FGF12

Chr 3q28-q29

fibroblast growth factor 12

Aliases:: FHF1
MANE:: ENST00000445105.7

OMIM: 601513 ↗NCBI: 2257 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FGF12 · P61328

v62025-08-01

Predicted Aligned Error matrix for FGF12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.3/ 100

Confident

243 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)9%
Low(50–70)18%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.65
neurodegenerative disease
0.47
Epileptic encephalopathy
0.47
undetermined early-onset epileptic encephalopathy
0.37
Seizure
0.34
cervical carcinoma
0.33
insomnia
0.29
brain injury
0.28
pyogenic granuloma
0.27
atherosclerosis
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Fibroblast growth factor 12

Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation