Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADAMTS13 Gene

Aliases for ADAMTS13 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 13 2 3
  • Von Willebrand Factor-Cleaving Protease 3 4
  • VWF-Cleaving Protease 3 4
  • ADAM-TS13 3 4
  • ADAMTS-13 3 4
  • C9orf8 3 4
  • VWF-CP 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 13 3
  • EC 3.4.24.14 56
  • EC 3.4.24.82 56
  • EC 3.4.24.87 4
  • ADAM-TS 13 4
  • VWFCP 3

External Ids for ADAMTS13 Gene

Previous HGNC Symbols for ADAMTS13 Gene

  • C9orf8

Previous GeneCards Identifiers for ADAMTS13 Gene

  • GC09P127376
  • GC09P127843
  • GC09P129634
  • GC09P131563
  • GC09P133316
  • GC09P135276
  • GC09P136279
  • GC09P105781

Summaries for ADAMTS13 Gene

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 Thrombotic Thrombocytopenic Purpura, Congenital and Thrombotic Thrombocytopenic Purpura. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include calcium ion binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTS9.

UniProtKB/Swiss-Prot for ADAMTS13 Gene

  • Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.

Gene Wiki entry for ADAMTS13 Gene

Additional gene information for ADAMTS13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS13 Gene

Genomics for ADAMTS13 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS13 Gene

Promoters and enhancers for ADAMTS13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I133420 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 559.9 +6.9 6895 2.3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B BATF RAD21 ZNF207 ATF7 BCLAF1 ADAMTS13 SURF1 CACFD1 SURF2 SNORD24 SNORD36A SNORD36B SNORD36C RPL7A MED22
GH09I133416 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 13.2 +3.6 3638 3.5 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 REXO4 SURF1 SURF6 MED22 RPL7A ENSG00000273473 GTF3C5 DDX31 BRD3OS ADAMTS13
GH09I133367 Enhancer 1.2 Ensembl ENCODE dbSUPER 22 -44.0 -43964 6 FOXA2 INSM2 YY1 SCRT2 RUNX3 EGR2 SMAD5 RXRA CEBPB REST PIR38866 PIR60170 SURF6 SURF1 ADAMTS13 RPL7A SNORD24 MED22 SNORD36B ENSG00000201451
GH09I133373 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.3 -38.9 -38867 3.1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF207 ZNF143 FOS DEK SP3 STKLD1 SURF4 SURF6 SURF1 LOC100130548 WDR5 GTF3C5 ADAMTS13 PIR60170
GH09I133346 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 -65.5 -65522 4.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 MED22 RPL7A GC09P133408 GC09P133432 GC09P133433 GC09P133435 PIR63017 SNORD36A SNORD36B SNORD24
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAMTS13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS13 gene promoter:

Genomic Locations for ADAMTS13 Gene

Genomic Locations for ADAMTS13 Gene
chr9:133,414,339-133,459,403
(GRCh38/hg38)
Size:
45,065 bases
Orientation:
Plus strand
chr9:136,279,459-136,324,508
(GRCh37/hg19)

Genomic View for ADAMTS13 Gene

Genes around ADAMTS13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS13 Gene

Proteins for ADAMTS13 Gene

  • Protein details for ADAMTS13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76LX8-ATS13_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    Protein Accession:
    Q76LX8
    Secondary Accessions:
    • Q6UY16
    • Q710F6
    • Q711T8
    • Q96L37
    • Q9H0G3
    • Q9UGQ1

    Protein attributes for ADAMTS13 Gene

    Size:
    1427 amino acids
    Molecular mass:
    153604 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88485.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66743.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADAMTS13 Gene

    Alternative splice isoforms for ADAMTS13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS13 Gene

Selected DME Specific Peptides for ADAMTS13 Gene

Q76LX8:
  • VCGGDNS
  • CSRSCGGG

Post-translational modifications for ADAMTS13 Gene

  • 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.
  • The precursor is processed by a furin endopeptidase which cleaves off the pro-domain.
  • Glycosylation at posLast=142142, Asn146, Trp387, posLast=399399, posLast=552552, Asn579, posLast=614614, Asn667, posLast=698698, posLast=707707, Ser757, Asn828, posLast=907907, posLast=965965, posLast=10271027, posLast=10871087, Asn1235, and Asn1354

Domains & Families for ADAMTS13 Gene

Gene Families for ADAMTS13 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q76LX8

UniProtKB/Swiss-Prot:

ATS13_HUMAN :
  • The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency.
Domain:
  • The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency.
  • The globular cysteineless spacer domain adopts a jelly-roll topology, and is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains may modulate this interaction.
genes like me logo Genes that share domains with ADAMTS13: view

Function for ADAMTS13 Gene

Molecular function for ADAMTS13 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
The enzyme cleaves the von Willebrand factor at bond 842-Tyr- -Met-843 within the A2 domain.
UniProtKB/Swiss-Prot EnzymeRegulation:
Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is not required for protease activity. Dependence on calcium for proteolytic activity is mediated by the high affinity site.
UniProtKB/Swiss-Prot Function:
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.

Enzyme Numbers (IUBMB) for ADAMTS13 Gene

Phenotypes From GWAS Catalog for ADAMTS13 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005178 integrin binding TAS 11557746
GO:0005509 calcium ion binding TAS 11557746
GO:0005515 protein binding IPI 12775718
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS13: view
genes like me logo Genes that share phenotypes with ADAMTS13: view

Human Phenotype Ontology for ADAMTS13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTS13 Gene

MGI Knock Outs for ADAMTS13:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADAMTS13 Gene

Localization for ADAMTS13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS13 Gene

Secreted. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTS13 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
lysosome 1

Gene Ontology (GO) - Cellular Components for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix TAS 11557746
GO:0005615 extracellular space IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0009986 cell surface NAS 11557746
genes like me logo Genes that share ontologies with ADAMTS13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS13 Gene

Pathways & Interactions for ADAMTS13 Gene

genes like me logo Genes that share pathways with ADAMTS13: view

Gene Ontology (GO) - Biological Process for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 11535495
GO:0007160 cell-matrix adhesion NAS 11557746
GO:0007229 integrin-mediated signaling pathway NAS 11557746
GO:0007596 blood coagulation IEA --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with ADAMTS13: view

No data available for SIGNOR curated interactions for ADAMTS13 Gene

Drugs & Compounds for ADAMTS13 Gene

(14) Drugs for ADAMTS13 Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
rituximab Approved Pharma Therapeutic Antibodies 1808
calcium Approved Nutra 0
Antirheumatic Agents Pharma 11532

(6) Additional Compounds for ADAMTS13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADAMTS13: view

Transcripts for ADAMTS13 Gene

Unigene Clusters for ADAMTS13 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS13 Gene

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: - - - - - - - - - - -
SP6: - - - - -
SP7:
SP8: -
SP9: - - - -
SP10:

ExUns: 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ADAMTS13 Gene

GeneLoc Exon Structure for
ADAMTS13
ECgene alternative splicing isoforms for
ADAMTS13

Expression for ADAMTS13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS13 Gene

This gene is overexpressed in Liver (x7.2).

Protein differential expression in normal tissues from HIPED for ADAMTS13 Gene

This gene is overexpressed in Serum (59.8) and Plasma (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS13 Gene



Protein tissue co-expression partners for ADAMTS13 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS13 Gene:

ADAMTS13

SOURCE GeneReport for Unigene cluster for ADAMTS13 Gene:

Hs.131433

mRNA Expression by UniProt/SwissProt for ADAMTS13 Gene:

Q76LX8-ATS13_HUMAN
Tissue specificity: Plasma. Expressed primarily in liver.

