THBD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | THBD |
| Official Name | thrombomodulin [Source:HGNC Symbol;Acc:HGNC:11784] |
| Ensembl ID | ENSG00000178726 |
| Bio databases IDs | |
| Aliases | thrombomodulin, fetomodulin |
| Synonyms | AHUS6, BDCA3, CD141, THPH12, THRM, thrombomodulin, TM |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human THBD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- lectin-like domain
- Thrombomodulin like fifth domain, EGF-like
- Complement Clr-like EGF-like
- signaling receptor activity
- C-type lectin (CTL)/C-type lectin-like (CTLD) domain
- calcium ion binding
- signal peptide
- protein binding
- EGF-like domain
- EGF_CA
- Lectin C-type domain
- serine threonine rich domain
- transmembrane receptor
- Coagulation Factor Xa inhibitory site
Pathways
Biological processes and signaling networks where the THBD gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- atherosclerosis
- hepatocellular carcinoma
- kidney disease
- tumorigenesis
- sepsis
- lung squamous cell carcinoma
- squamous cell lung cancer
- Budd-Chiari syndrome
- psoriasis
role in cell
- accumulation in
- production in
- expression in
- binding in
- proliferation
- phosphorylation in
- growth
- migration
- cell death
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- apicolateral membrane
- cell surface
- Extracellular Space
- cellular membrane
- cell cortex
- vacuole
- cell-cell contacts
- plasma membrane extracellular face
- plasma
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human THBD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- zymogen activation
- response to X-ray
- negative regulation of fibrinolysis
- blood coagulation, common pathway
- negative regulation of blood coagulation
- proteolysis
- response to cAMP
- female pregnancy
- negative regulation of platelet activation
- response to lipopolysaccharide
- blood coagulation
Cellular Component
Where in the cell the gene product is active
- apicolateral plasma membrane
- extracellular space
- external side of plasma membrane
- vacuolar membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- transmembrane signaling receptor activity
- calcium ion binding
- signaling receptor activity