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THBD Gene

protein-coding   GIFtS: 66
GCID: GC20M023026

Thrombomodulin

  See THBD-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
thrombomodulin1 2     THPH122 5
THRM2 3 5     BDCA32
TM2 3     CD1412
CD141 Antigen2 3     fetomodulin2
AHUS62 5     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 mercury poisoning, and dengue shock syndrome. GO annotations related to this gene include carbohydrate binding and calcium ion binding. An important paralog of this gene is CLEC14A.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   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 plasmidTHBD promoter sequence
   Search Chromatin IP Primers for THBD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 20p11.21

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204 (See protein sequence)
Recommended Name: Thrombomodulin precursor  
Size: 575 amino acids; 60329 Da
Selected 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

Explore proteomics data for THBD at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains1
  • Glycosylation2 at Asn47, Asn115, Asn116, Asn382, Asn409, Ser490, Ser492
  • Modification sites at PhosphoSitePlus

  • See THBD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000352.1  
    ENSEMBL proteins: 
     ENSP00000366307  
    Reactome Protein details: P07204

    THBD Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for THBD 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    Selected InterPro protein domains (see all 12):
     IPR015149 Tme5_EGF-like
     IPR001491 Thrombomodulin
     IPR016187 C-type_lectin_fold
     IPR001881 EGF-like_Ca-bd_dom
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry P07204

    ProtoNet protein and cluster: P07204

    3 Blocks protein domains:
    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


    Find genes that share domains with THBD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    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 IPI14691232
    GO:0030246carbohydrate binding IEA--
         
    Find genes that share ontologies with THBD           About GenesLikeMe


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

         Selected MGI mutant phenotypes (inferred from 10 alleles(MGI details for Thbd) (see all 16):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  normal  renal/urinary system  reproductive system 

    Find genes that share phenotypes with THBD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for THBD: Thbdtm1Rdr Thbdtm2.1Emc Thbdtm2Emc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for THBD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for THBD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for THBD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for THBD

    miRNA
    Products:
        
    miRTarBase miRNAs that target THBD:
    hsa-mir-215-5p (MIRT024294), hsa-mir-192-5p (MIRT026159), hsa-mir-335-5p (MIRT017044)

    Block miRNA regulation of human, mouse, rat THBD using miScript Target Protectors
    Selected qRT-PCR 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 plasmidTHBD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat THBD

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for THBD
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    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THBD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRBM_HUMAN, P07204: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3
    cytoskeleton2
    cytosol2
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS2822087
    GO:0009986cell surface IDA17379830
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with THBD           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for THBD About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Common Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Prothrombin Activation Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    4Hemostasis
    Hemostasis0.43
    5Validated transcriptional targets of AP1 family members Fra1 and Fra2
    Validated transcriptional targets of AP1 family members Fra1 and Fra2


    Find genes that share SuperPaths with THBD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    3 Downloadable PowerPoint Slides of GeneGlobe 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


    2 Reactome Pathways for THBD
        Cell surface interactions at the vascular wall
    Common Pathway


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including THBD: 
              Endothelial Cell Biology in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for THBD

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

    Selected 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
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    Gene Ontology (GO): Selected biological process terms (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 IEA--
    GO:0010544negative regulation of platelet activation TAS17379830

    Find genes that share ontologies with THBD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for THBD (TRBM)

    2 DrugBank Compounds for THBD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--1660324 2836377 15252033 11804648 3039877
    IbuprofenIbuprophen (see all 3)15687-27-1targetmodulator22668799

    Selected Novoseek inferred 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)



    Find genes that share compounds with THBD           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat THBD

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 122):

    NM_000361 BQ614514 BQ921087 BX112338 CA306101 BC035602 M16552 BC053357 
    BI711304 AA962556 BI711717 CR749513 T80997 CK905980 BQ268099 AI215479 
    AA256849 N20638 BQ267846 R22425 BQ004656 BF477361 BI962928 BP355507 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    THBD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATATAGAT
    THBD Expression
    About this image


    THBD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Hypoblast (Extraembryonic Tissues)
             Extraembryonic Endoderm Cells Extraembryonic Endoderm
     
     Yolk Sac (Extraembryonic Tissues)
             Extraembryonic Endoderm Cells Extraembryonic Endoderm
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Stylopod Long Bone
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
             Trachea
    THBD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THBD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2030

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including THBD: 
              Endothelial Cell Biology in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    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 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for THBD gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thbd1 , 5 thrombomodulin1, 5 73.53(n)1
    68.59(a)1
      2 (73.45 cM)5
    218241  NM_009378.31  NP_033404.11 
     1484044665 
    chicken
    (Gallus gallus)
    Aves THBD1 thrombomodulin 58.88(n)
    46.5(a)
      101752029  XM_004940137.1  XP_004940194.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia thbd1 thrombomodulin 49.37(n)
    40.88(a)
      100485229  XM_002936923.2  XP_002936969.1 
    zebrafish
    (Danio rerio)
    Actinopterygii THBD6
    thrombomodulin
    27(a)
    1 ↔ 1
    20(51802111-51803520) ENSDARG00000092470


