THBS4 Gene (Thrombospondin 4)
Extracellular matrix glycoprotein involved in cell adhesion, migration, and tissue remodeling
Gene Information Card
| Symbol | THBS4 |
|---|---|
| Full Name | Thrombospondin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 7060 ncbi.nlm.nih.gov/gene/7060 |
| Ensembl ID | ENSG00000113296 |
| UniProt ID | P35443 |
| OMIM ID | 600715 |
| HGNC ID | 11787 |
| Aliases | TSP4, TSP-4 |
Description
THBS4 (thrombospondin 4) encodes a member of the thrombospondin family of extracellular matrix glycoproteins. The protein mediates cell-to-cell and cell-to-matrix interactions, plays roles in synaptic development, angiogenesis, and tissue repair, and is implicated in cancer progression, cardiovascular disease, and osteoarthritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered THBS4 expression disrupts cartilage extracellular matrix homeostasis, contributing to joint degeneration. | PMID: 21559390 |
| Coronary artery disease | THBS4 polymorphisms are associated with increased risk of myocardial infarction and coronary artery calcification. | PMID: 15116084 |
| Breast cancer | THBS4 overexpression promotes tumor cell adhesion, migration, and invasion via integrin signaling. | PMID: 24130145 |
| Colorectal cancer | Elevated THBS4 expression correlates with poor prognosis and metastatic potential. | PMID: 25652256 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 15.2 | Medium |
| Adipose tissue | 12.8 | Medium |
| Lung | 6.3 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | Moderate expression |
| HCT116 (colorectal cancer) | 22.1 | High expression |
| A549 (lung cancer) | 5.7 | Low expression |
| HEK293 (embryonic kidney) | 2.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by PolyPhen-2 |
| c.1876C>T (p.Arg626Cys) | Missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging by SIFT |
| c.2140_2142del (p.Lys714del) | In-frame deletion | <0.001% (COSMIC) | Reported in colorectal cancer; functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in THBS4.
Gain of Function (GOF)
Overexpression in several cancers suggests potential gain-of-function role in tumor progression.
Dominant Negative (DN)
Not documented for THBS4.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • protein binding (GO:0005515) |
| • extracellular matrix organization (GO:0030198) | • integrin binding (GO:0005178) |
| • extracellular space (GO:0005615) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• TGF-beta signaling pathway (KEGG: hsa04350)
Protein Summary
Thrombospondin 4 (TSP-4) is a 961-amino-acid extracellular matrix glycoprotein that assembles into pentamers. It contains an N-terminal heparin-binding domain, a von Willebrand factor type C domain, three thrombospondin type 1 repeats, and a C-terminal calcium-binding domain. TSP-4 modulates cell adhesion, migration, and proliferation through interactions with integrins, syndecans, and other matrix components. It is highly expressed in heart and skeletal muscle and is upregulated in response to tissue injury and in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THBS4 Knockout HEK293 Cell Line | EDJ-KQ14944 | Human | 7060 | Details Get a Quote |
| THBS4 Knockout HCT 116 Cell Line | EDJ-KQ46635 | Human | 7060 | Details Get a Quote |
| THBS4 Knockout HeLa Cell Line | EDJ-KQ54654 | Human | 7060 | Details Get a Quote |
| THBS4 Knockout A-549 Cell Line | EDJ-KQ63135 | Human | 7060 | Details Get a Quote |
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