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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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INF2
inverted formin 2
Chromosome 14 Β· 14q32.33
NCBI Gene: 64423Ensembl: ENSG00000203485.15HGNC: HGNC:23791UniProt: Q27J81
132PubMed Papers
22Diseases
0Drugs
57Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
perinuclear region of cytoplasmprotein bindingregulation of mitochondrial fissionactin filament polymerizationfocal segmental glomerulosclerosis 5Autosomal dominant intermediate Charcot-Marie-Tooth disease type ECharcot-Marie-Tooth disease dominant intermediate Efocal segmental glomerulosclerosis
✦AI Summary

INF2 (inverted formin 2) is an actin-regulating protein that severs actin filaments and promotes their polymerization and depolymerization 1. Functionally, INF2 localizes to the endoplasmic reticulum and perinuclear cytoplasm where it catalyzes linear actin filament formation 2. INF2 plays a critical role in mitochondrial fission by promoting actin polymerization at ER-mitochondrial contact sites, functioning upstream of the fission protein Drp1 to drive initial mitochondrial constriction 2. The protein also regulates oxidative stress responses; INF2 knockdown promotes cell survival during oxidative stress by reducing mitochondrial ROS and restoring mitochondrial membrane potential through HIF1 pathway modulation 3. INF2 activity is tightly regulated through its diaphanous inhibitory domain (DID), which can be disrupted by pathogenic mutations 1. Disease-associated INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease through gain-of-function mechanisms rather than haploinsufficiency 4. Mutant INF2 exhibits excessive actin polymerization, leading to altered intracellular trafficking, abnormal mitochondrial dynamics, and transcriptional reprogramming that causes podocyte loss and axonal degeneration 1. At least 80 pathogenic DID variants have been identified 1. INF2 mutations have also been implicated in atypical hemolytic uremic syndrome pathogenesis 5. Pharmacological targeting of INF2 or actin polymerization represents a promising therapeutic strategy for INF2-linked diseases 1.

Sources cited
1
INF2 catalyzes actin filament formation; regulated by DID-DID domain interactions; mutations cause FSGS and CMT through excessive actin polymerization
PMID: 39586895
2
INF2 localizes to ER; promotes actin polymerization required for mitochondrial fission upstream of Drp1
PMID: 23349293
3
INF2 knockdown promotes cell survival during oxidative stress by reducing mitochondrial ROS via HIF1 pathway
PMID: 30579254
4
INF2 mutations cause FSGS and CMT through gain-of-function mechanisms; confer excessive actin cytoskeleton effects
PMID: 39536114
5
INF2 mutations implicated in atypical hemolytic uremic syndrome pathogenesis
PMID: 38523374
Disease Associationsβ“˜22
focal segmental glomerulosclerosis 5Open Targets
0.81Strong
Autosomal dominant intermediate Charcot-Marie-Tooth disease type EOpen Targets
0.79Strong
Charcot-Marie-Tooth disease dominant intermediate EOpen Targets
0.74Strong
focal segmental glomerulosclerosisOpen Targets
0.64Moderate
genetic disorderOpen Targets
0.50Moderate
kidney diseaseOpen Targets
0.46Moderate
ProteinuriaOpen Targets
0.44Moderate
Renal insufficiencyOpen Targets
0.44Moderate
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.37Weak
kidney failureOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
nephrotic syndromeOpen Targets
0.30Weak
hypertensionOpen Targets
0.27Weak
hypertensive disorderOpen Targets
0.27Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.18Weak
glomerulonephritisOpen Targets
0.12Weak
glomerulopathy with fibronectin deposits 2Open Targets
0.12Weak
neuropathy, hereditary motor and sensory, type 6BOpen Targets
0.12Weak
periodic fever syndromeOpen Targets
0.12Weak
premature birthOpen Targets
0.12Weak
Charcot-Marie-Tooth disease, dominant intermediate EUniProt
Focal segmental glomerulosclerosis 5UniProt
Pathogenic Variants57
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)Pathogenic
Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 91
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)Pathogenic
Focal segmental glomerulosclerosis 5|Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 214
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)Pathogenic
Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2025β†’ Residue 73
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)Pathogenic
Focal segmental glomerulosclerosis;Proteinuria;Renal insufficiency;Hypertensive disorder|Focal segmental glomerulosclerosis 5|not provided|Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2025β†’ Residue 220
NM_022489.4(INF2):c.529C>T (p.Arg177Cys)Pathogenic
Focal segmental glomerulosclerosis 5|INF2-related disorder|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2025β†’ Residue 177
NM_022489.4(INF2):c.641G>A (p.Arg214His)Pathogenic
Focal segmental glomerulosclerosis 5|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Kidney disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 214
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)Pathogenic
Focal segmental glomerulosclerosis 5|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2025β†’ Residue 218
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)Pathogenic
Focal segmental glomerulosclerosis 5|not provided|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Kidney disorder|Inborn genetic diseases|Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2025β†’ Residue 218
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate E|not provided|Charcot-Marie-Tooth disease dominant intermediate E;Focal segmental glomerulosclerosis 5|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 128
NM_022489.4(INF2):c.218G>T (p.Gly73Val)Pathogenic
Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 73
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)Pathogenic
Focal segmental glomerulosclerosis 5|Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2024β†’ Residue 184
NM_022489.4(INF2):c.217G>A (p.Gly73Ser)Pathogenic
Focal segmental glomerulosclerosis 5|not provided|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜…β˜†β˜†2024β†’ Residue 73
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)Pathogenic
Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 132
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)Pathogenic
Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜†β˜†β˜†2026β†’ Residue 114
NM_022489.4(INF2):c.604A>C (p.Asn202His)Likely pathogenic
Focal segmental glomerulosclerosis 5
β˜…β˜†β˜†β˜†2025β†’ Residue 202
NM_022489.4(INF2):c.529C>G (p.Arg177Gly)Likely pathogenic
Focal segmental glomerulosclerosis 5
β˜…β˜†β˜†β˜†2025β†’ Residue 177
NM_022489.4(INF2):c.323T>A (p.Val108Asp)Pathogenic
Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜†β˜†β˜†2025β†’ Residue 108
NM_022489.4(INF2):c.373_387dup (p.Ser129_Gln130insValArgGlnLeuSer)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 129
NM_022489.4(INF2):c.481A>C (p.Thr161Pro)Likely pathogenic
Focal segmental glomerulosclerosis 5
β˜…β˜†β˜†β˜†2025β†’ Residue 161
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)Likely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease dominant intermediate E
β˜…β˜†β˜†β˜†2025β†’ Residue 69
View on ClinVar β†—
Related Genes
MYO1EProtein interaction93%NPHS1Protein interaction93%TRPC6Protein interaction93%WT1Protein interaction93%NPHS2Protein interaction93%CD2APProtein interaction93%
Tissue Expression6 tissues
Liver
100%
Lung
75%
Bone Marrow
40%
Brain
37%
Heart
30%
Ovary
29%
Gene Interaction Network
Click a node to explore
INF2MYO1ENPHS1TRPC6WT1NPHS2CD2AP
PROTEIN STRUCTURE
Preparing viewer…
PDB9B03 Β· 2.95 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.53Moderately Constrained
pLIβ“˜
0.33Tolerant
Observed/Expected LoF0.41 [0.32–0.53]
RankingsWhere INF2 stands among ~20K protein-coding genes
  • #3,529of 20,598
    Most Researched132 Β· top quartile
  • #1,212of 5,498
    Most Pathogenic Variants57 Β· top quartile
  • #3,274of 17,882
    Most Constrained (LOEUF)0.53 Β· top quartile
Genes detectedINF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Management of pediatric hemolytic uremic syndrome.
PMID: 38523374
Turk J Pediatr Β· 2024
1.00
2
Mechano-oncogenic cytoskeletal remodeling drives leukemic transformation with mitochondrial vesicle-mediated STING activation.
PMID: 39986274
Cell Stem Cell Β· 2025
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
INF2 regulates oxidative stress-induced apoptosis in epidermal HaCaT cells by modulating the HIF1 signaling pathway.
PMID: 30579254
Biomed Pharmacother Β· 2019
0.70
5
An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2.
PMID: 23349293
Science Β· 2013
0.60