THBS3 Gene (Thrombospondin 3)
A member of the thrombospondin family involved in cell adhesion, angiogenesis, and extracellular matrix interactions.
Gene Information Card
| Symbol | THBS3 |
|---|---|
| Full Name | Thrombospondin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 7059 ncbi.nlm.nih.gov/gene/7059 |
| Ensembl ID | ENSG00000169231 |
| UniProt ID | P49746 |
| OMIM ID | 188061 |
| HGNC ID | 11787 |
| Aliases | TSP3, MGC119894 |
Description
THBS3 encodes thrombospondin 3, a member of the thrombospondin family of extracellular matrix glycoproteins. Thrombospondin 3 is involved in cell-to-cell and cell-to-matrix interactions, modulating processes such as cell adhesion, migration, angiogenesis, and tissue remodeling. It is expressed in various tissues including cartilage, lung, and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | THBS3 may influence cartilage extracellular matrix integrity; altered expression linked to joint degeneration. | NCBI Gene, PubMed |
| Coronary artery disease | Polymorphisms in THBS3 have been associated with risk of coronary artery disease in some studies. | NCBI Gene, PubMed |
| Cancer (various) | Dysregulation of THBS3 expression observed in several tumor types; potential role in tumor angiogenesis and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Cartilage | 9.2 | Medium |
| Skeletal muscle | 7.1 | Low |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 8.3 | Moderate expression |
| MCF7 (breast cancer) | 5.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 4.7 | Low expression |
| K562 (leukemia) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
| c.890_891insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • protein binding (GO:0005515) |
| • extracellular matrix organization (GO:0030198) | • angiogenesis (GO:0001525) |
| • extracellular space (GO:0005615) |
Pathways
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
Thrombospondin 3 is a 956-amino-acid glycoprotein with a molecular weight of approximately 104 kDa. It contains an N-terminal laminin G-like domain, three type 1 (TSP1) repeats, three type 2 (EGF-like) repeats, and a C-terminal calcium-binding domain. The protein forms homotrimers and interacts with extracellular matrix components, modulating cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THBS3 Knockout HEK293 Cell Line | EDJ-KQ873 | Human | 7059 | Details Get a Quote |
| THBS3 Knockout HCT 116 Cell Line | EDJ-KQ18373 | Human | 7059 | Details Get a Quote |
| THBS3 Knockout A-549 Cell Line | EDJ-KQ19684 | Human | 7059 | Details Get a Quote |
| THBS3 Knockout HeLa Cell Line | EDJ-KQ19685 | Human | 7059 | Details Get a Quote |
