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    THBD thrombomodulin [ Homo sapiens (human) ]

    Gene ID: 7056, updated on 10-Dec-2024

    Summary

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    Official Symbol
    THBDprovided by HGNC
    Official Full Name
    thrombomodulinprovided by HGNC
    Primary source
    HGNC:HGNC:11784
    See related
    Ensembl:ENSG00000178726 MIM:188040; AllianceGenome:HGNC:11784
    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; BDCA-3; 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
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    Genomic context

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    See THBD in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23045633..23049672, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23105114..23109153, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23026270..23030309, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23016490-23017036 Neighboring gene somatostatin receptor 4 Neighboring gene Sharpr-MPRA regulatory region 8459 Neighboring gene uncharacterized LOC124904964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17627 Neighboring gene CD93 molecule

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Thrombomodulin exerts cytoprotective effect on low-dose UVB-irradiated HaCaT cells. Iwata M, et al. Biochem Biophys Res Commun, 2008 Dec 12. PMID 18940182
    2. In vitro functional testing of endothelial progenitor cells that overexpress thrombomodulin. Stroncek JD, et al. Tissue Eng Part A, 2011 Aug. PMID 21466416, Free PMC Article
    3. Sources of thrombomodulin in pre-eclampsia: renal dysfunction or endothelial damage? Dusse L, et al. Semin Thromb Hemost, 2011 Mar. PMID 21370217
    4. Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy. Riguetti MTP, et al. Nephron, 2024. PMID 38373411
    5. Downregulation of thrombomodulin, a novel target of Snail, induces tumorigenesis through epithelial-mesenchymal transition. Kao YC, et al. Mol Cell Biol, 2010 Oct. PMID 20713448, Free PMC Article

    See all (347) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.
      Title: Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.
    2. Altered release of thrombomodulin and HMGB1 in the placenta complicated with preeclampsia.
      Title: Altered release of thrombomodulin and HMGB1 in the placenta complicated with preeclampsia.
    3. Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin.
      Title: Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin.
    4. The role of thrombomodulin in modulating ITGB3 expression and its implications for triple-negative breast cancer progression.
      Title: The role of thrombomodulin in modulating ITGB3 expression and its implications for triple-negative breast cancer progression.
    5. Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).
      Title: Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).
    6. Variation in presepsin and thrombomodulin levels for predicting COVID-19 mortality.
      Title: Variation in presepsin and thrombomodulin levels for predicting COVID-19 mortality.
    7. On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.
      Title: On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.
    8. A missense mutation in lectin domain of thrombomodulin causing functional deficiency.
      Title: A missense mutation in lectin domain of thrombomodulin causing functional deficiency.
    9. Plasma Thrombomodulin Levels and Ischemic Stroke: A Population-Based Prognostic Cohort Study.
      Title: Plasma Thrombomodulin Levels and Ischemic Stroke: A Population-Based Prognostic Cohort Study.
    10. Role of the lectin-like domain of thrombomodulin in septic cardiomyopathy.
      Title: Role of the lectin-like domain of thrombomodulin in septic cardiomyopathy.
    Submit: New GeneRIF Correction See all GeneRIFs (263)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
    MedGen: C2752036 OMIM: 612926 GeneReviews: Genetic Atypical Hemolytic-Uremic Syndrome
    		not available
    Thrombomodulin-related bleeding disorder
    MedGen: C3280976 OMIM: 614486 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in blood coagulation, common pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of blood coagulation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of blood coagulation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of fibrinolysis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of platelet activation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to X-ray IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in zymogen activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of serine-type endopeptidase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    thrombomodulin
    Names
    CD141 antigen
    fetomodulin

    NCBI Reference Sequences (RefSeq)

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    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_000361.3 → NP_000352.1  thrombomodulin precursor

      See identical proteins and their annotated locations for NP_000352.1

      Status: REVIEWED

      Source sequence(s)
      AI285986, AL049651, BG771668, M16552
      Consensus CDS
      CCDS13148.1
      UniProtKB/Swiss-Prot
      P07204, Q8IV29, Q9UC32
      UniProtKB/TrEMBL
      B3KVV1
      Related
      ENSP00000366307.2, ENST00000377103.3
      Conserved Domains (4) summary
      cd03600
      Location:30 → 171
      CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
      smart00179
      Location:441 → 468
      EGF_CA; Calcium-binding EGF-like domain
      pfam09064
      Location:406 → 439
      Tme5_EGF_like; Thrombomodulin like fifth domain, EGF-like
      pfam14670
      Location:245 → 280
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      23045633..23049672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23105114..23109153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07204.2 GenPept UniProtKB/Swiss-Prot:P07204

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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