TSKU Gene: Tsukushi, Small Leucine Rich Proteoglycan
Comprehensive genomic and proteomic analysis of TSKU, a small leucine-rich proteoglycan involved in developmental signaling and potential cancer biology.
Gene Information Card
| Symbol | TSKU |
|---|---|
| Full Name | Tsukushi, small leucine rich proteoglycan |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.5 |
| NCBI Gene ID | 25987 ncbi.nlm.nih.gov/gene/25987 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q8WUA8 |
| OMIM ID | 608253 |
| HGNC ID | 25739 |
| Aliases | TSK, TSKU1, bA364P11.1 |
Description
TSKU encodes tsukushi, a small leucine-rich proteoglycan (SLRP) that functions as an extracellular matrix component and signaling modulator. It is known to interact with and regulate multiple developmental pathways including BMP, Wnt, and FGF signaling. TSKU is expressed in various tissues and has been implicated in cell differentiation, migration, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TSKU expression may modulate BMP/Wnt signaling, affecting tumor growth and metastasis. | COSMIC; literature (PMID: 25691885) |
| Osteoarthritis | TSKU may influence cartilage homeostasis through BMP pathway modulation. | Literature (PMID: 23911600) |
| Developmental disorders | TSKU mutations or dysregulation could affect embryonic patterning via signaling interference. | OMIM #608253 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 4.5 | Medium |
| Liver | 2.1 | Low |
| Kidney | 3.9 | Medium |
| Testis | 6.7 | Medium |
| Ovary | 5.0 | Medium |
| Prostate | 4.8 | Medium |
| Breast | 3.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.3 | Cervical cancer cell line |
| A549 | 4.1 | Lung cancer cell line |
| MCF7 | 3.8 | Breast cancer cell line |
| HepG2 | 1.9 | Liver cancer cell line |
| K562 | 5.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | 0.02% (gnomAD) | Premature truncation, likely loss of function |
| c.101G>A (p.Arg34His) | Missense | 0.01% (gnomAD) | Unknown significance |
| c.763_764insA (p.Thr255Asnfs*12) | Frameshift | Reported in COSMIC | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg163*, p.Thr255Asnfs*12) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TSKU.
Dominant Negative (DN)
No evidence for dominant-negative effects in TSKU.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (negative regulation)
• Wnt signaling pathway
• FGF signaling pathway
Protein Summary
Tsukushi (TSKU) is a 412-amino-acid small leucine-rich proteoglycan (SLRP) localized to the extracellular matrix. It contains leucine-rich repeats (LRRs) and a C-terminal cysteine-rich domain. TSKU binds to BMP, Wnt, and FGF ligands, modulating their signaling activities. It plays roles in cell differentiation, migration, and tissue patterning. Post-translational modifications include glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSKU Knockout HEK293 Cell Line | EDJ-KQ8341 | Human | 25987 | Details Get a Quote |
| TSKU Knockout A-549 Cell Line | EDJ-KQ34350 | Human | 25987 | Details Get a Quote |
| TSKU Knockout HCT 116 Cell Line | EDJ-KQ34351 | Human | 25987 | Details Get a Quote |
| TSKU Knockout HeLa Cell Line | EDJ-KQ34352 | Human | 25987 | Details Get a Quote |
