INF2

Chr 14AD

inverted formin 2

Also known as: C14orf151, C14orf173, CMTDIE, FSGS5, pp9484

NCBI Gene: 64423 ENSG00000203485 UniProt: Q27J81 OMIM: 610982

The INF2 protein severs actin filaments and accelerates their polymerization and depolymerization, playing a critical role in cytoskeletal dynamics. Mutations cause autosomal dominant Charcot-Marie-Tooth disease (dominant intermediate type E) and focal segmental glomerulosclerosis type 5, affecting both peripheral nerves and kidney glomeruli. This gene is highly constrained against loss-of-function variants (pLI = 0.97), indicating strong selective pressure for maintaining normal protein function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, dominant intermediate EMIM #614455

Glomerulosclerosis, focal segmental, 5MIM #613237

UniProtFocal segmental glomerulosclerosis 5

Clinical highlights

Gene-disease validity (ClinGen)

Charcot-Marie-Tooth disease dominant intermediate E · ADDefinitivesufficient evidence for diagnostic panels

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)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

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Mechanism

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GeneReview available — INF2