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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

THBD Gene

protein-coding   GIFtS: 65
GCID: GC20M023026

thrombomodulin
 Explore 219 diseases affiliated with
THBD via
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 Human Malady Compendium 
Biological research products
for THBD    

Aliases
for THBD gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Thrombomodulin1     AHUS62 5
THRM2 3 5     BDCA32
CD1411 2     THPH122
TM2 3     Fetomodulin3
CD141 Antigen2 3     Fetomodulin3

External Ids:    HGNC: 117841   Entrez Gene: 70562   Ensembl: ENSG000001787267   OMIM: 1880405   UniProtKB: P072043   

Export aliases for THBD gene to outside databases

Previous GC identifers: GC20M023014 GC20M023021 GC20M022974


Summaries
for THBD gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for THBD:
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)

UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204
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 Wiki entry for THBD (Thrombomodulin)


Genomic Views
for THBD gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the THBD gene promoter:
         Brachyury   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   LCR-F1   POU3F2   NF-kappaB   AREB6   ARP-1   NF-kappaB1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: THBD promoter sequence
   Search SABiosciences Chromatin IP Primers for THBD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat THBD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.2   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p12-cen

THBD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THBD gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M023026:  view genomic region     (about GC identifiers)

Start:
 23,026,270 bp from pter      End:
 23,030,378 bp from pter
Size:
 4,109 bases      Orientation:
 minus strand

Proteins
for THBD gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204 (See protein sequence)
Recommended Name: Thrombomodulin precursor  
Size: 575 amino acids; 60329 Da
Subcellular location: Membrane; Single-pass type I membrane protein
6/11 PDB 3D structures from and Proteopedia for THBD (see all 11):
1ADX (3D)        1DQB (3D)        1DX5 (3D)        1EGT (3D)        1FGD (3D)        1FGE (3D)    
Secondary accessions: Q8IV29 Q9UC32

Explore the universe of human proteins at neXtProt for THBD: NX_P07204

Post-translational modifications:

  • N-glycosylated1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    • domains1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07204

    • THBD Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000352.1  
    ENSEMBL proteins: 
     ENSP00000366307  
    Reactome Protein details: P07204
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for THBD (Thrombomodulin/BDCA-3)
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for THBD 
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    Novus Biologicals THBD Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for THBD

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS2822087
    GO:0009986cell surface IDA17379830


    THBD for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for THBD

    Protein Domains /
    Families
    for THBD gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    THBD for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR015149 Tme5_EGF-like
     IPR001491 Thrombomodulin
     IPR016187 C-type_lectin_fold
     IPR001881 EGF-like_Ca-bd
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry P07204

    ProtoNet protein and cluster: P07204

    3 Blocks protein families:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001491 Thrombomodulin signature
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 6 EGF-like domains


    Function
    for THBD gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204
    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

         Genatlas biochemistry entry for THBD:
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: THBD
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat THBD
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate THBD (see all 24):
    hsa-miR-124* hsa-miR-520d-5p hsa-miR-4328 hsa-miR-323b-3p hsa-miR-578 hsa-miR-520a-5p hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmid: THBD 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for THBD (see all 7)
    OriGene shRNA RFP: THBD
    OriGene siRNA: THBD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat THBD

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for THBD

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for THBD (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for THBD
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: THBD (NM_000361)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THBD 

    Cell Line
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    Search LifeMap BioReagents cell lines for THBD

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS2822087
    GO:0004888transmembrane signaling receptor activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI17379830
    GO:0030246carbohydrate binding IEA--


    THBD for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for THBD:
     Increased cell number in G1, s 

    Animal Models:
         Mouse knock-outs for THBD: Thbdtm1Rdr Thbdtm2.1Emc Thbdtm2Emc
         15/16 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Thbd) (see all 16):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  normal  renal/urinary system  reproductive system 

    THBD for phenotypes           About GeneDecksing


    Pathways & Interactions
    for THBD gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of Fibrin Clot (Clotting Cascade)
    		Formation of Fibrin Clot (Clotting Cascade)1.00
    		Blood Coagulation Signaling Pathways0.51
    2Common Pathway
    		Common Pathway1.00
    		Extrinsic Prothrombin Activation Pathway0.69
    3Blood Coagulation Cascade
    		Blood Coagulation Cascade1.00
    		Intrinsic Prothrombin Activation Pathway0.96
    4Complement and coagulation cascades
    		Complement and coagulation cascades1.00
    		Complement and Coagulation Cascades0.72
    5Selected targets of GCR-alpha
    		Selected targets of GCR-alpha1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for THBD
        Selected targets of GCR-alpha

