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THBD thrombomodulin [ Homo sapiens (human) ]

Gene ID: 7056, updated on 27-Nov-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

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

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