SYNPO (Synaptopodin) Gene
Key regulator of actin dynamics in podocytes and neurons
Gene Information Card
| Symbol | SYNPO |
|---|---|
| Full Name | Synaptopodin |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 11346 ncbi.nlm.nih.gov/gene/11346 |
| Ensembl ID | ENSG00000171992 |
| UniProt ID | Q8N3V7 |
| OMIM ID | 608137 |
| HGNC ID | 11472 |
| Aliases | KIAA1029, SYNPO1, synaptopodin-1 |
Description
The SYNPO gene encodes synaptopodin, an actin-associated protein essential for the formation and maintenance of podocyte foot processes in the kidney and dendritic spines in neurons. It regulates actin cytoskeleton dynamics by interacting with RhoA signaling and α-actinin-4, and its dysfunction is linked to proteinuric kidney diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal segmental glomerulosclerosis (FSGS) | Loss of synaptopodin disrupts podocyte actin cytoskeleton, leading to foot process effacement and proteinuria | PMID: 21132029; ClinVar |
| Minimal change disease (MCD) | Reduced synaptopodin expression correlates with podocyte injury and nephrotic syndrome | PMID: 16968738 |
| HIV-associated nephropathy (HIVAN) | Synaptopodin downregulation contributes to podocyte dedifferentiation and collapsing glomerulopathy | PMID: 16968738 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 22.3 | High |
| Brain (cerebellum) | 15.1 | Medium |
| Brain (cortex) | 12.8 | Medium |
| Testis | 4.2 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Podocytes (immortalized) | 25.0 | High expression; used as marker |
| HEK293 | 0.8 | Very low |
| SH-SY5Y (neuronal) | 10.5 | Moderate; dendritic spine function |
| A549 | 0.3 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature truncation; loss of function |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Impaired actin binding; associated with FSGS |
| c.1234_1235insA | Frameshift | Rare | Loss of function; podocyte injury |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent synaptopodin, disrupting actin cytoskeleton in podocytes and neurons.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants like p.Gly248Arg may exert dominant-negative effects by interfering with actin binding.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin cytoskeleton organization |
| • podocyte foot process maintenance | • dendritic spine morphogenesis |
| • Rho protein signal transduction |
Pathways
• Regulation of actin cytoskeleton (RhoA signaling)
• Podocyte differentiation and maintenance
Protein Summary
Synaptopodin is a 73 kDa proline-rich protein that localizes to actin-rich structures in podocytes and dendritic spines. It stabilizes actin filaments by inhibiting the actin-severing activity of cofilin and by recruiting α-actinin-4. In the kidney, it is essential for the integrity of the glomerular filtration barrier; in neurons, it modulates synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNPO Knockout HEK293 Cell Line | EDJ-KQ7377 | Human | 11346 | Details Get a Quote |
| 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 |
| SYNPO Knockout A-549 Cell Line | EDJ-KQ32503 | Human | 11346 | Details Get a Quote |
| SYNPO Knockout HCT 116 Cell Line | EDJ-KQ32504 | Human | 11346 | Details Get a Quote |
| SYNPO Knockout HeLa Cell Line | EDJ-KQ32505 | Human | 11346 | 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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