FGF12

Chr 3AD

fibroblast growth factor 12

Also known as: DEE47, EIEE47, FGF12B, FHF1

NCBI Gene: 2257 ENSG00000114279 UniProt: P61328 OMIM: 601513

The protein is a member of the fibroblast growth factor family that lacks a signal sequence and instead localizes to the nucleus rather than being secreted. Mutations cause developmental and epileptic encephalopathy 47 through an autosomal dominant inheritance pattern. The specific mechanism by which nuclear FGF12 dysfunction leads to seizures and developmental delay remains unclear.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 47MIM #617166

Clinical highlights

Gene-disease validity (ClinGen)

Brugada syndrome · ADDisputedevidence questions this relationship2 gene-disease associations curated in total

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

GOF

Mechanism· G2P

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GeneReview available — FGF12