ADAMTS13 Gene
protein-coding GIFtS: 57
GCID: GC09P136279
|
|
ADAM metallopeptidase with thrombospondin type 1 motif,...(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
(Previous symbol: C9orf8)
| |
Aliases
for ADAMTS13 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 131 2 | | DKFZp434C23221 | | C9orf81 2 3 | | FLJ429931 | | VWF-CP1 | | MGC1188991 | | TTP1 2 5 | | MGC1189001 | | VWFCP1 2 5 | | 132 | | A Disintegrin-Like And Metalloprotease (Reprolysin Type) With ThrombospondinType 1 Motif, 131 2 | | ADAM-TS2 | | ADAM-TS132 3 | | A Disintegrin And Metalloproteinase With Thrombospondin Motifs 132 | | ADAMTS-132 3 | | EC 3.4.24.873 | | ADAM-TS 132 3 | | EC 3.4.24.148 | | Von Willebrand Factor-Cleaving Protease2 3 | | EC 3.4.24.828 | | VWF-Cleaving Protease2 3 | | |
Export aliases for ADAMTS13 gene to outside databasesPrevious GC identifers: GC09P127376 GC09P127843 GC09P129634 GC09P131563 GC09P133316 GC09P135276 GC09P105781 |
Summaries
for ADAMTS13 gene(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:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) proteinfamily. Members of the family share several distinct protein modules, including a propeptide region, ametalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members ofthis family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encodedby this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site ofTyr842-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 byRefSeq, Nov 2008)
UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8Function: Cleaves the vWF multimers in plasma into smaller forms
Gene Wiki entry for ADAMTS13
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 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
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: 9q34ADAMTS13 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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+,PATCHES 136,284,667-136,329,714 |
|
Proteins
for ADAMTS13 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9H0G3Alternative splicing: 3 isoforms: Q76LX8-1 Q76LX8-2 Q76LX8-3 Explore the universe of human proteins at neXtProt for ADAMTS13: NX_Q76LX8
Post-translational modifications:
Glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequenceC1-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 therepeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucoseresidue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS13. May also beC-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 secretion1
The precursor is processed by a furin endopeptidase which cleaves off the pro-domain1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q76LX8
2 DME Specific Peptides for ADAMTS13 (Q76LX8)
ADAMTS13 Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ADAMTS13 for ontologies About GeneDecksing
ADAMTS13 Antibody Products:
Assay Products for ADAMTS13: |
Protein
Domains /
Families
for ADAMTS13 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ADAMTS13 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q76LX8ProtoNet protein and cluster: Q76LX8 2 Blocks protein families: IPB000884 Thrombospondin IPB001762 Disintegrin
UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8Domain: The pro-domain is not required for folding or secretion and does not perform the common function of mainteningenzyme latencyDomain: The spacer domain is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains maymodulate this interactionSimilarity: Contains 2 CUB domainsSimilarity: Contains 1 disintegrin domainSimilarity: Contains 1 peptidase M12B domainSimilarity: Contains 8 TSP type-1 domains |
Function
for ADAMTS13 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8Function: Cleaves the vWF multimers in plasma into smaller formsCatalytic activity: Cleaves the vWF at the 842-Tyr- -Met-843 in the A2 domain of the vWF subunitCatalytic activity: The enzyme cleaves the von Willebrand factor at bond Tyr(842)- -Met(843) within the A2 domainEnzyme regulation: Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is notrequired for protease activityEnzyme Numbers (IUBMB): EC 3.4.24.142 EC 3.4.24.822 EC 3.4.24.871
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADAMTS13 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADAMTS13 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): ADAMTS13 (NM_139025) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ADAMTS13 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTS13 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS13 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
ADAMTS13 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ADAMTS13:
Animal Models:
Mouse knock-outs for ADAMTS13: Adamts13tm1Dgi Adamts13tm1Myta Adamts13tm2.1Dgi
6 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Adamts13):
ADAMTS13 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ADAMTS13 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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 I2DAbout this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
ADAMTS13 for ontologies About GeneDecksing
|
Drugs & Compounds
for ADAMTS13 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for ADAMTS13
1 HMDB Compound for ADAMTS13 About this table
10/19 Novoseek 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
|
Transcripts
for ADAMTS13 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ADAMTS13 gene (4 alternative transcripts): NM_139025.3 NM_139026.3 NM_139027.3 NM_139028.2 Unigene Cluster for ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13 Hs.131433 [show with all ESTs]Unigene Representative Sequence: AB06969810 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)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADAMTS13 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADAMTS13 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ADAMTS13 (NM_139025) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ADAMTS13 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTS13 |
