ABLIM2

Chr 4

actin binding LIM protein family member 2

NCBI Gene: 84448 ENSG00000163995 UniProt: Q6H8Q1

The protein acts as a scaffold protein that binds actin filaments and stimulates transcriptional activity through the SRF pathway, playing a role in cellular structure and gene regulation. Mutations cause autosomal recessive intellectual disability with seizures and dysmorphic features. This gene is highly constrained against loss-of-function variants, suggesting that complete protein loss is likely pathogenic.

ResearchSummary from RefSeq, UniProt

Predicted to enable actin filament binding activity. Predicted to be involved in lamellipodium assembly. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in actin cytoskeleton. [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

—

P/LP missense

0.47

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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