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    THBD thrombomodulin [ Homo sapiens (human) ]

    Gene ID: 7056, updated on 16-Jul-2017
    Official Symbol
    THBDprovided by HGNC
    Official Full Name
    thrombomodulinprovided by HGNC
    Primary source
    HGNC:HGNC:11784
    See related
    Ensembl:ENSG00000178726 MIM:188040; Vega:OTTHUMG00000032053
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TM; THRM; AHUS6; BDCA3; CD141; THPH12
    Summary
    The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    20p11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (23045633..23049664, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23026270..23030301, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929707 Neighboring gene uncharacterized LOC105372569 Neighboring gene somatostatin receptor 4 Neighboring gene CD93 molecule Neighboring gene long intergenic non-protein coding RNA 656

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Atypical hemolytic-uremic syndrome 6 Compare labs
    Thrombophilia due to thrombomodulin defect
    MedGen: C1861173 OMIM: 614486 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of thrombomodulin (THBD) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Common Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Common Pathway of Fibrin Clot Formation, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
      Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
      Validated transcriptional targets of AP1 family members Fra1 and Fra2
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    negative regulation of blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of fibrinolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of platelet activation TAS
    Traceable Author Statement
    more info
    PubMed 
    response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    thrombomodulin
    Names
    CD141 antigen
    fetomodulin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012027.1 RefSeqGene

      Range
      5001..9032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_168

    mRNA and Protein(s)

    1. NM_000361.2NP_000352.1  thrombomodulin precursor

      See identical proteins and their annotated locations for NP_000352.1

      Status: REVIEWED

      Source sequence(s)
      AI285986, BG771668, M16552
      Consensus CDS
      CCDS13148.1
      UniProtKB/Swiss-Prot
      P07204
      Related
      ENSP00000366307.2, OTTHUMP00000030415, ENST00000377103.2, OTTHUMT00000078307
      Conserved Domains (4) summary
      cd03600
      Location:30171
      CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
      smart00179
      Location:441468
      EGF_CA; Calcium-binding EGF-like domain
      pfam09064
      Location:406439
      Tme5_EGF_like; Thrombomodulin like fifth domain, EGF-like
      pfam14670
      Location:245280
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      23045633..23049664 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      23026970..23031001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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