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ADAMTS13 Gene

protein-coding   GIFtS: 60

GC09P135276
ADAM metallopeptidase with thrombospondin type 1 motif, 13
(Previous names: a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C9orf8)
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Aliases &
Descriptions
for ADAMTS13

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
ADAM-TS13 3
ADAMTS-13 3
C9orf8 2, 3
DKFZp434C2322 1, 2
EC 3.4.24.- 3
FLJ42993 1, 2
MGC118899 1, 2
MGC118900 1, 2
OTTHUMP00000022496 2
OTTHUMP00000022497 2
OTTHUMP00000022498 2
TTP 1, 2, 5
VWFCP 1, 2, 5
vWF-CP 1, 2, 3
Descriptions
ADAM metallopeptidase with thrombospondin type 1 motif, 13 2
ADAM-TS 13 3
a disintegrin-like and metalloprotease (reprolysin type)
with thrombospondin type 1 motif, 13 1, 2
vWF-cleaving protease 2, 3
von Willebrand factor-cleaving protease 2, 3
External Ids
HGNC: 13661
Entrez Gene: 110932
UniProtKB: Q76LX83
Ensembl: ENSG000001603237
Search outside databases for aliases for ADAMTS13 gene

Previous GC identifers: GC09P127376 GC09P127843 GC09P129634 GC09P131563 GC09P133316

Summaries
for ADAMTS13

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

 EntrezGene summary for ADAMTS13:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin
motif) 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 is the von Willebrand
Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of
the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic
purpura. Alternative splicing of this gene generates multiple transcript variants encoding
different isoforms. [provided by RefSeq]

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

Gene Wiki entry for ADAMTS13

Genomic Location
for ADAMTS13

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ADAMTS13 gene  

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)

GeneLoc gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P135276:     (about GC identifiers)

Start:
 135,276,941 bp from pter
End:
 135,314,329 bp from pter
Size:
 37,389 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000009.10  NT_035014.4  

Proteins
for ADAMTS13

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
Secondary accessions: Q6UY16 Q710F6 Q711T8 Q96L37 Q9H0G3
Alternative splicing: 3 isoforms:  Q76LX8-1   Q76LX8-2   Q76LX8-3   

Post-translational modifications:

  • May contain a C-mannosylation site and O-fucosylation sites in the TSP type-1 domains1
  • The precursor is processed by a furin endopeptidase which cleaves off the pro-domain1


    • REFSEQ proteins (3 alternative transcripts): 
    NP_620594.1  NP_620595.1  NP_620596.2  


    ENSEMBL proteins: 
    ENSP00000360997 ENSP00000347927 ENSP00000348997 ENSP00000360984 ENSP00000360979 ENSP00000345120 
    ENSP00000360978 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    R&D Systems Recombinant & Natural Proteins for ADAMTS13
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ADAMTS13)
    Human Recombinant Proteins from Abnova (ADAMTS13)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005578 proteinaceous extracellular matrix TAS11557746
    GO:0009986 cell surface NAS11557746
    About this table

    Antibodies for ADAMTS13: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ADAMTS13
    R&D Systems Antibodies for ADAMTS13
    Antibodies from Abcam (ADAMTS13), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ADAMTS13)
    Novus Biologicals Antibodies for ADAMTS13

    Assays for ADAMTS13: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for ADAMTS13

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro domains/families:
     IPR000884 Thrombospondin_1_rpt
     IPR018358 Disintegrin_CS
     IPR001590 Peptidase_M12B
     IPR006025 Pept_M_Zn_BS
     IPR013273 Peptidase_M12B_ADAM-TS


       GeneDecks  ADAMTS13 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q76LX8

    ProtoNet protein and cluster: Q76LX8

    2 Blocks protein families:
    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

    Gene Function
    for ADAMTS13

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (ADAMTS13)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ADAMTS13)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_139025

                  Applied Biosystems Silencer® siRNAs for ADAMTS13

                  Sigma-Aldrich siRNA and siRNA Panels for ADAMTS13  
                         Sigma-Aldrich shRNA Panels and shRNA for ADAMTS13  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ADAMTS13
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_139025
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_139025
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_139025 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_139025

    UniProtKB/Swiss-Prot: 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
    Enzyme regulation: Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of
    the pro-domain is not required for protease activity
    Enzyme Number (IUBMB): EC 3.4.24.- 

    6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Adamts13):

    hematopoietic systemhomeostasis/metabolismimmune systemlife span-post-weaning/agingno phenotypic analysis
    normal

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222 metalloendopeptidase activity IEA--
    GO:0005178 integrin binding TAS11557746
    GO:0005509 calcium ion binding TAS11557746
    GO:0005515 protein binding IPI12775718
    GO:0008233 peptidase activity IEA--
    About this table

    Pathways & Interactions
    for ADAMTS13

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  ADAMTS13  (Your Favorite Gene powered by Ingenuity) 
     Lysine Degradation

       GeneDecks  ADAMTS13 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  ADAMTS13 


