ENSG00000178726


Homo sapiens

Features
Gene ID: ENSG00000178726
  
Biological name :THBD
  
Synonyms : P07204 / THBD / thrombomodulin
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: p11.21
Gene start: 23045633
Gene end: 23049741
  
Corresponding Affymetrix probe sets: 203887_s_at (Human Genome U133 Plus 2.0 Array)   203888_at (Human Genome U133 Plus 2.0 Array)   237252_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366307
NCBI entrez gene - 7056     See in Manteia.
OMIM - 188040
RefSeq - NM_000361
RefSeq Peptide - NP_000352
swissprot - P07204
Ensembl - ENSG00000178726
  
Related genetic diseases (OMIM): 612926 - {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926
  614486 - Thrombophilia due to thrombomodulin defect, 614486
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 thbdENSDARG00000092470Danio rerio
 THBDENSGALG00000044442Gallus gallus
 ThbdENSMUSG00000074743Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CD93 / Q9NPY3 / CD93 moleculeENSG0000012581029
CD248 / Q9HCU0 / CD248 moleculeENSG0000017480726
Q8IWY4 / SCUBE1 / signal peptide, CUB domain and EGF like domain containing 1ENSG0000015930721
Q8IX30 / SCUBE3 / signal peptide, CUB domain and EGF like domain containing 3ENSG0000014619720
MATN2 / O00339 / matrilin 2ENSG0000013256119
Q9NQ36 / SCUBE2 / signal peptide, CUB domain and EGF like domain containing 2ENSG0000017535619
Q86T13 / CLEC14A / C-type lectin domain containing 14AENSG0000017643515
MATN4 / O95460 / matrilin 4ENSG0000012415912
MATN3 / O15232 / matrilin 3ENSG0000013203110
MATN1 / P21941 / matrilin 1, cartilage matrix proteinENSG000001625109
VWA1 / Q6PCB0 / von Willebrand factor A domain containing 1ENSG000001794037


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001304  C-type lectin-like
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR015149  Thrombomodulin-like, EGF-like
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR016316  Thrombomodulin
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0010165 response to X-ray IEA
 biological_processGO:0010544 negative regulation of platelet activation TAS
 biological_processGO:0030195 negative regulation of blood coagulation TAS
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0050900 leukocyte migration TAS
 biological_processGO:0051591 response to cAMP IEA
 biological_processGO:0051918 negative regulation of fibrinolysis TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005774 vacuolar membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016327 apicolateral plasma membrane IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Common Pathway of Fibrin Clot Formation
Cell surface interactions at the vascular wall


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002625 Deep venous thrombosis 
Show

 HP:0100724 Hypercoagulability 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / complex / reaction






 

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