    1 R&D Systems Pathway for THBD
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for THBD
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    2 BioSystems Pathways for THBD 
        Complement and Coagulation Cascades
    Validated transcriptional targets of AP1 family members Fra1 and Fra2

    4        Reactome Pathways for THBD
        Hemostasis
    Formation of Fibrin Clot (Clotting Cascade)
    Cell surface interactions at the vascular wall
    Common Pathway


    1         Kegg Pathway  (Kegg details for THBD):
        Complement and coagulation cascades


    THBD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for THBD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for THBD (P072041, 3 ENSP000003663074) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F2P007341, 3, ENSP000003085414EBI-941422,EBI-297094 I2D: score=4 STRING: ENSP00000308541
    PF4P027763, ENSP000002960294I2D: score=3 STRING: ENSP00000296029
    PROCP040703, ENSP000002340714I2D: score=1 STRING: ENSP00000234071
    SERPINA5P051543, ENSP000003332034I2D: score=1 STRING: ENSP00000333203
    F10ENSP000003647094STRING: ENSP00000364709
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007565female pregnancy IEA--
    GO:0007596blood coagulation TAS--
    GO:0009790embryo development IEA--
    GO:0010165response to X-ray ----
    GO:0010544negative regulation of platelet activation TAS17379830


    THBD for ontologies           About GeneDecksing



    Drugs & Compounds
    for THBD gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    THBD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for THBD

    1 DrugBank Compound for THBD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--1660324 2836377 15252033 11804648 3039877

    10/135 Novoseek chemical compound relationships for THBD gene (see all 135)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 79.5 200 1650482 (3), 1651430 (3), 7660145 (2), 15198737 (2) (see all 99)
    hirudin 71.6 40 2176873 (4), 1658403 (3), 7646471 (2), 11755958 (2) (see all 25)
    hirugen 64.3 9 1317850 (4), 19638274 (1), 9035728 (1)
    heparin 64.2 101 16376423 (8), 17597201 (4), 1658403 (3), 10545182 (2) (see all 53)
    ch 55 61.3 2 9269772 (1), 9720716 (1)
    b 723 61 16 16056246 (3), 12883236 (2), 10672054 (1), 14652817 (1) (see all 13)
    gamma-carboxyglutamic acid 60.4 10 9395524 (4), 1964460 (1), 19129181 (1)
    ximelagatran 59.3 3 14648923 (1), 16353054 (1), 14727932 (1)
    prostacyclin 59.2 50 1706920 (3), 8134903 (2), 11094038 (2), 9735245 (1) (see all 29)
    chondroitin sulfate 56.8 101 8381406 (9), 7929188 (5), 8163479 (4), 17549291 (3) (see all 26)

    Search CenterWatch for drugs/clinical trials and news about THBD / TRBM 

    Transcripts
    for THBD gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for THBD gene: 
    NM_000361.2  

    Unigene Cluster for THBD:

    Thrombomodulin
    Hs.2030  [show with all ESTs]
    Unigene Representative Sequence: NM_000361
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000377103(uc002wss.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat THBD
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate THBD (see all 24):
    hsa-miR-124* hsa-miR-520d-5p hsa-miR-4328 hsa-miR-323b-3p hsa-miR-578 hsa-miR-520a-5p hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmid: THBD 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for THBD (see all 7)
    OriGene shRNA RFP: THBD
    OriGene siRNA: THBD
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    Clone
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    GenScript: all cDNA clones in your preferred vector: THBD (NM_000361)
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    Primer
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    Additional cDNA sequence: 

    AK091934.1 AK123557.1 BC035602.1 BC053357.1 CR749513.1 M16552.1 X05495.1 

    5 DOTS entries:

    DT.416446  DT.92427537  DT.100755305  DT.100755302  DT.95196185 

    24/122 AceView cDNA sequences (see all 122):

    CA306101 BC053357 BX112338 BC035602 AI215479 NM_000361 CK905980 AA256849 
    BF477361 M16552 BQ614514 CR749513 BQ267846 AA962556 BQ268099 BQ921087 
    R22425 BQ004656 BI711717 BI711304 T80997 N20638 BI962928 BX431291 

    GeneLoc Exon Structure


    Expression
    for THBD gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    THBD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATATAGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    THBD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HypoblastExtraembryonic EndodermExtraembryonic Endoderm CellsExtraembryonic Tissues, Yolk Sac
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageCervical Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    BoneStylopod Long BoneBone
    BrainMeningesBrain
    CartilageCervical Intervertebral DiscCartilage
    CartilageLumbar Intervertebral DiscCartilage
    CartilageThoracic Intervertebral DiscCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)Extraembryonic Tissues
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Endothelial-like cells (Derivation and purif...)
    Endothelial progenitor cells (Derivation and purif...)
    Embryoid bodies (Two-step protocol fo...)

