• Gene id: 7056

Gene Summary

• Gene Symbol: THBD   Gene   UCSC   Ensembl
• Aliases: AHUS6, BDCA3, CD141, THPH12, THRM, TM
• Gene name: thrombomodulin
• Alternate names: thrombomodulin, CD141 antigen, fetomodulin,
• Gene location: 20p11.21 (35420057: 35251204)     Exons: 16     NC_000011.10
• Gene summary(Entrez): 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 gener
• OMIM: 188040

Protein Summary

• Protein general information: P07204  
  • Name: Thrombomodulin (TM) (Fetomodulin) (CD antigen CD141)
  • Length: 575  
  • Mass: 60329
  • Tissue specificity: Endothelial cells are unique in synthesizing thrombomodulin.
• Sequence:

  MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLL
  NGDGGVGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSE
  PIWEEQQCEVKADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCT
  APPGAVQGHWAREAPGAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNP
  DQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCE
  YQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGF
  CSGVCHNLPGTFECICGPDSALARHIGTDCDSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIAS
  LCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL

• Structural information:
  • Protein Domains: (31..16-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040-)
    (241..28-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (284..32-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR001304  IPR016186  IPR016316  IPR026823  IPR016187   IPR001881  IPR013032  IPR000742  IPR000152  IPR018097  IPR009030  IPR015149  
  • Prosite: PS00010 PS50041 PS01186 PS50026 PS01187
  • PDB: 1ADX 1DQB 1DX5 1EGT 1FGD 1FGE 1HLT 1TMR 1ZAQ 2ADX 3GIS 5TO3
  • PDBsum: 1ADX 1DQB 1DX5 1EGT 1FGD 1FGE 1HLT 1TMR 1ZAQ 2ADX 3GIS 5TO3
  • STRING: ENSP00000366307
• Other Databases: GeneCards:  THBD  Malacards:  THBD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030195	negative regulation of blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010165	response to X-ray	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0007565	female pregnancy	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0016327	apicolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005774	vacuolar membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051918	negative regulation of fibrinolysis	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0010544	negative regulation of platelet activation	TAS	biological process
GO:0030195	negative regulation of blood coagulation	TAS	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05418	Fluid shear stress and atherosclerosis
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Inherited thrombophilia	KEGG:H00223
Atypical hemolytic uremic syndrome	KEGG:H01434
Inherited thrombophilia	KEGG:H00223
Atypical hemolytic uremic syndrome	KEGG:H01434
Idiopathic pulmonary fibrosis	PMID:20418386
Atypical hemolytic-uremic syndrome	PMID:20595690
Atypical hemolytic-uremic syndrome	PMID:19625716
Alzheimer's disease	PMID:15760641
Hypertension	PMID:17401180
Hypertension	PMID:16095049
Intravascular coagulation	PMID:23952647
Intravascular coagulation	PMID:21569368
granulomatosis with polyangiitis	PMID:20156770
Familial combined hyperlipidemia	PMID:15262191
Hypothyroidism	PMID:22985614
Impotence	PMID:11596671
Asthma	PMID:20709825
Coronary artery disease	PMID:17012137
Carotid artery thrombosis	PMID:21885846
Cerebral infarction	PMID:15574195
lung non-small cell carcinoma	PMID:20607726
Liver disease	PMID:19487933
Pulmonary hypertension	PMID:16784493
juvenile rheumatoid arthritis	PMID:15209962
Ankylosing spondylitis	PMID:21556780
Rheumatoid arthritis	PMID:15700117
Crohn's disease	PMID:17557119
Systemic lupus erythematosus	PMID:18484695
type 2 diabetes mellitus	PMID:17195062
type 2 diabetes mellitus	PMID:11738074
type 1 diabetes mellitus	PMID:11738074
obesity	PMID:16651309
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)