TAGLN3

Chr 3

transgelin 3

Also known as: NP22, NP24, NP25

NCBI Gene: 29114 ENSG00000144834 UniProt: Q9UI15

The protein binds actin filaments and is involved in actin filament organization, with predicted roles in transcriptional regulation and synaptic function. Mutations in this gene have not been definitively associated with human disease to date. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.72), suggesting potential intolerance to complete protein loss.

ResearchSummary from RefSeq

Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be active in actin cytoskeleton and synapse. [provided by Alliance of Genome Resources, Apr 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

0.71

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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