    5/8 Interacting proteins for ADAMTS13 (ENSP000003609973 Q76LX81) via UniProtKB, MINT, and/or STRING (see all 8 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VWFP042751STRING (score=.999) EBI-981764, EBI-981819
    CFHENSP000003563993STRING (score=.942)
    F8ENSP000003278953STRING (score=.893)
    CLUENSP000003698123STRING (score=.84)
    IGHV3-30ENSP000003750223STRING (score=.84)
    About this table

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

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

    Drugs & Compounds
    for ADAMTS13

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for ADAMTS13
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ADAMTS13
    9 Novoseek chemical compound relationships for ADAMTS13 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 18.52 14 16286459 (5), 16201838 (1), 15809291 (1), 14631548 (1) (see all 10)
    fibrinogen 10.93 4 17561859 (2), 18988930 (1)
    urea 10.27 2 16899464 (1), 12793081 (1)
    barium 9.97 4 16286459 (3), 16269936 (1)
    steroid 4.97 1 16787872 (1)
    calcium 1.09 6 16286459 (5), 18609162 (1)
    endotoxin 0.00 2 16113782 (1)
    nacl 0.00 1 16899464 (1)
    chloride 0.00 6 15809291 (3), 16899464 (2)
    About this table


    Transcripts
    for ADAMTS13

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (ADAMTS13)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ADAMTS13)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_139025

                  Sigma-Aldrich siRNA and siRNA Panels for ADAMTS13  
                         Sigma-Aldrich shRNA Panels and shRNA for ADAMTS13  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_139025  NM_139026  NM_139027  

    REFSEQ mRNAs for ADAMTS13 gene (3 alternative transcripts): 

    NM_139025.3   NM_139026.3   NM_139027.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_139025  NM_139026  NM_139027  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_139025
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_139025
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_139025 

    Additional cDNA 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 

    14 DOTS entries:

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

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

    CD636625 NM_139025 AI202898 NM_139028 AY358118 BI043018 AF414401 AF414400 
    AV647043 AW135955 T12572 NM_139027 AJ420810 AV647504 AL136809 AY055376 
    AJ305314 BI043112 AB069698 AJ420811 BQ721578 NM_139026 AK124983 AA493484 

    highest scoring ESTs for ADAMTS13:

    AB069698 AF414401 AI023700 AI190297 AI202898 AI245927 AI474749 AI927983 AJ305314 AJ420810 

    Unigene Cluster for ADAMTS13:

    ADAM metallopeptidase with thrombospondin type 1 motif, 13
    Hs.131433  [show with all ESTs]
    Unigene Representative Sequence: AB069698


    GeneLoc Exon Structure

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

    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:                                                                                                      

    About this scheme

    ECgene alternative splicing isoforms for ADAMTS13

    7 Ensembl transcripts including schematic representations:
    ENST00000371929  ENST00000355699  ENST00000356589  ENST00000371916  ENST00000371911  ENST00000338351  
    ENST00000371910  

    Expression
    for ADAMTS13

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ADAMTS13 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ADAMTS13

    1 / 2 / 3

    6 probe-sets matching ADAMTS13 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		83126_at2, 3 U95-E 1 1.00 1.00 0.25 0.54 AI245927 0.80 1.00 0.91 1
    74641_at2, 3 U95-E 1 1.00 1.00 0.96 1.46 AI927983 0.80 1.00 0.91 1

    		223844_at2, 3 U133-B 1 1.00 1.00 -- -- AL136809 0.80 1.00 0.91 1

    		220208_at2, 3 U133-A 1 1.00 1.00 -- -- NM_017587 0.20 1.00 0.72 1

    		223844_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		220208_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ADAMTS13 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CAGGCTGAAA

    SOURCE GeneReport for Unigene cluster: Hs.131433

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

    Orthologs
    for ADAMTS13

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for ADAMTS13 gene from 4 species
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    cow
    (Bos taurus)    		 ADAMTS131   -- ADAM metallopeptidase with thrombospondin type 1 motif, more 81.01(n)
    75.91(a)    		 532272  XM_610784.2  XP_610784.2 
    rat
    (Rattus norvegicus)    		 Adamts131   -- ADAM metallopeptidase with thrombospondin type 1 motif, more 76.26(n)
    70.58(a)    		 362091  XM_342395.3  XP_342396.3 
    mouse
    (Mus musculus)    		 Adamts131, 5 25
    		 a disintegrin-like and metallopeptidase (reprolysin more1, 5 76.59(n)1
    71.65(a)1    		 2790281  NM_001001322.21  NP_001001322.11 
     AB0713025  AB0954455  (see all 12)
    chicken
    (Gallus gallus)    		 ADAMTS131   -- ADAM metallopeptidase with thrombospondin type 1 motif, more 58.65(n)
    51.9(a)    		 417152  XM_415435.2  XP_415435.2 
    About this table        Species with no ortholog for ADAMTS13

    ENSEMBL Gene Tree for ADAMTS13

    Paralogs
    for ADAMTS13

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ADAMTS13 gene
    ADAMTS172  ADAMTS192  

    SNPs/Variants
    for ADAMTS13

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    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


