FGF13: A Key Regulator of Neuronal Development and Cardiac Function
Comprehensive genomic and functional analysis of Fibroblast Growth Factor 13
Gene Information Card
| Symbol | FGF13 |
|---|---|
| Full Name | Fibroblast Growth Factor 13 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 2258 ncbi.nlm.nih.gov/gene/2258 |
| Ensembl ID | ENSG00000129682 |
| UniProt ID | Q92913 |
| OMIM ID | 300070 |
| HGNC ID | 3672 |
| Aliases | FHF2, FGF-13, FHF-2 |
Description
FGF13 (Fibroblast Growth Factor 13) is a member of the fibroblast growth factor (FGF) family, specifically classified as an FGF homologous factor (FHF). Unlike canonical FGFs, FGF13 lacks a signal peptide and is not secreted; it functions intracellularly. The gene is located on the X chromosome (Xq26.3) and encodes a protein involved in neuronal development, microtubule stabilization, and cardiac electrophysiology. Mutations in FGF13 are associated with X-linked intellectual disability, epilepsy, and cardiac arrhythmias such as Brugada syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair neuronal development and synaptic function | ClinVar, OMIM |
| Epilepsy (generalized) | Disruption of FGF13 alters neuronal excitability and microtubule dynamics | ClinVar, PubMed |
| Brugada syndrome | FGF13 variants affect cardiac sodium channel (Nav1.5) regulation, leading to arrhythmia | ClinVar, OMIM |
| Atrial fibrillation | Altered FGF13 expression contributes to electrical remodeling in atria | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.2 | Medium |
| Skeletal Muscle | 6.1 | Medium |
| Kidney | 4.3 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model, high expression |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| H9c2 (cardiomyocyte) | 9.1 | Cardiac model, relevant for arrhythmia studies |
| HeLa (cervical carcinoma) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.434G>A (p.Arg145His) | Missense | Rare | Loss of function; associated with intellectual disability |
| c.617C>T (p.Pro206Leu) | Missense | Rare | Gain of function; linked to Brugada syndrome |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of function; severe neurodevelopmental phenotype |
| c.832_833del (p.Leu278fs) | Frameshift | Rare | Loss of function; truncation, epilepsy |
Mutation functional classification
Loss of Function (LOF)
Most FGF13 mutations result in loss of function, impairing microtubule binding and neuronal migration, leading to intellectual disability and epilepsy.
Gain of Function (GOF)
Rare missense variants (e.g., p.Pro206Leu) enhance interaction with Nav1.5, increasing sodium current and predisposing to Brugada syndrome.
Dominant Negative (DN)
Not reported for FGF13; mutations are typically hemizygous in males due to X-linked inheritance.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • protein kinase C binding |
| • heparin binding | • neuronal action potential propagation |
| • regulation of sodium ion transport | • positive regulation of cell proliferation |
Pathways
• MAPK signaling pathway
• Regulation of cardiac conduction
• Microtubule cytoskeleton organization
• Neurotrophin signaling pathway
Protein Summary
FGF13 (FHF2) is a 245-amino acid intracellular protein that lacks a signal peptide and is not secreted. It binds to microtubules and modulates neuronal migration and axon guidance. In the heart, FGF13 interacts with the voltage-gated sodium channel Nav1.5 (SCN5A) to regulate cardiac conduction. The protein contains a core FGF homology domain and a unique C-terminal region that mediates protein-protein interactions. Isoforms include FGF13A, FGF13B, and FGF13C, with tissue-specific expression patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF13 Knockout HEK293 Cell Line | EDJ-KQ2293 | Human | 2258 | Details Get a Quote |
| FGF13 Knockout HeLa Cell Line | EDJ-KQ53229 | Human | 2258 | Details Get a Quote |
| FGF13 Knockout A-549 Cell Line | EDJ-KQ61709 | Human | 2258 | Details Get a Quote |
| FGF13 Knockout HCT 116 Cell Line | EDJ-KQ70194 | Human | 2258 | Details Get a Quote |
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