprotein metabolic process NAS11557746
    GO:0016485protein processing TAS11557746

    ADAMTS13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADAMTS13 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ADAMTS13 (ATS13)

    1 HMDB Compound for ADAMTS13    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/19 Novoseek inferred chemical compound relationships for ADAMTS13 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ristocetin 68.5 9 16293984 (2), 12590947 (1), 12223999 (1), 15809291 (1) (see all 7)
    rituximab 64.1 15 17562094 (3), 19190804 (2), 15009067 (1), 17233471 (1) (see all 8)
    ticlopidine 56.1 6 16104532 (2), 14687031 (1), 16388413 (1), 17868804 (1)
    vincristine 28.2 3 10348715 (1), 15009067 (1), 9531594 (1)
    cyclosporin a 20.4 6 17910638 (2), 16113782 (1), 17603247 (1), 12438949 (1)
    zinc 17.9 14 16286459 (5), 16201838 (1), 15809291 (1), 14631548 (1) (see all 10)
    desmopressin 17.3 9 12393734 (3), 15735809 (1), 15238142 (1)
    steroid 14.2 1 16787872 (1)
    fibrinogen 7.78 4 17561859 (2), 18988930 (1)
    barium 7.21 4 16286459 (3), 16269936 (1)

    Search CenterWatch for drugs/clinical trials and news about ADAMTS13 / ATS13

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADAMTS13 gene (4 alternative transcripts): 
    NM_139025.4  NM_139026.4  NM_139027.4  NM_139028.2  

    Unigene Cluster for ADAMTS13:

    ADAM metallopeptidase with thrombospondin type 1 motif, 13
    Hs.131433  [show with all ESTs]
    Unigene Representative Sequence: AB069698
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485925(uc004cdp.4) ENST00000371929(uc004cdq.1 uc004cdt.1 uc004cdu.1 uc004cdv.4 uc004cdw.4 uc004cdx.4 uc004cdz.4)
    ENST00000495234 ENST00000355699 ENST00000356589 ENST00000474918 ENST00000371910(uc004cea.1 uc004ceb.4)
    ENST00000371916(uc004cdr.1 uc004cds.1) ENST00000371911 ENST00000536611(uc004cdy.1)

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    Additional mRNA sequence: 

    AB069698.2 AF414400.1 AF414401.1 AJ305314.1 AJ420810.1 AJ420811.1 AK124983.1 AK292439.1 
    AL136809.1 AY055376.1 AY358118.1 BC034404.1 BC103830.1 NR_024514.1 

    14 DOTS entries:

    DT.75101298  DT.95149106  DT.95149107  DT.101982583  DT.95112538  DT.100747384  DT.121151719  DT.75100402 
    DT.101966600  DT.121151795  DT.97812160  DT.99964038  DT.99993596  DT.40254772 

    24/57 AceView cDNA sequences (see all 57):

    AV647043 BI043112 AJ420811 NM_139028 NM_139026 AB069698 BI043018 AF414400 
    AJ420810 BQ721578 AJ305314 NM_139025 NM_139027 AW135955 AI202898 AF414401 
    AV647504 CD636625 T12572 AL136809 AY358118 AY055376 BI831048 AI474749 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS13 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                                                  -                 -                                         -                                             
    SP2:                                                  -                 -                                         -                                             
    SP3:                                                  -     -           -                                         -                                             
    SP4:                                            -     -     -     -     -                 -                       -                       -     -     -         
    SP5:                                            -     -     -     -     -           -     -     -     -     -     -                                             

    ExUns: 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b
    SP1:                                                              -                 -                     
    SP2:                                                        -     -                 -                     
    SP3:                                                        -     -                 -                     
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for ADAMTS13

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADAMTS13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGCTGAAA
    ADAMTS13 Expression
    About this image


    See ADAMTS13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAMTS13

    SOURCE GeneReport for Unigene cluster: Hs.131433

    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
    Tissue specificity: Plasma. Expressed primarily in liver

