ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)

2007-02-01  

Identity

HGNC
ADAMTS13
LOCATION
9q34.2
LOCUSID
11093
ALIAS
ADAM-TS13,ADAMTS-13,C9orf8,VWFCP,vWF-CP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11093
MIM: 604134
HGNC: 1366
Ensembl: ENSG00000160323

Variants:

dbSNP: 11093
ClinVar: 11093
TCGA: ENSG00000160323
COSMIC: ADAMTS13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160323ENST00000355699Q76LX8
ENSG00000160323ENST00000356589Q76LX8
ENSG00000160323ENST00000371910A0A0C4DFV8
ENSG00000160323ENST00000371911A0A0B4J229
ENSG00000160323ENST00000371916E7EV88
ENSG00000160323ENST00000371929Q76LX8
ENSG00000160323ENST00000474918F6V803
ENSG00000160323ENST00000495234A0A0B4J229

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378896022024Persistently elevated sFlt-1 and recovery of reduced ADAMTS13 activity in malignant hypertension.0
381607292024ADAMTS-13 conformation influences autoimmune recognition in immune thrombotic thrombocytopenic purpura.0
381773762024ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress.0
386080662024Evaluating the potential mediating role of ADAMTS13 activity in the relationship between obesity and the severity of COVID-19: A retrospective cohort study.0
378896022024Persistently elevated sFlt-1 and recovery of reduced ADAMTS13 activity in malignant hypertension.0
381607292024ADAMTS-13 conformation influences autoimmune recognition in immune thrombotic thrombocytopenic purpura.0
381773762024ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress.0
386080662024Evaluating the potential mediating role of ADAMTS13 activity in the relationship between obesity and the severity of COVID-19: A retrospective cohort study.0
354846522023ADAMTS13 conformation is closed in non-immune acquired thrombotic thrombocytopenic purpura of unidentified pathophysiology.5
362817812023Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.0
363063392023ADAMTS13 conformation and immunoprofiles in Japanese patients with immune-mediated thrombotic thrombocytopenic purpura.2
363686922023From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease.1
365372172023An update on the pathogenesis and diagnosis of thrombotic thrombocytopenic purpura.3
366961982023In vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain.0
367368322023Impact of the von Willebrand factor-ADAMTS-13 axis on the risk of future venous thromboembolism.4

Citation

Dessen P

ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45779/adamts13-(adam-metallopeptidase-with-thrombospondin-type-1-motif-13)