INF2

Chr 14AD

inverted formin 2

ENSG00000203485UniProt: Q27J81OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.31LOEUF
pLI 0.973
Z-score 5.64
OE 0.18 (0.11–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.31Z-score
OE missense 0.76 (0.71–0.82)
581 obs / 760.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.18 (0.11–0.31)
0≤0.351.4
Missense OE0.76 (0.71–0.82)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 10 / 55.3Missense obs/exp: 581 / 760.0Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INF2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A very rare case report with INF2 gene mutation related sporadic FSGS and response to treatment.
Kaynar K et al.·Nefrologia (Engl Ed)
2026Case report
Regulation of the formin INF2 by actin monomers and calcium/calmodulin.
Lee M et al.·J Cell Biol
2026
High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid-Resistant Nephrotic Syndrome: Predominance of INF2 and TRPC6 and Identification of a Novel Gene.
Azouaou L.·Nephrology (Carlton)
2025
Autosomal dominant focal segmental glomerulosclerosis by INF2 p.Arg218Trp and p.Ser186Pro mutations: three case reports and literature review.
Guo S et al.·BMC Nephrol
2025Open AccessReview
Structural and functional dissection of the WH2/DAD motif of INF2, a formin linked to human inherited degenerative disorders.
Labat-de-Hoz L et al.·FEBS J
2026Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients