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FLASH GENE
Symbol THBD contributors: mct - updated : 22-01-2016
HGNC name thrombomodulin
HGNC id 11784
Corresponding disease
THBDD thrombophilia due to thrombomodulin defect
Location 20p11.21      Physical location : 23.026.270 - 23.030.301
Synonym name
  • fetomodulin and endothelial cell receptor for the thrombin
  • CD141 antigen
    • Synonym symbol(s) THRM, CD141, TRBM, AHUS6, BDCA3, THPH12, TM
    DNA
    TYPE functioning gene
    STRUCTURE 4.03 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure intronless
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4048 - 575 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtongue  highly
    Endocrinethyroid   highly
    Lymphoid/Immunespleen   highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier/lining   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal lectin-like (thrombin) domain, a C-type lectin domain
  • six cysteine rich domains, highly homologous to EGF
  • a serine/threonine rich domain carrying a glycosoaminoglycan external to the membrane
  • a transmembrane segment (TM1)
  • a short cytoplasmic tail, C type lectin of carbohydrate recognition domain
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Thbd
    intraspecies homolog to F7,F9,F10
    Homologene
    FAMILY
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • coagulation factor, specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin
  • surface marker of fetal development
  • exhibits a range of physiologically important anti-inflammatory, anti-coagulant, and anti-fibrinolytic properties and is an essential cofactor that impacts on multiple biologic processes
  • is an endothelial anticoagulant cofactor that promotes the thrombin-mediated formation of activated protein C that inhibits thrombus formation
  • participates in cell-cell adhesion through its extracellular lectin-like domain
  • has a critical role in skin differentiation and wound healing
  • is a thrombin receptor on endothelial cells that converts thrombin from a procoagulant to an anticoagulant enzyme
  • is critically involved in anticoagulation, anti-inflammation, cytoprotection and normal fetal development
  • may modulate allergic responses by inhibiting the activation of both eosinophils and mast cells
  • critical cofactor in protein C anticoagulant system
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with thrombin, the complex activating PROC
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • is a critical cofactor in the initiation of the protein C anticoagulant pathway
    • protein
  • thrombin downregulates thrombomodulin expression and activity in primary human endothelial cells
  • PDGFB may regulate THBD expression in VSMCs during vascular remodelling
  • is a cofactor for thrombin-mediated activation of protein C and CPB2 and thereby helps coordinate coagulation, anticoagulation, fibrinolysis, and inflammation
  • in contrast to stimulation of protein C activation, PF4 is shown here to inhibit activation of CPB2 by thrombin-THBD
  • RHBDL2 cleaves THBD at the transmembrane domain and causes the release of soluble THBD (sTHBD)
  • thrombin (thrombin binding region in the sixth EGF like repeat)THBD and ICAM1 were induced with MIF addition in a dose-dependent and time-dependent manner
  • is an ezrin-interacting protein that controls epithelial morphology and promotes collective cell migration
  • is a novel molecule that promotes apoptosis and vascular calcification by regulation of GAS6, presumably via EGF receptor/ERK axis
  • IKBKB regulates endothelial thrombomodulin in a KLF2-dependent manner
  • THBD promotes diabetic wound healing by regulating TLR4 expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) THBDD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in severe preeclampsia, and the decreased placental blood flow may be due to structural and functional impairment of the endothelium of the stem villi vessels
    tumoral     --low  
    plays a crucial role in melanocyte transformation and melanoma progression
            gain of function
    in neoepidermis during cutaneous wound healing
    Susceptibility
  • risk for arterial thrombosis and myocardial infarction
  • to idiopathic recurrent pregnancy loss (RPL)
  • to venous thrombosis risk (VTE)
    • Variant & Polymorphism SNP
  • THBD 1418T allele was associated with increasing the risk of RPL
  • 1418T allele frequency was associated with a reduced VTE risk
    • Candidate gene
    Marker
  • elevated plasma THBD and angiopoietin-2 predict the development of acute kidney injury in patients with acute myocardial infarction
    • Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    may represent a suitable therapeutic target for bladder cancer
    ANIMAL & CELL MODELS