INF2 Gene - Inverted Formin 2
Key regulator of actin dynamics and mitochondrial fission, associated with kidney and neurological disorders
Gene Information Card
| Symbol | INF2 |
|---|---|
| Full Name | Inverted Formin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 64423 ncbi.nlm.nih.gov/gene/64423 |
| Ensembl ID | ENSG00000164022 |
| UniProt ID | Q27J81 |
| OMIM ID | 610982 |
| HGNC ID | 23791 |
| Aliases | C14orf151, C14orf173, FLJ22553, FLJ23311, KIAA1726 |
Description
The INF2 gene encodes inverted formin 2, a member of the formin family of actin-nucleating proteins. INF2 is unique among formins as it can both accelerate actin polymerization and promote actin depolymerization. It is involved in cytoskeletal organization, cell motility, and mitochondrial fission. Mutations in INF2 are associated with focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease type E (CMTDIE).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal segmental glomerulosclerosis (FSGS) | Mutations in INF2 disrupt actin dynamics in podocytes, leading to foot process effacement and glomerular damage. | PMID: 20023659, 20340139 |
| Charcot-Marie-Tooth disease type E (CMTDIE) | Dominant mutations in INF2 cause peripheral neuropathy by impairing Schwann cell actin regulation and mitochondrial dynamics. | PMID: 21602788, 23393156 |
| Glomerulosclerosis, focal segmental, with or without Charcot-Marie-Tooth disease | Overlapping phenotypes due to INF2 mutations affecting both kidney and peripheral nerve tissues. | PMID: 23393156 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Peripheral nerve | 6.7 | Medium |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Medium expression |
| HepG2 | 5.1 | Low expression |
| A549 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.311C>T (p.Arg104Cys) | Missense | Common in FSGS | Dominant negative effect on actin polymerization |
| c.512G>A (p.Arg171His) | Missense | Rare in CMTDIE | Alters mitochondrial fission |
| c.740G>A (p.Arg247His) | Missense | Reported in FSGS | Disrupts INF2 dimerization |
| c.1034C>T (p.Thr345Met) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not typically observed; most pathogenic mutations are dominant negative.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Common mechanism; mutant INF2 interferes with wild-type formin activity, disrupting actin dynamics and mitochondrial fission.
View complete mutation data：
Gene Ontology (GO)
| • actin filament polymerization | • actin cytoskeleton organization |
| • mitochondrial fission | • Rho GTPase binding |
| • formin activity |
Pathways
• Actin cytoskeleton regulation
• Mitochondrial dynamics
Protein Summary
Inverted formin 2 (INF2) is a 1249-amino acid protein that contains formin homology domains FH1 and FH2, a diaphanous autoregulatory domain (DAD), and a unique C-terminal WH2-like domain. It nucleates and elongates actin filaments and also severs actin filaments in a calcium-dependent manner. INF2 localizes to the endoplasmic reticulum and mitochondria, where it regulates mitochondrial fission by recruiting dynamin-related protein 1 (DRP1).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINF2 Knockout HEK293 Cell Line | EDJ-KQ2488 | Human | 5345 | Details Get a Quote |
| INF2 Knockout HEK293 Cell Line | EDJ-KQ3291 | Human | 64423 | Details Get a Quote |
| SERPINF2 Knockout HCT 116 Cell Line | EDJ-KQ23075 | Human | 5345 | Details Get a Quote |
| SERPINF2 Knockout HeLa Cell Line | EDJ-KQ23076 | Human | 5345 | Details Get a Quote |
| SERPINF2 Knockout A-549 Cell Line | EDJ-KQ21712 | Human | 5345 | Details Get a Quote |
| INF2 Knockout HCT 116 Cell Line | EDJ-KQ23478 | Human | 64423 | Details Get a Quote |
| INF2 Knockout A-549 Cell Line | EDJ-KQ24868 | Human | 64423 | Details Get a Quote |
| INF2 Knockout HeLa Cell Line | EDJ-KQ24870 | Human | 64423 | Details Get a Quote |
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