    See THBD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for THBD

    SOURCE GeneReport for Unigene cluster: Hs.2030

    UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204
    Tissue specificity: Endothelial cells are unique in synthesizing thrombomodulin

        SABiosciences Expression via Pathway-Focused PCR Arrays including THBD: 
              Endothelial Cell Biology in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat THBD
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THBD

    Orthologs
    for THBD gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for THBD gene from 2/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves THBD6
    		 Uncharacterized protein
    		 44(a)
    		 1 ↔ 1
    		 3(3266427-3268058)
    worm
    (Caenorhabditis elegans)    		 Secernentea fbn-16
    		 FiBrilliN homolog family member (fbn-1)
    		 4(a)
    		 1 → many
    		 III(7625311-7640988)


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

    Paralogs
    for THBD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for THBD gene
    CLEC14A2  CD932  CD2482  

    THBD for paralogs           About GeneDecksing



    Genomic Variants
    for THBD gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/118 NCBI SNPs in THBD are shown (see all 118)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs413483471,2
    		C,unknown22990208(-) AGGTGG/TACGGT 2 D Y mis13Minor allele frequency- T:0.02NA 50
    rs18005781,2
    		C,Fother22990181(-) GCGAGC/TCCCCG 2 P S mis12Minor allele frequency- T:0.00NA 3020
    rs18005761,2
    		C,other22991537(-) GCCCCG/ACGACC 2 /T /A mis12Minor allele frequency- A:0.01NA EU 207
    rs31761391,2
    		C,--22987356(-) GCTCCA/GTGCAC 1 -- ds50012Minor allele frequency- G:0.01NS 80
    rs31761271,2
    		F--22987386(-) CTTTA-/GTGTGT 1 -- ds50012Minor allele frequency- G:0.12NS 80
    rs31761381,2
    		C,--22987523(-) TAAAAG/ACAAGT 1 -- ds50012Minor allele frequency- A:0.01NS 88
    rs739015761,2
    		C,--22987681(+) AGACGC/TTTAGA 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs31761261,2
    		C,F,H,--22987793(-) AATCCC/TAGCTG 1 -- ut31 ese310Minor allele frequency- T:0.02NS NA 1176
    rs31761361,2
    		C,--22987943(-) ATCTCT/CGTGTG 1 -- ut31 ese34Minor allele frequency- C:0.01NS NA 94
    rs1132528221,2
    		C,--22988166(+) TTGTTG/ATTTGT 1 -- ut311Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for THBD (23026270 - 23030378 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for THBD
         1 CNV: 4097
    Human Gene Mutation Database (HGMD): THBD

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing THBD
    DNA2.0 Custom Variant and Variant Library Synthesis for THBD

    Disorders / Diseases
    for THBD gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    THBD for disorders           About GeneDecksing

    OMIM gene information: 188040   
    OMIM disorders: 612926  
    UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204
  • Defects in THBD are the cause of thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]. A
    • hemostatic disorder characterized by a tendency to thrombosis
  • Defects in THBD are a cause of susceptibility to hemolytic uremic syndrome atypical type 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. Note=Susceptibility to the development of atypical
    hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the
    complement cascade system. Other genes may play a role in modifying the phenotype

    20/219 diseases for THBD (see all 219):    About MalaCards
    legg-calve-perthes disease    hemolytic-uremic syndrome    thromboembolism    thrombophilia
    churg-strauss syndrome    disseminated intravascular coagulation    thrombophilia due to thrombomodulin defect    heparin-induced thrombocytopenia
    deep vein thrombosis    atypical hemolytic-uremic syndrome    spinal cord injury    desmoplastic small round cell tumor
    adult-onset still's disease    sertoli-leydig cell tumor    factor xi deficiency    arterial occlusive disease
    end stage renal failure    thrombotic thrombocytopenic purpura    mercury poisoning    focal segmental glomerulosclerosis

    9 diseases from the University of Copenhagen DISEASES database for THBD:
    Disseminated intravascular coagulation     Vascular disease     Benign mesothelioma     Malignant mesothelioma
    Protein C deficiency     Heart disease     hemolytic-uremic syndrome     Lupus erythematosus
    Connective tissue disease

    10/97 Novoseek disease relationships for THBD gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cell damage 78.4 130 8864450 (3), 17401180 (2), 10420077 (2), 10077454 (2) (see all 91)
    disseminated intravascular coagulation 76.1 50 18431261 (5), 15650541 (2), 1660674 (2), 8236161 (2) (see all 28)
    thrombosis 75.9 96 10685802 (4), 1651429 (3), 10460600 (3), 7737745 (2) (see all 57)
    thrombophilia 74.5 30 9198186 (3), 7822946 (2), 10102456 (1), 11020468 (1) (see all 22)
    epithelial mesothelioma 72.2 4 9253621 (1), 7684019 (1), 8884348 (1), 11381372 (1)
    mesothelioma 64.6 65 10697265 (3), 12605647 (3), 9253621 (2), 11145250 (2) (see all 33)
    apc resistance 63 8 15100907 (1), 11754415 (1), 17549295 (1), 19253106 (1) (see all 6)
    protein c deficiency 62.5 4 2167370 (1), 9712290 (1), 8163684 (1)
    malignant mesothelioma 62.4 11 8884348 (3), 9570213 (1), 10649525 (1), 11895489 (1) (see all 9)
    coagulopathy 61.5 8 8752515 (1), 10810213 (1), 17239427 (1), 12211414 (1) (see all 6)

    Genatlas disease: THBD
    thrombosis,recurrent

    GeneTests: THBD
    Atypical Hemolytic-Uremic Syndrome

    Genetic Association Database (GAD): THBD
    Human Genome Epidemiology (HuGE) Navigator: THBD (55 documents)

    Export disorders for THBD gene to outside databases

    Publications
    for THBD gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for THBD gene, integrated from 9 sources (see all 1596):
    (articles sorted by number of sources associating them with THBD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. (PubMed id 12139752)1, 2, 4, 9 Faioni E.M.... Rodeghiero F. (2002)
    2. Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease. (PubMed id 11245641)1, 2, 4, 9 Wu K.K.... Juneja H. (2001)
    3. A common thrombomodulin amino acid dimorphism is associated with myocardial infarction. (PubMed id 9157575)1, 2, 4 Norlund L.... Oehlin A.-K. (1997)
    4. Gene structure of human thrombomodulin, a cofactor for thrombin- catalyzed activation of protein C. (PubMed id 2836377)1, 2, 7 Shirai T.... Suzuki K. (1988)
    5. Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss. (PubMed id 11552992)1, 4, 9 Franchi F....Faioni E.M. (2001)
    6. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. (PubMed id 19625716)1, 2, 9 Delvaeye M....Conway E.M. (2009)
    7. Thrombomodulin gene variations and thromboembolic disease. (PubMed id 9198186)1, 2, 9 Oehlin A.-K.... Marlar R.A. (1997)
    8. Prospective study of the A455V polymorphism in the thrombomodulin gene, plasma thrombomodulin, and incidence of venous thromboembolism: the LITE Study. (PubMed id 12871544)1, 4, 9 Aleksic N....Wu K.K. (2003)
    9. Thrombomodulin promoter mutations, venous thrombosis, and varicose veins. (PubMed id 11231927)1, 4, 9 Le Flem L....Alhenc-Gelas M. (2001)
    10. Identification of the predominant glycosaminoglycan-attachment site in soluble recombinant human thrombomodulin: potential regulation of functionality by glycosyltransferase competition for serine 474. (PubMed id 8216207)1, 2, 9 Gerlitz B....Grinnell B.W. (1993)

    External Searches for THBD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing THBD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7056 HGNC: 11784 AceView: THBD Ensembl:ENSG00000178726 euGenes: HUgn7056
    ECgene: THBD Kegg: 7056 H-InvDB: THBD

    Other Databases showing THBD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing THBD gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for THBD Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Thrombomodulin
    SeattleSNPshttp://pga.gs.washington.edu/data/thbd/
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_211

    Intellectual Property
    for THBD gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for THBD gene:
    Search GeneIP for patents involving THBD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    About This Section

     
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