        SABiosciences Expression via Pathway-Focused PCR Array including ADAMTS13: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ADAMTS13 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts131 , 5 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 less1, 5 76.59(n)1
    71.65(a)1
      2 (19.14 cM)5
    2790281  NM_001001322.21  NP_001001322.11 
     269734165 
    chicken
    (Gallus gallus)
    Aves ADAMTS131 ADAM metallopeptidase with thrombospondin type 1 motif, 13 less 57.22(n)
    51.03(a)
      417152  XM_415435.3  XP_415435.3 
    zebrafish
    (Danio rerio)
    Actinopterygii adamts131 ADAM metallopeptidase with thrombospondin type 1 motif, 13 less 50.97(n)
    44.74(a)
      100320289  XM_002663221.2  XP_002663267.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta stl6
    stall
    14(a)
    possible ortholog
    2R(18695365-18703498)
    worm
    (Caenorhabditis elegans)
    Secernentea adt-26
    T19D2.16
    (see all 3)
    Protein T19D2.1
    (see all 3)
    18(a)
    15(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    X(7585587-7595489)
    X(3931770-3937881)


    ENSEMBL Gene Tree for ADAMTS13 (if available)
    TreeFam Gene Tree for ADAMTS13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAMTS13 gene
    ADAMTSL42  ADAMTS72  ADAMTS122  THSD42  ADAMTSL22  PAPLN2  ADAMTSL52  ADAMTSL12  
    ENSG000002156162  ADAMTSL32  
    11 SIMAP similar genes for ADAMTS13 using alignment to 8 protein entries:     ATS13_HUMAN (see all proteins):
    C9orf8    ADAMTS12    ADAMTS17    ADAMTS1    ADAMTS20    DKFZp686E01144
    ADAMTS8    PAPLN    ADAMTS9    ADAMTS19    ADAMTS2

    ADAMTS13 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ADAMTS13
    PGOHUM00000236785


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
    Polymorphism: Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent
    on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene
    expression, thereby altering the phenotype of ADAMTS13 deficiency


    10/1182 SNPs in ADAMTS13 are shown (see all 1182)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1425722181,2,4
    C,FThrombotic thrombocytopenic purpura congenital (TTP)4 untested1106086670(+) TGGTGC/TGGCCC 7 R W mis12Minor allele frequency- T:0.00NA EU 5673
    rs1219084721,2,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106086778(+) GCCCAT/GGTTCG 7 /G /C mis11Minor allele frequency- G:0.00NA 4548
    rs2818753011,2,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 untested1106095409(+) CTCCTA/C/GCGGGC 11 Y S C mis10--------
    rs1219084751,2,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106098716(+) CTGTGC/TGTGGG 7 R C mis1 int11Minor allele frequency- T:0.00EU 1101
    rs2818752901,2,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 untested1106100846(+) TCGTGC/GCTGGG 7 P A mis10--------
    rs1219084711,2,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106107743(+) CTCCCA/GCTCCT 7 H R mis1 int10--------
    rs1219084701,2,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106114828(+) CGTCAC/TCCAGC 7 T I mis10--------
    rs115759331,2,4
    C,Fpathogenic1106104278(+) CTGTAC/TCACAC 7 P S mis1 int13Minor allele frequency- T:0.00NA 2938
    rs1219084761,2
    Cpathogenic1106104356(+) CGCAAC/TAGTGC 7 Q * stg1 int10--------
    rs23016121,2,4
    C,F,A,Hpathogenic1106104359(+) TGTCGC/GAACAG 7 Q E mis1 int122Minor allele frequency- G:0.24NS EA NA EU 5661

    HapMap Linkage Disequilibrium report for ADAMTS13 (136279459 - 136324508 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for ADAMTS13 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739138CNV Deletion23290073
    nsv894096CNV Loss21882294
    nsv894081CNV Loss21882294
    esv26825CNV Loss19812545
    nsv894091CNV Loss21882294
    nsv894090CNV Loss21882294
    dgv8329n71CNV Loss21882294
    dgv8328n71CNV Loss21882294
    dgv8325n71CNV Loss21882294
    nsv894095CNV Loss21882294