Evidence on tissue expression from TISSUES for ADAMTS13 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Bone marrow(4.2)
  • Blood(2.9)
  • Kidney(2.8)
  • Heart(2.4)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS13 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ADAMTS13: view

Orthologs for ADAMTS13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS13 33 34
  • 98.94 (n)
dog
(Canis familiaris)
Mammalia ADAMTS13 33 34
  • 79.89 (n)
cow
(Bos Taurus)
Mammalia ADAMTS13 33 34
  • 77.88 (n)
mouse
(Mus musculus)
Mammalia Adamts13 33 16 34
  • 76.64 (n)
rat
(Rattus norvegicus)
Mammalia LOC102554393 33
  • 76.32 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS13 34
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS13 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS13 33 34
  • 61.96 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 20 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts13 33
  • 54.12 (n)
zebrafish
(Danio rerio)
Actinopterygii adamts13 33 34
  • 50.35 (n)
Species where no ortholog for ADAMTS13 was found in the sources mined by GeneCards:
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTS13 Gene

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

Paralogs for ADAMTS13 Gene

Pseudogenes.org Pseudogenes for ADAMTS13 Gene

genes like me logo Genes that share paralogs with ADAMTS13: view

Variants for ADAMTS13 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS13 Gene

ATS13_HUMAN-Q76LX8
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.

Sequence variations from dbSNP and Humsavar for ADAMTS13 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1055432 benign, not specified, Upshaw-Schulman syndrome 133,459,117(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1060499780 likely-pathogenic, Upshaw-Schulman syndrome 133,455,576(+) GGG/GG coding_sequence_variant, frameshift, genic_downstream_transcript_variant, intron_variant
rs11575933 conflicting-interpretations-of-pathogenicity, Upshaw-Schulman syndrome, not specified 133,436,943(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs121908467 pathogenic, Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] 133,424,434(+) C/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs121908468 pathogenic, Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] 133,448,718(+) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS13 Gene

Variant ID Type Subtype PubMed ID
dgv12933n54 CNV gain+loss 21841781
dgv12934n54 CNV gain 21841781
dgv12935n54 CNV loss 21841781
dgv12936n54 CNV gain+loss 21841781
esv26825 CNV loss 19812545
esv2739138 CNV deletion 23290073
nsv1076213 CNV deletion 25765185
nsv1125319 OTHER inversion 24896259
nsv615622 CNV gain 21841781
nsv615623 CNV loss 21841781
nsv615636 CNV loss 21841781

Variation tolerance for ADAMTS13 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS13 Gene

Human Gene Mutation Database (HGMD)
ADAMTS13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS13

Disorders for ADAMTS13 Gene

MalaCards: The human disease database

(32) MalaCards diseases for ADAMTS13 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATS13_HUMAN
  • 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. {ECO:0000269 PubMed:11586351, ECO:0000269 PubMed:12181489, ECO:0000269 PubMed:12393505, ECO:0000269 PubMed:12614216, ECO:0000269 PubMed:12753286, ECO:0000269 PubMed:14512317, ECO:0000269 PubMed:14563640, ECO:0000269 PubMed:15009458, ECO:0000269 PubMed:15126318, ECO:0000269 PubMed:15327386, ECO:0000269 PubMed:16160007, ECO:0000269 PubMed:16449289, ECO:0000269 PubMed:16453338, ECO:0000269 PubMed:16796708, ECO:0000269 PubMed:16807643, ECO:0000269 PubMed:17003922, ECO:0000269 PubMed:18443791, ECO:0000269 PubMed:19055667, ECO:0000269 PubMed:19116307, ECO:0000269 PubMed:22075512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAMTS13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAMTS13: view

No data available for Genatlas for ADAMTS13 Gene

Publications for ADAMTS13 Gene

  1. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. (PMID: 19847791) Lotta LA … Peyvandi F (Human mutation 2010) 3 4 22 58
  2. Lower levels of ADAMTS13 are associated with cardiovascular disease in young patients. (PMID: 19439298) Bongers TN … Leebeek FW (Atherosclerosis 2009) 3 22 44 58
  3. Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population. (PMID: 18581589) Jang MJ … Oh D (Yonsei medical journal 2008) 3 22 44 58
  4. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. (PMID: 18031293) Camilleri RS … Machin SJ (Journal of thrombosis and haemostasis : JTH 2008) 3 22 44 58
  5. O-fucosylation is required for ADAMTS13 secretion. (PMID: 17395589) Ricketts LM … Majerus EM (The Journal of biological chemistry 2007) 3 4 22 58

Products for ADAMTS13 Gene

Sources for ADAMTS13 Gene

Content
Loading form....