RFLNA (Refilin A)
Actin filament-associated protein involved in cell morphology and motility
Gene Information Card
| Symbol | RFLNA |
|---|---|
| Full Name | Refilin A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NKL6 |
| OMIM ID | 617871 |
| HGNC ID | 34478 |
| Aliases | MGC16169, dJ1181N3.1 |
Description
RFLNA (Refilin A) encodes a protein that binds to filamin A and regulates actin cytoskeleton dynamics, influencing cell shape, adhesion, and migration. It is involved in the formation of cellular protrusions and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | Highest expression in lung-derived lines |
| HeLa (cervical carcinoma) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • cytoskeleton (GO:0005856) |
| • lamellipodium (GO:0030027) | • actin cytoskeleton organization (GO:0030036) |
| • cell projection (GO:0042995) |
Pathways
• Regulation of actin cytoskeleton (Reactome: R-HSA-5663222)
Protein Summary
Refilin A is a 668-amino acid protein that interacts with filamin A to promote actin filament cross-linking and stabilization. It localizes to lamellipodia and filopodia, facilitating cell migration and morphological changes. Expression is enriched in lung and spleen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFLNA Knockout HEK293 Cell Line | EDJ-KQ10412 | Human | 144347 | Details Get a Quote |
| RFLNA Knockout HeLa Cell Line | EDJ-KQ58506 | Human | 144347 | Details Get a Quote |
| RFLNA Knockout A-549 Cell Line | EDJ-KQ66994 | Human | 144347 | Details Get a Quote |
| RFLNA Knockout HCT 116 Cell Line | EDJ-KQ75394 | Human | 144347 | Details Get a Quote |
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