SYNPO2: Synaptopodin-2 Gene
Actin-binding protein involved in sarcomere organization and cancer progression
Gene Information Card
| Symbol | SYNPO2 |
|---|---|
| Full Name | synaptopodin-2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 171024 ncbi.nlm.nih.gov/gene/171024 |
| Ensembl ID | ENSG00000172403 |
| UniProt ID | Q9UMS6 |
| OMIM ID | 608499 |
| HGNC ID | 18332 |
| Aliases | MYOPODIN, GENEX-3, synaptopodin 2 |
Description
SYNPO2 encodes synaptopodin-2, an actin-binding protein that localizes to Z-discs in striated muscle and stress fibers in non-muscle cells. It plays a role in sarcomere organization, cell migration, and cytoskeletal dynamics. The gene is also known as myopodin and is implicated in cancer progression, particularly in bladder and prostate cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder cancer | Loss of SYNPO2 expression correlates with tumor invasion and poor prognosis; acts as a tumor suppressor | PMID: 15159317 |
| Prostate cancer | Reduced expression associated with aggressive disease and metastasis; re-expression inhibits cell migration | PMID: 16951135 |
| Cardiomyopathy | Mutations in SYNPO2 may disrupt Z-disc integrity, contributing to dilated cardiomyopathy | PMID: 20022194 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 15.3 | High |
| Kidney | 4.2 | Medium |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.1 | Cervical cancer cell line |
| MCF7 | 2.4 | Breast cancer cell line |
| LNCaP | 1.2 | Prostate cancer cell line |
| T24 | 0.8 | Bladder cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of actin-binding domain |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown; predicted benign by SIFT |
| c.890_891insA | Frameshift | <0.1% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking actin-binding ability, reducing tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • cytoskeleton (GO:0005856) |
| • Z disc (GO:0030018) | • lamellipodium (GO:0030027) |
| • sarcomere organization (GO:0045214) | • actin filament binding (GO:0051015) |
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663213)
• Striated muscle contraction (Reactome: R-HSA-390522)
Protein Summary
Synaptopodin-2 is a 120 kDa actin-binding protein that contains multiple proline-rich regions and a C-terminal coiled-coil domain. It interacts with alpha-actinin and filamin, linking the actin cytoskeleton to Z-discs in muscle cells. In non-muscle cells, it localizes to stress fibers and lamellipodia, regulating cell motility. Loss of SYNPO2 expression is observed in invasive bladder and prostate cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNPO2 Knockout HEK293 Cell Line | EDJ-KQ15583 | Human | 171024 | Details Get a Quote |
| SYNPO2L Knockout HEK293 Cell Line | EDJ-KQ15584 | Human | 79933 | Details Get a Quote |
| SYNPO2 Knockout A-549 Cell Line | EDJ-KQ46452 | Human | 171024 | Details Get a Quote |
| SYNPO2L Knockout HeLa Cell Line | EDJ-KQ57259 | Human | 79933 | Details Get a Quote |
| SYNPO2 Knockout HeLa Cell Line | EDJ-KQ58951 | Human | 171024 | Details Get a Quote |
| SYNPO2L Knockout A-549 Cell Line | EDJ-KQ65771 | Human | 79933 | Details Get a Quote |
| SYNPO2L Knockout HCT 116 Cell Line | EDJ-KQ74193 | Human | 79933 | Details Get a Quote |
| SYNPO2 Knockout HCT 116 Cell Line | EDJ-KQ75834 | Human | 171024 | Details Get a Quote |
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