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.

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]

OMIM ResearchGenerating clinical summary…

ADLOEUF 0.312 OMIM phenotypes

Clinical Summary— INF2

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Gene-Disease Validity (ClinGen)

Charcot-Marie-Tooth disease dominant intermediate E · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.

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