FER1L6 Gene - Fer-1 Like Family Member 6
Comprehensive genomic and functional annotation of FER1L6
Gene Information Card
| Symbol | FER1L6 |
|---|---|
| Full Name | Fer-1 Like Family Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 100507463 ncbi.nlm.nih.gov/gene/100507463 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | A6NGL6 |
| OMIM ID | 619256 |
| HGNC ID | 37289 |
| Aliases | FLJ45803, MGC16384 |
Description
FER1L6 (Fer-1 Like Family Member 6) is a protein-coding gene located on chromosome 8q24.13. It encodes a member of the ferlin family of proteins, which are involved in vesicle fusion and membrane trafficking. The gene is expressed in multiple tissues and has been implicated in various cellular processes including calcium-dependent membrane fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations in COSMIC | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • vesicle-mediated transport (GO:0016192) | • vesicle fusion (GO:0006906) |
Pathways
• No curated pathways
Protein Summary
FER1L6 encodes a protein of 1,977 amino acids (UniProt A6NGL6) belonging to the ferlin family. It contains multiple C2 domains and a FerA domain, suggesting a role in calcium-dependent membrane fusion. The protein is predicted to localize to the plasma membrane and participate in vesicle trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FER1L6 Knockout HEK293 Cell Line | EDJ-KQ13471 | Human | 654463 | Details Get a Quote |
| FER1L6 Knockout HeLa Cell Line | EDJ-KQ60670 | Human | 654463 | Details Get a Quote |
| FER1L6 Knockout A-549 Cell Line | EDJ-KQ69144 | Human | 654463 | Details Get a Quote |
| FER1L6 Knockout HCT 116 Cell Line | EDJ-KQ77496 | Human | 654463 | Details Get a Quote |