    10/313 NCBI SNPs in ADAMTS13 are shown (see all 313 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 59)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs23016121,2
    		A,C,F,H135291803(+) TGTCGC/GAACAG 3 Q/E mis118Minor allele frequency- G:0.24EU EA WA NA NS 2928
    --
    rs6855231,2
    		C,F,H135300729(-) CTGCCG/ACAGGG 3 V/A mis1 ese314Minor allele frequency- A:0.18EA NA EU WA NS 1088
    rs360906241,2
    		C,F135295373(+) TGGTCG/ATGTCG 3 H/R mis17Minor allele frequency- A:0.03NA NS EU EA WA 592
    --
    rs31186661,2
    		C,F135275951(+) cctgtA/Gatccc 3 -- ng512Minor allele frequency- G:0.27NS 94
    --
    rs342658761,2
    		C,F135277028(+) TTCCTT/CGTGAA 3 -- ut512Minor allele frequency- C:0.04NS 94
    --
    rs285032571,2
    		C,F135309410(+) GCACTG/ACTAGA 3 T/A mis1 ese32Minor allele frequency- A:0.03NS 94
    --
    rs340241431,2
    		C,F135277403(+) ACCCCC/TGGGCA 3 R/W mis12Minor allele frequency- T:0.06NS 94
    --
    rs284889801,2
    		C,F135275560(+) TGGCGG/ACATAA 3 -- ng512Minor allele frequency- A:0.09NS 94
    --
    rs362182351,2
    		F135276068(+) CAGGCG/ATGATG 3 -- ng512Minor allele frequency- A:0.02NS 94
    --
    rs362179401,2
    		F135275464(+) TATGCA/GAATGA 3 -- ng512Minor allele frequency- G:0.02NS 94
    About this table

    HapMap Linkage Disequilibrium images for ADAMTS13 (up to first 250kb)

    Disorders & Mutations
    for ADAMTS13

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 604134   disorders: 274150  

    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8

  • Defects in ADAMTS13 are the cause of congenital thrombotic thrombocytopenic purpura (TTP)
    [MIM:274150]; also known as Upshaw-Schulman syndrome (USS). Congenital TTP is a life-threatening
    systemic disorder due to constitutional deficiency of vWF-cleaving protease. Typical features are
    hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal
    neurologic findings, decreased renal function and fever. Congenital TTP is characterized by
    neonatal onset, response to fresh plasma infusion and frequent relapses. Inheritance pattern is
    autosomal recessive. In sporadic cases, TTP is associated with deficiency of vWF-cleaving protease
    due to the presence of inhibiting autoantibodies (acquired TTP or autoimmune TTP). Acquired TTP is
    characterized by adult-onset. TTP shares overlapping clinical features with hemolytic-uremic
    syndrome (HUS) [MIM:235400], a disease characterized by acute renal failure, thrombocytopenia, and
    microangiopathic hemolytic anemia associated with distorted erythrocytes

    • 10/48 Novoseek disease relationships for ADAMTS13 gene (see all 48 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    purpura thrombotic thrombocytopenic 97.77 263 18332284 (6), 10961577 (4), 18223285 (3), 15561695 (3) (see all 99)
    idiopathic thrombotic thrombocytopenic purpura 93.22 10 17898570 (2), 17910638 (1), 15232311 (1), 14727262 (1) (see all 7)
    anemia hemolytic microangiopathic 88.98 2 11992240 (1), 14727262 (1)
    uremic syndrome 84.88 9 17058049 (1), 18561752 (1), 16167049 (1), 15298154 (1) (see all 9)
    thrombocytopenia 81.95 31 16528712 (2), 18988930 (2), 12434890 (1), 16855352 (1) (see all 23)
    anemia hemolytic 75.37 2 12923683 (1), 15524133 (1)
    von willebrand disease 73.08 12 15166929 (1), 15755288 (1), 14631548 (1), 14525793 (1) (see all 10)
    hemolytic-uremic syndrome 69.44 4 16411392 (1), 14631548 (1), 11992240 (1), 17627784 (1)
    hemolysis 64.10 16 12714826 (1), 17124092 (1), 12605663 (1), 17150084 (1) (see all 12)
    evans syndrome 63.05 1 12393505 (1)
    About this table

    Human Gene Mutation Database: ADAMTS13
    Genetic Association Database: ADAMTS13
    Human Genome Epidemiology Navigator: ADAMTS13 (8 documents)

    Medical News
    for ADAMTS13

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for ADAMTS13

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/341 PubMed articles for ADAMTS13 gene (see all 341 ):

    Search for ADAMTS13

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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    Genome Databases showing ADAMTS13

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 11093 HGNC: 1366 AceView: ADAMTS13 Ensembl:ENSG00000160323 euGenes: HUgn11093
    ECgene: ADAMTS13 H-InvDB: ADAMTS13

    Other Databases showing ADAMTS13

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing ADAMTS13

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    Wikipedia http://en.wikipedia.org/wiki/ADAMTS13
    GeneReviewshttp://www.genetests.org/query?gene=ADAMTS13
    SeattleSNPshttp://pga.gs.washington.edu/data/adamts13/

    Licensable Technologies
    for ADAMTS13

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for ADAMTS13

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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