FER1L5
protein-codingfer-1 like family member 5, the group of Ferlin family
Gene summary
Predicted to enable calcium ion binding activity. Predicted to be involved in several processes, including binding activity of sperm to zona pellucida; membrane fusion involved in acrosome reaction; and plasma membrane repair. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~62.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FER1L5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001293083.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 199 | 20 | 219 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 202 | 20 | 1 | 223 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001280012.1 | 53 | MANE Select | |
| Ensembl | ENSP00000485238.1 | 53 | MANE Select | |
| Ensembl | ENSP00000493220.1 | 52 | Standard | |
| RefSeq | XP_011510412.1 | 53 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- myoblast fusion
Cellular Component
- plasma membrane
- integral component of membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation. {ECO:0000250}.;