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 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): AV647504 BQ721578 AW135955 AJ305314 NM_139025 AL136809 AF414401 NM_139027 AF414400 AY055376 AJ420811 AJ420810 CD636625 T12572 AV647043 AB069698 BI043018 NM_139028 AY358118 NM_139026 BI043112 AI202898 AI474749 AI806237
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
|
Expression
for ADAMTS13 gene
(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
CGAP TAG: CAGGCTGAAA
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, Q76LX8Tissue specificity: Plasma. Expressed primarily in liver
SABiosciences Expression via Pathway-Focused PCR Array including ADAMTS13: | Extracellular Matrix & Adhesion Molecules in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADAMTS13
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ADAMTS13 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADAMTS13 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADAMTS13 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS13 |
Orthologs
for ADAMTS13 gene
(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 3/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ADAMTS131 |
ADAM metallopeptidase with thrombospondin type 1 motif, more |
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, more |
50.97(n)
44.74(a) |
|
100320289 XM_002663221.2 XP_002663267.2 |
worm
(Caenorhabditis elegans) |
Secernentea |
mig-176 |
ADAM family mig-17 |
16(a) |
possible ortholog |
V(11446634-11449228) |
ENSEMBL Gene Tree for ADAMTS13 (if available)
TreeFam Gene Tree for ADAMTS13 (if available) |
Paralogs
for ADAMTS13 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ADAMTS13 gene
- ADAMTSL42 ADAMTSL12 ENSG000002156162 THSD42 ADAMTSL22 ADAMTSL32 PAPLN2 ADAMTSL52
13 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 ADAMTS3
ADAMTS5
ADAMTS13 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ADAMTS13
PGOHUM00000236785
|
Genomic Variants
for ADAMTS13 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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, Q76LX8Polymorphism: Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent onthe sequence context, the same polymorphisms might be either positive or negative modifiers of gene expression,thereby altering the phenotype of ADAMTS13 deficiency
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ADAMTS13 (136279459 - 136324508 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ADAMTS13
1 Indel: 70808
Human Gene Mutation Database (HGMD): ADAMTS13
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADAMTS13 |
|
Disorders
/ Diseases
for ADAMTS13 gene
(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.)
About This Section
|
ADAMTS13 for disorders About GeneDecksing
OMIM gene information: 604134
OMIM disorders: 274150
UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
Defects in ADAMTS13 are the cause of thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]; alsoknown as Upshaw-Schulman syndrome (USS). A hematologic disease characterized by hemolytic anemia with fragmentation oferythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever
20/55  diseases for ADAMTS13 (see all 55): About MalaCardsthrombotic thrombocytopenic purpura purpura hemolytic-uremic syndrome disseminated intravascular coagulation
von willebrand's disease atypical hemolytic-uremic syndrome thrombotic thrombocytopenic purpura, congenital bombay phenotype
type 1 von willebrand disease connective tissue disease hypersensitivity reaction type ii disease mixed connective tissue disease
catastrophic antiphospholipid syndrome evans' syndrome autoimmune thrombocytopenic purpura myocardial infarction
acute myocardial infarction antiphospholipid syndrome coronary heart disease hellp syndrome
6 diseases from the University of Copenhagen DISEASES database for ADAMTS13:Thrombotic thrombocytopenic purpura Thrombocytopenia Anemia Von Willebrand's disease
Autoimmune thrombocytopenic purpura Kidney failure 10/53 Novoseek 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
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Publications
for ADAMTS13 gene (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
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PubMed articles for ADAMTS13 gene, integrated from 9 sources (see all 467):
(articles sorted by number of sources associating them with ADAMTS13) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- Zinc and calcium ions cooperatively modulate ADAMTS13 activity. (PubMed id 16286459)1, 2, 9 Anderson P.J.... Sadler J.E. (2006)
- O-fucosylation is required for ADAMTS13 secretion. (PubMed id 17395589)1, 2, 9 Ricketts L.M....Majerus E.M. (2007)
- 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)
- 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)
- ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor- cleaving protease activity by recombinant human ADAMTS13. (PubMed id 12614216)1, 2, 9 Antoine G.... Scheiflinger F. (2003)
- ADAMTS13 mutations and polymorphisms in congenital th rombotic thrombocytopenic purpura. (PubMed id 19847791)1, 2, 9 Lotta L.A....Peyvandi F. (2010)
- The first deletion mutation in the TSP1-6 repeat doma in of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura. (PubMed id 19116307)1, 2, 9 Palla R....Peyvandi F. (2009)
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External Searches for ADAMTS13 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ADAMTS13 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ADAMTS13 gene
(According to HUGE)
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Specialized Databases showing ADAMTS13 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ADAMTS13 | Pharmacogenomics, SNPs, Pathways | | Wikipedia | http://en.wikipedia.org/wiki/ADAMTS13 | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ADAMTS13 | | SeattleSNPs | http://pga.gs.washington.edu/data/adamts13/ |
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| Patent Information for ADAMTS13 gene:
Search GeneIP for patents involving ADAMTS13
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ADAMTS13 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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