THBS2 (Thrombospondin 2)
Gene encoding an extracellular matrix glycoprotein involved in cell adhesion, angiogenesis, and tumor suppression.
Gene Information Card
| Symbol | THBS2 |
|---|---|
| Full Name | Thrombospondin 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 7058 ncbi.nlm.nih.gov/gene/7058 |
| Ensembl ID | ENSG00000186340 |
| UniProt ID | P35442 |
| OMIM ID | 188061 |
| HGNC ID | 11786 |
| Aliases | TSP2, TSP-2 |
Description
THBS2 (thrombospondin 2) encodes a member of the thrombospondin family of extracellular matrix glycoproteins. The protein mediates cell-to-cell and cell-to-matrix interactions, inhibits angiogenesis, and modulates wound healing and tumor growth. THBS2 is involved in collagen fibril assembly and matrix remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered THBS2 expression affects cartilage matrix integrity and joint remodeling. | PMID: 21572416 |
| Coronary artery disease | THBS2 polymorphisms associated with increased risk of myocardial infarction. | PMID: 15184103 |
| Various cancers (e.g., breast, lung, colorectal) | THBS2 acts as a tumor suppressor by inhibiting angiogenesis and metastasis; downregulation correlates with poor prognosis. | PMID: 12618757, PMID: 23542379 |
| Ehlers-Danlos syndrome (possible) | Defective collagen assembly due to THBS2 dysfunction may contribute to connective tissue disorders. | OMIM: 188061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 6.7 | Low |
| Skeletal muscle | 15.8 | Medium |
| Adipose tissue | 20.4 | Medium |
| Skin | 25.6 | High |
| Bone marrow | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 18.2 | High expression in endothelial cells |
| MCF7 (breast cancer) | 3.4 | Low expression |
| A549 (lung cancer) | 5.1 | Low expression |
| HeLa (cervical cancer) | 2.8 | Not detected |
| Fibroblasts (dermal) | 22.7 | High expression in fibroblasts |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1672C>T (p.Arg558Cys) | Missense | <0.01% | Unknown; associated with connective tissue phenotype in one family |
| c.2140_2141del (p.Leu714fs) | Frameshift | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or lead to mRNA decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for THBS2.
Dominant Negative (DN)
Missense mutations affecting the oligomerization domain may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Angiogenesis (KEGG: hsa04370)
• TGF-beta signaling pathway (KEGG: hsa04350)
Protein Summary
Thrombospondin 2 (TSP2) is a 1172-amino-acid extracellular matrix glycoprotein that forms homotrimers. It contains multiple domains: an N-terminal heparin-binding domain, a procollagen homology domain, three type 1 repeats (TSR1), three type 2 repeats (EGF-like), seven type 3 repeats (calcium-binding), and a C-terminal domain. TSP2 inhibits angiogenesis by blocking endothelial cell migration and proliferation, and it modulates cell adhesion through interactions with integrins and CD36. It also regulates collagen fibrillogenesis and matrix assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THBS2 Knockout HEK293 Cell Line | EDJ-KQ872 | Human | 7058 | Details Get a Quote |
| THBS2 Knockout HeLa Cell Line | EDJ-KQ54653 | Human | 7058 | Details Get a Quote |
| THBS2 Knockout A-549 Cell Line | EDJ-KQ63134 | Human | 7058 | Details Get a Quote |
| THBS2 Knockout HCT 116 Cell Line | EDJ-KQ71608 | Human | 7058 | Details Get a Quote |
