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Aliases for THBD Gene

Aliases for THBD Gene

  • Thrombomodulin 2 3
  • THRM 3 4 6
  • CD141 Antigen 3 4
  • Fetomodulin 3 4
  • THPH12 3 6
  • AHUS6 3 6
  • TM 3 4
  • BDCA3 3
  • CD141 3

External Ids for THBD Gene

Summaries for THBD Gene

Entrez Gene Summary for THBD Gene

  • 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]

GeneCards Summary for THBD Gene

THBD (Thrombomodulin) is a Protein Coding gene. Diseases associated with THBD include thrombophilia due to thrombomodulin defect and hemolytic uremic syndrome, atypical 6. Among its related pathways are Hemostasis and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include calcium ion binding and carbohydrate binding. An important paralog of this gene is CD93.

UniProtKB/Swiss-Prot for THBD Gene

  • Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated

Gene Wiki entry for THBD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THBD Gene

Genomics for THBD Gene

Genomic Location for THBD Gene

Start:
23,045,633 bp from pter
End:
23,049,741 bp from pter
Size:
4,109 bases
Orientation:
Minus strand

Genomic View for THBD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for THBD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THBD Gene

Proteins for THBD Gene

  • Protein details for THBD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07204-TRBM_HUMAN
    Recommended name:
    Thrombomodulin
    Protein Accession:
    P07204
    Secondary Accessions:
    • Q8IV29
    • Q9UC32

    Protein attributes for THBD Gene

    Size:
    575 amino acids
    Molecular mass:
    60329 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for THBD Gene

neXtProt entry for THBD Gene

Proteomics data for THBD Gene at MOPED

Post-translational modifications for THBD Gene

  • N-glycosylated.
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn47, Asn115, Asn116, Asn382, Asn409, Ser490, and Ser492

Other Protein References for THBD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for THBD Gene

Domains for THBD Gene

Gene Families for THBD Gene

HGNC:
  • CD :CD molecules

UniProtKB/Swiss-Prot:

TRBM_HUMAN
Domain:
  • Contains 1 C-type lectin domain.:
    • P07204
  • Contains 6 EGF-like domains.:
    • P07204
genes like me logo Genes that share domains with THBD: view

Function for THBD Gene

Molecular function for THBD Gene

GENATLAS Biochemistry: thrombomodulin coagulation factor complexing with thrombin,the complex activating PROC,with mutations in the promoter region putatively associated with a risk for arterial thrombosis and myocardial infarction
UniProtKB/Swiss-Prot Function: Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated

Gene Ontology (GO) - Molecular Function for THBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 2822087
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 14691232
GO:0030246 carbohydrate binding --
genes like me logo Genes that share ontologies with THBD: view
genes like me logo Genes that share phenotypes with THBD: view

Animal Models for THBD Gene

MGI Knock Outs for THBD:

miRNA for THBD Gene

miRTarBase miRNAs that target THBD

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for THBD Gene

Localization for THBD Gene

Subcellular locations from UniProtKB/Swiss-Prot for THBD Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for THBD Gene COMPARTMENTS Subcellular localization image for THBD gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 2
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for THBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0009986 cell surface IDA 17379830
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with THBD: view

Pathways for THBD Gene

genes like me logo Genes that share pathways with THBD: view

Gene Ontology (GO) - Biological Process for THBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007565 female pregnancy IEA --
GO:0007596 blood coagulation TAS --
GO:0010165 response to X-ray IEA --
GO:0010544 negative regulation of platelet activation TAS 17379830
genes like me logo Genes that share ontologies with THBD: view

Compounds for THBD Gene

(2) Drugbank Compounds for THBD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Drotrecogin alfa
  • Anticoagulant protein C
60202-16-6 target
Ibuprofen
  • Ibuprophen
15687-27-1 target modulator

(135) Novoseek inferred chemical compound relationships for THBD Gene

Compound -log(P) Hits PubMed IDs
fibrinogen 79.5 124
hirudin 71.6 33
hirugen 64.3 6
heparin 64.2 71
ch 55 61.3 2
genes like me logo Genes that share compounds with THBD: view

Transcripts for THBD Gene

mRNA/cDNA for THBD Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(122) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for THBD Gene

Thrombomodulin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for THBD Gene

No ASD Table

Relevant External Links for THBD Gene

GeneLoc Exon Structure for
THBD
ECgene alternative splicing isoforms for
THBD

Expression for THBD Gene

mRNA expression in normal human tissues for THBD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for THBD Gene

SOURCE GeneReport for Unigene cluster for THBD Gene Hs.2030

mRNA Expression by UniProt/SwissProt for THBD Gene

P07204-TRBM_HUMAN
Tissue specificity: Endothelial cells are unique in synthesizing thrombomodulin
genes like me logo Genes that share expressions with THBD: view

Orthologs for THBD Gene

This gene was present in the common ancestor of chordates.

Orthologs for THBD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THBD 36
  • 99.25 (n)
  • 98.43 (a)
THBD 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THBD 36
  • 77.93 (n)
  • 69.54 (a)
THBD 37
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia THBD 36
  • 80.45 (n)
  • 74.17 (a)
THBD 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thbd 36
  • 73.53 (n)
  • 68.59 (a)
Thbd 16
Thbd 37
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia THBD 37
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THBD 37
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thbd 36
  • 71.95 (n)
  • 65.77 (a)
chicken
(Gallus gallus)
Aves THBD 36
  • 58.88 (n)
  • 46.5 (a)
THBD 37
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thbd 36
  • 49.37 (n)
  • 40.88 (a)
zebrafish
(Danio rerio)
Actinopterygii THBD 37
  • 27 (a)
OneToOne
Species with no ortholog for THBD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THBD Gene

ENSEMBL:
Gene Tree for THBD (if available)
TreeFam:
Gene Tree for THBD (if available)

Paralogs for THBD Gene

Paralogs for THBD Gene

genes like me logo Genes that share paralogs with THBD: view

Variants for THBD Gene

Sequence variations from dbSNP and Humsavar for THBD Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs1962 -- 23,045,859(+) TGCCA(C/T)CACCA utr-variant-3-prime
rs1042579 - 23,048,087(-) CCTTG(C/T)CCGCC reference, missense
rs1042580 -- 23,046,984(-) AAGGT(A/G)TTAAA utr-variant-3-prime
rs1800576 other, Hemolytic uremic syndrome atypical 6 (AHUS6) 23,049,378(-) GCCCC(A/G)CGACC missense, reference
rs1800577 - 23,049,269(-) CGACG(C/G)CGGCG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for THBD Gene

Variant ID Type Subtype PubMed ID
nsv912816 CNV Gain 21882294
nsv482065 CNV Gain 20164927
dgv1317e1 CNV Complex 17122850

Relevant External Links for THBD Gene

HapMap Linkage Disequilibrium report
THBD
Human Gene Mutation Database (HGMD)
THBD

Disorders for THBD Gene

(2) OMIM Diseases for THBD Gene (188040)

UniProtKB/Swiss-Prot

TRBM_HUMAN
  • Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269 PubMed:12139752, ECO:0000269 PubMed:7811989, ECO:0000269 PubMed:9198186}. Note=The disease may be caused by mutations affecting the gene represented in this entry. The role of thrombomodulin in thrombosis is controversial. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis.
  • Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269 PubMed:19625716, ECO:0000269 PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.

(97) Novoseek inferred disease relationships for THBD Gene

Disease -log(P) Hits PubMed IDs
cell damage 78.4 104
disseminated intravascular coagulation 76.1 40
thrombosis 75.9 68
thrombophilia 74.5 25
epithelial mesothelioma 72.2 4

Genatlas disease for THBD Gene

thrombosis,recurrent

Relevant External Links for THBD

GeneTests
THBD
GeneReviews
THBD
Genetic Association Database (GAD)
THBD
Human Genome Epidemiology (HuGE) Navigator
THBD
genes like me logo Genes that share disorders with THBD: view

Publications for THBD Gene

  1. Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease. (PMID: 11245641) Wu K.K. … Juneja H. (Circulation 2001) 3 4 23 49
  2. Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. (PMID: 12139752) Faioni E.M. … Rodeghiero F. (Br. J. Haematol. 2002) 3 4 23 49
  3. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. (PMID: 19625716) Delvaeye M. … Conway E.M. (N. Engl. J. Med. 2009) 3 4 23 49
  4. A common thrombomodulin amino acid dimorphism is associated with myocardial infarction. (PMID: 9157575) Norlund L. … Oehlin A.-K. (Thromb. Haemost. 1997) 3 4 49
  5. Combined effects of thrombosis pathway gene variants predict cardiovascular events. (PMID: 17677000) Auro K. … Perola M. (PLoS Genet. 2007) 3 23 49

Products for THBD Gene

Sources for THBD Gene

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