RFLNB Gene - Refilin B
Comprehensive genomic and proteomic analysis of RFLNB (Refilin B), a gene encoding a cytoplasmic protein involved in cytoskeletal organization and cell morphology.
Gene Information Card
| Symbol | RFLNB |
|---|---|
| Full Name | Refilin B |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 359845 ncbi.nlm.nih.gov/gene/359845 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q6P5S7 |
| OMIM ID | 614152 |
| HGNC ID | 26624 |
| Aliases | MGC16169, bA203J24.7, C17orf36, FLJ32786 |
Description
RFLNB (Refilin B) is a protein-coding gene located on chromosome 17p13.3. The encoded protein is a cytoplasmic protein that interacts with filamin A and is involved in regulating actin cytoskeleton dynamics, cell shape, and migration. Refilin B is part of the refilin family and plays a role in cellular processes such as adhesion and motility. Expression is enriched in certain tissues, and alterations may contribute to developmental or neoplastic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| A549 | 7.4 | Low expression |
| K562 | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • actin binding (GO:0003779) |
| • actin cytoskeleton organization (GO:0030036) | • actin filament binding (GO:0051015) |
Pathways
• Regulation of actin cytoskeleton (Reactome: R-HSA-5663205)
Protein Summary
Refilin B is a 668-amino acid cytoplasmic protein that binds to filamin A and modulates actin filament crosslinking. It influences cell shape, migration, and adhesion. The protein contains a filamin-binding domain and is expressed in tissues with dynamic cytoskeletal remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFLNB Knockout HEK293 Cell Line | EDJ-KQ15043 | Human | 359845 | Details Get a Quote |
| RFLNB Knockout A-549 Cell Line | EDJ-KQ45595 | Human | 359845 | Details Get a Quote |
| RFLNB Knockout HCT 116 Cell Line | EDJ-KQ45596 | Human | 359845 | Details Get a Quote |
| RFLNB Knockout HeLa Cell Line | EDJ-KQ45597 | Human | 359845 | Details Get a Quote |
