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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
    Physical map
    ST13P 20p11.22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene C20orf56 20 chromosome 20 open reading frame 56 FOXA2 20p11 forkhead box A2 KRT18P3 Xq21 keratin 18 pseudogene 3 CYB5P4 20p11.2 cytochrome b-5 pseudogene 4 SSTR4 20p11.2 somatostatin receptor 4 THBD 20p11.2 thrombomodulin C1QR1 20pter-p12-3 complement component 1, q subcomponent, receptor 1 LOC200261 20p11.22 hypothetical protein LOC200261 NXT1 20p12-p11.2 NTF2-like export factor 1 LOC149913 20p11.21 hypothetical LOC149913 ZNF336 20p12.3-p11.21 zinc finger protein 336 NAPB 20p12.3-p11.21 N-ethylmaleimide-sensitive factor attachment protein, beta CSTL1 20p11.21 cystatin-like 1 CST11 20p11.21 cystatin 11 CST8 20p11.22-p11.21 cystatin 8 (cystatin-related epididymal specific) IMAGE:4837709 20p11.21 cystatin pseudogene LOC128820 20p11.21 cystatin pseudogene CST9L 20p11.21 cystatin 9-like (mouse) bA218C14.3 20p11.21 cystatin 9 CST3 20p11.22-p11.21 cystatin C (amyloid angiopathy and cerebral hemorrhage) CST4 20p11.2 cystatin S CST1 20p11.2 cystatin SN CSTP2 20p11.2 cystatin pseudogene 2 CST2 20p11.2 cystatin SA CST5 20p11.21 cystatin D CSTP1 20p11.2 cystatin pseudogene 1
    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