SYNPO2L
Synaptopodin 2-like protein gene
Gene Information Card
| Symbol | SYNPO2L |
|---|---|
| Full Name | synaptopodin 2-like |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 284254 ncbi.nlm.nih.gov/gene/284254 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | Q9H987 |
| OMIM ID | 615874 |
| HGNC ID | 28479 |
| Aliases | FLJ22662, MGC131914, synaptopodin-2-like |
Description
SYNPO2L encodes a protein that belongs to the synaptopodin family, involved in actin cytoskeleton organization and cell motility. It is expressed in various tissues and has been implicated in cardiac and skeletal muscle function, as well as in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Altered actin dynamics leading to impaired contractility | ClinVar, OMIM |
| Breast cancer | Overexpression associated with poor prognosis | COSMIC, literature |
| Colorectal cancer | Mutations affecting cell migration | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Brain | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.2 | Low expression |
| MCF7 | 7.8 | Medium expression |
| HCT116 | 6.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; potential loss of function |
| c.567delA | Frameshift | 0.005% | p.Lys189fs; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, reducing actin-binding capacity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • cytoskeleton organization |
| • cell migration | • muscle contraction |
Pathways
• Actin cytoskeleton regulation
• Focal adhesion
Protein Summary
The SYNPO2L protein is a 1,024-amino acid actin-binding protein that localizes to the Z-disc in cardiac and skeletal muscle, where it modulates sarcomere assembly and contractile function. It also plays a role in cell migration and invasion in cancer cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNPO2L Knockout HEK293 Cell Line | EDJ-KQ15584 | Human | 79933 | Details Get a Quote |
| SYNPO2L Knockout HeLa Cell Line | EDJ-KQ57259 | Human | 79933 | 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 |
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