FSTL4

Chr 5

follistatin like 4

NCBI Gene: 23105 ENSG00000053108 UniProt: Q6MZW2

The protein binds brain-derived neurotrophic factor and calcium ions, regulating BDNF receptor signaling and dendritic spine development in the extracellular space. FSTL4 is highly constrained against loss-of-function variants (LOEUF 0.44), suggesting that mutations would likely cause severe developmental consequences. However, no specific genetic disorders have been definitively associated with FSTL4 mutations in humans to date.

ResearchSummary from RefSeq

Predicted to enable brain-derived neurotrophic factor binding activity and calcium ion binding activity. Predicted to be involved in cell differentiation and regulation of BMP signaling pathway. Predicted to act upstream of or within negative regulation of brain-derived neurotrophic factor receptor signaling pathway; negative regulation of collateral sprouting; and negative regulation of dendritic spine development. Predicted to be located in secretory granule. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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