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

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

    Find genes that share paralogs with THBD           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for THBD (see all 177)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18005791,2,,4
    C,FHemolytic uremic syndrome atypical 6 (AHUS6)4 --22978279(-) GACGCC/TCGGCT 2 P L mis13Minor allele frequency- T:0.00NA 2646
    rs18005781,2,,4
    C,FHemolytic uremic syndrome atypical 6 (AHUS6)4 other122978298(-) GCGAGC/TCCCCG 2 P S mis12Minor allele frequency- T:0.00NA 3020
    rs413483471,2,,4
    CThrombophilia due to thrombomodulin defect (THPH12)4 unknown122978325(-) AGGTGG/TACGGT 2 D Y mis13Minor allele frequency- T:0.02NA 50
    rs18005761,2,,4
    CHemolytic uremic syndrome atypical 6 (AHUS6)4 other122979654(-) GCCCCG/ACGACC 2 /T /A mis11Minor allele frequency- A:0.01EU 205
    VAR_0632234
    Hemolytic uremic syndrome atypical 6 (AHUS6)4--see VAR_0632232 D G mis40--------
    VAR_0636734
    Hemolytic uremic syndrome atypical 6 (AHUS6)4--see VAR_0636732 D E mis40--------
    VAR_0636744
    Hemolytic uremic syndrome atypical 6 (AHUS6)4--see VAR_0636742 A G mis40--------
    VAR_0632244
    Hemolytic uremic syndrome atypical 6 (AHUS6)4--see VAR_0632242 V L mis40--------
    rs31761391,2
    C,F--22975473(-) GCTCCA/GTGCAC 1 -- ds50012Minor allele frequency- G:0.01NS 80
    rs1393075351,2
    C--22975486(+) CCCAG-/CACACAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for THBD (23026270 - 23030378 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for THBD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912816CNV Gain21882294
    nsv482065CNV Gain20164927
    dgv1317e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): THBD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing THBD
    DNA2.0 Custom Variant and Variant Library Synthesis for THBD

    (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.)
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    OMIM gene information: 188040   
    OMIM disorders: 614486  612926  
    UniProtKB/Swiss-Prot: TRBM_HUMAN, P07204
  • Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]: A hemostatic disorder characterized by
    a tendency to thrombosis. 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Other genes may play a role in modifying the phenotype

  • Selected diseases for THBD (see all 41):    
    About MalaCards
    mercury poisoning    dengue shock syndrome    thrombophilia due to thrombomodulin defect    thrombomodulin anomalies, familial
    thbd-related atypical hemolytic-uremic syndrome    hemolytic uremic syndrome, atypical 6    eisenmenger syndrome    malignant biphasic mesothelioma
    disseminated intravascular coagulation    sarcomatoid mesothelioma    mediterranean spotted fever    carotid artery occlusion
    pericardial mesothelioma    meningococcemia    churg-strauss syndrome    adenomatoid tumor
    legg-calve-perthes disease    spotted fever    atypical hemolytic-uremic syndrome    erythromelalgia

    10 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
    Kidney disease     Connective tissue disease

    Find genes that share disorders with THBD           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: THBD
    Genetic Association Database (GAD): THBD
    Human Genome Epidemiology (HuGE) Navigator: THBD (55 documents)

    Export disorders for THBD gene to outside databases

    (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)
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    PubMed articles for THBD gene, integrated from 10 sources (see all 1620):
    (articles sorted by number of sources associating them with THBD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. (PubMed id 19625716)1, 2, 4, 9 Delvaeye M.... Conway E.M. (N. Engl. J. Med. 2009)
    2. Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. (PubMed id 12139752)1, 2, 4, 9 Faioni E.M.... Rodeghiero F. (Br. J. Haematol. 2002)
    3. Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease. (PubMed id 11245641)1, 2, 4, 9 Wu K.K.... Juneja H. (Circulation 2001)
    4. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PubMed id 20513133)1, 2, 4 Maga T.K.... Smith R.J.H. (Hum. Mutat. 2010)
    5. A common thrombomodulin amino acid dimorphism is associated with myocardial infarction. (PubMed id 9157575)1, 2, 4 Norlund L.... Oehlin A.-K. (Thromb. Haemost. 1997)
    6. Gene structure of human thrombomodulin, a cofactor for thrombin- catalyzed activation of protein C. (PubMed id 2836377)1, 2, 7 Shirai T.... Suzuki K. (J. Biochem. 1988)
    7. 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. (Br. J. Haematol. 2001)
    8. Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage. (PubMed id 17099210)1, 4, 9 Kaare M....AittomAoki K. (Hum. Reprod. 2007)
    9. Thrombomodulin gene variations and thromboembolic disease. (PubMed id 9198186)1, 2, 9 Oehlin A.-K.... Marlar R.A. (Thromb. Haemost. 1997)
    10. Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population. (PubMed id 16507317)1, 4, 9 Sugiyama S....Miyata T. (Thromb. Res. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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