FER1L5 Gene
Fer-1 Like Family Member 5
Gene Information Card
| Symbol | FER1L5 |
|---|---|
| Full Name | Fer-1 Like Family Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 93492 ncbi.nlm.nih.gov/gene/93492 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q8N2W9 |
| OMIM ID | 614793 |
| HGNC ID | 26721 |
| Aliases | FLJ38973, MGC138499, MGC138500 |
Description
FER1L5 (Fer-1 Like Family Member 5) is a protein-coding gene located on chromosome 2q11.2. The encoded protein belongs to the ferlin family, characterized by multiple C2 domains and a C-terminal transmembrane domain. Ferlins are involved in calcium-mediated membrane fusion events, particularly in vesicle trafficking and exocytosis. FER1L5 is expressed in various tissues and may play a role in spermatogenesis and other cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infertility (male) | Potential role in spermatogenesis; ferlin family members are implicated in vesicle fusion during acrosome reaction | Limited; inferred from family homology (e.g., FER1L3/DYSF in dysferlinopathy) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 1.8 | Not detected |
| Lung | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
| Kidney | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop; likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; likely loss of function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • calcium-dependent phospholipid binding (GO:0005544) |
| • membrane (GO:0016020) | • intracellular protein transport (GO:0006886) |
| • vesicle fusion (GO:0006906) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
FER1L5 encodes a 1,957-amino acid protein with multiple C2 domains (typically 5-7) and a C-terminal transmembrane domain. The C2 domains mediate calcium-dependent phospholipid binding, essential for membrane fusion events. The protein is predicted to localize to intracellular vesicles and the plasma membrane, consistent with a role in exocytosis and vesicle trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FER1L5 Knockout HEK293 Cell Line | EDJ-KQ10589 | Human | 90342 | Details Get a Quote |
| FER1L5 Knockout HeLa Cell Line | EDJ-KQ57770 | Human | 90342 | Details Get a Quote |
| FER1L5 Knockout A-549 Cell Line | EDJ-KQ66264 | Human | 90342 | Details Get a Quote |
| FER1L5 Knockout HCT 116 Cell Line | EDJ-KQ74684 | Human | 90342 | Details Get a Quote |
