HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FGF13
fibroblast growth factor 13
Chromosome X Β· Xq26.3-q27.1
NCBI Gene: 2258Ensembl: ENSG00000129682.17HGNC: HGNC:3670UniProt: A8K1P5
63PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sodium channel regulator activityprotein bindingcytosolnucleusdevelopmental and epileptic encephalopathy, 90atrial fibrillationdevelopmental and epileptic encephalopathyIntellectual disability
✦AI Summary

FGF13 is a non-secreted intracellular fibroblast growth factor that functions primarily as a cytoplasmic and nuclear regulator of neuronal physiology 1. As a microtubule-binding protein, FGF13 stabilizes microtubules and regulates axonal development and neuronal polarization 1. A critical function involves regulating voltage-gated sodium channel (Nav) activity through direct protein-protein interactions with Nav channels, particularly at the axon initial segment 23. FGF13 interacts with the MAPK scaffolding protein IB2 and modulates mitochondrial anchoring through binding to mitochondrial proteins like MCH2, preventing release of damaged mitochondria 41. Beyond neurology, FGF13 regulates adipocyte mitochondrial function and glucose homeostasis, with obesity-induced FGF13 expression impairing metabolic health 5. Clinically, FGF13 mutations cause developmental and epileptic encephalopathy 90 and X-linked intellectual disability 6. Recent evidence associates FGF13 with autism spectrum disorder susceptibility through X-chromosome X, with sex-specific allele frequency differences 7. FGF13 dysregulation contributes to Parkinson's disease pathology through impaired mitochondrial control of neuroinflammation 4. In diabetic neuropathy, elevated FGF13/Nav1.7 ratios promote nociceptive signaling, making FGF13 a therapeutic target for pain management 3. These diverse functions position FGF13 as a multi-system regulator with significant disease relevance across neurological, metabolic, and pain pathways.

Sources cited
1
FGF13 is non-secreted, localized to cytoplasm and nucleus, stabilizes microtubules, interacts with IB2 protein, and binds voltage-gated sodium channels
PMID: 39332965
2
FGF13 directly binds voltage-gated sodium channels and reduces neuronal excitability through the axon initial segment
PMID: 38134874
3
FGF13/Nav1.7 protein interaction bidirectionally modulates nociception and is upregulated in diabetic neuropathy
PMID: 40662354
4
Neuronal FGF13 prevents mitochondrial release through binding to mitochondrial proteins, inhibiting neuroinflammation in Parkinson's disease
PMID: 40344619
5
Obesity-induced FGF13 expression impairs adipocyte mitochondrial function and glucose homeostasis
PMID: 40169001
6
FGF13 mutations cause developmental and epileptic encephalopathy and X-linked intellectual disability
PMID: 38612920
7
FGF13 is an X-linked autism spectrum disorder candidate gene with sex-specific allele frequency differences
PMID: 39706197
Disease Associationsβ“˜22
developmental and epileptic encephalopathy, 90Open Targets
0.72Strong
atrial fibrillationOpen Targets
0.43Moderate
developmental and epileptic encephalopathyOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.42Moderate
Neurodevelopmental disorderOpen Targets
0.40Moderate
generalized epilepsy with febrile seizures plusOpen Targets
0.37Weak
Generalized epilepsy with febrile seizures-plusOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.17Weak
intellectual developmental disorder, X-linked 110Open Targets
0.12Weak
Parkinson diseaseOpen Targets
0.08Suggestive
cardiac hypertrophyOpen Targets
0.08Suggestive
polycystic ovary syndromeOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
cervical cancerOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.03Suggestive
heart failureOpen Targets
0.03Suggestive
Developmental and epileptic encephalopathy 90UniProt
Intellectual developmental disorder, X-linked 110UniProt
Pathogenic Variants6
NM_004114.5(FGF13):c.31C>T (p.Arg11Cys)Pathogenic
Developmental and epileptic encephalopathy, 90|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 11
NM_004114.5(FGF13):c.41G>C (p.Arg14Thr)Pathogenic
Developmental and epileptic encephalopathy, 90|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 14
NM_004114.5(FGF13):c.23C>A (p.Ser8Ter)Pathogenic
Developmental and epileptic encephalopathy, 90
β˜…β˜†β˜†β˜†2022β†’ Residue 8
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser)Likely pathogenic
Developmental and epileptic encephalopathy, 90
β˜…β˜†β˜†β˜†2021β†’ Residue 5
NM_004114.5(FGF13):c.32G>C (p.Arg11Pro)Pathogenic
Developmental and epileptic encephalopathy, 90
β˜†β˜†β˜†β˜†2021β†’ Residue 11
NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)Likely pathogenic
Developmental and epileptic encephalopathy, 90
β˜†β˜†β˜†β˜†β†’ Residue 2
View on ClinVar β†—
Related Genes
SOX2Protein interaction100%NOGProtein interaction100%SCN5AProtein interaction100%CCL11Protein interaction99%IGF1Protein interaction98%EGFRProtein interaction98%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
17%
Ovary
14%
Lung
7%
Heart
7%
Liver
4%
Gene Interaction Network
Click a node to explore
FGF13SOX2NOGSCN5ACCL11IGF1EGFR
PROTEIN STRUCTURE
Preparing viewer…
PDB3HBW Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.32Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.04–0.32]
RankingsWhere FGF13 stands among ~20K protein-coding genes
  • #7,360of 20,598
    Most Researched63
  • #3,374of 5,498
    Most Pathogenic Variants6
  • #1,312of 17,882
    Most Constrained (LOEUF)0.32 Β· top 10%
Genes detectedFGF13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ceramide-induced FGF13 impairs systemic metabolic health.
PMID: 40169001
Cell Metab Β· 2025
1.00
2
X-Linked Epilepsies: A Narrative Review.
PMID: 38612920
Int J Mol Sci Β· 2024
0.90
3
Neuronal FGF13 Inhibits Mitochondria-Derived Damage Signals to Prevent Neuroinflammation and Neurodegeneration in a Mouse Model of Parkinson's Disease.
PMID: 40344619
Adv Sci (Weinh) Β· 2025
0.80
4
Fibroblast Growth Factor (FGF) 13.
PMID: 39332965
Differentiation Β· 2024
0.70
5
LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons.
PMID: 38134874
Cell Β· 2023
0.60