    Human Gene Mutation Database (HGMD): ADAMTS13
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604134   
    OMIM disorders: 274150  
    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
  • Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]: A hematologic disease characterized by
    hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings,
    decreased renal function and fever. recessive. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/53 diseases for ADAMTS13 (see all 53):    About MalaCards
    purpura    thrombotic thrombocytopenic purpura    evans' syndrome    familial thrombotic thrombocytopenia purpura
    thrombotic thrombocytopenic purpura, congenital    type 1 von willebrand disease    malignant hypertension    type 2b von willebrand disease
    von willebrand's disease    catastrophic antiphospholipid syndrome    antiphospholipid syndrome    hellp syndrome
    hemolytic-uremic syndrome    autoimmune thrombocytopenic purpura    connective tissue disease    alcoholic hepatitis
    disseminated intravascular coagulation    nephrosclerosis    atypical hemolytic-uremic syndrome    lupus nephritis

    5 diseases from the University of Copenhagen DISEASES database for ADAMTS13:
    Thrombotic thrombocytopenic purpura     Thrombocytopenia     Anemia     Von Willebrand's disease
    Kidney failure

    ADAMTS13 for disorders           About GeneDecksing

    10/53 Novoseek inferred disease relationships for ADAMTS13 gene (see all 53)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    purpura thrombotic thrombocytopenic 97.9 294 18332284 (6), 10961577 (4), 18223285 (3), 15561695 (3) (see all 99)
    idiopathic thrombotic thrombocytopenic purpura 94.5 14 17898570 (2), 20121555 (2), 17910638 (1), 15232311 (1) (see all 10)
    anemia hemolytic microangiopathic 89.1 3 19847791 (1), 11992240 (1), 14727262 (1)
    uremic syndrome 85 9 17058049 (1), 18561752 (1), 16167049 (1), 15298154 (1) (see all 9)
    thrombocytopenia 82.7 36 16528712 (2), 19260037 (2), 18988930 (2), 12434890 (1) (see all 26)
    anemia hemolytic 76.5 2 12923683 (1), 15524133 (1)
    von willebrand disease 71.3 12 15166929 (1), 15755288 (1), 14631548 (1), 14525793 (1) (see all 10)
    hemolytic-uremic syndrome 69.6 4 16411392 (1), 14631548 (1), 11992240 (1), 17627784 (1)
    hemolysis 64.1 18 19253359 (2), 12714826 (1), 17124092 (1), 12605663 (1) (see all 13)
    thrombosis 62.4 38 16201838 (2), 14631548 (2), 19180123 (2), 20058209 (2) (see all 22)

    Genetic Association Database (GAD): ADAMTS13
    Human Genome Epidemiology (HuGE) Navigator: ADAMTS13 (13 documents)

    Export disorders for ADAMTS13 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)
    About This Section

    PubMed articles for ADAMTS13 gene, integrated from 9 sources (see all 481):
    (articles sorted by number of sources associating them with ADAMTS13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. (PubMed id 14512317)1, 2, 4, 9 Pimanda J.E....Hogg P.J. (2004)
    2. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. (PubMed id 11557746)1, 2, 3, 9 Zheng X....Fujikawa K. (2001)
    3. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. (PubMed id 11535495)1, 2, 3 Fujikawa K.... Chung D. (2001)
    4. Zinc and calcium ions cooperatively modulate ADAMTS13 activity. (PubMed id 16286459)1, 2, 9 Anderson P.J.... Sadler J.E. (2006)
    5. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. (PubMed id 18031293)1, 4, 9 Camilleri R.S....Machin S.J. (2008)
    6. O-fucosylation is required for ADAMTS13 secretion. (PubMed id 17395589)1, 2, 9 Ricketts L.M....Majerus E.M. (2007)
    7. Lower levels of ADAMTS13 are associated with cardiova scular disease in young patients. (PubMed id 19439298)1, 4, 9 Bongers T.N....Leebeek F.W. (2009)
    8. Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population. (PubMed id 18581589)1, 4, 9 Jang M.J....Oh D. (2008)
    9. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. (PubMed id 12181489)1, 2, 9 Kokame K.... Fujimura Y. (2002)
    10. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). (PubMed id 15009458)1, 2, 9 Veyradier A....Girma J.P. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 11093 HGNC: 1366 AceView: ADAMTS13 Ensembl:ENSG00000160323 euGenes: HUgn11093
    ECgene: ADAMTS13 H-InvDB: ADAMTS13

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADAMTS13 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/ADAMTS13
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ADAMTS13
    SeattleSNPshttp://pga.gs.washington.edu/data/adamts13/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADAMTS13 gene:
    Search GeneIP for patents involving ADAMTS13

    GeneCards and IP:
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