FHDC1 (FH2 Domain Containing 1)
A gene encoding a formin-related protein involved in actin cytoskeleton organization and cell division.
Gene Information Card
| Symbol | FHDC1 |
|---|---|
| Full Name | FH2 Domain Containing 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9Y4D7 |
| OMIM ID | 191170 |
| HGNC ID | 3706 |
| Aliases | FHDC1, FH2 domain containing 1, INF2, C14orf151 |
Description
FHDC1 encodes a member of the formin family of proteins, characterized by a formin homology 2 (FH2) domain. This protein is involved in actin nucleation and polymerization, playing a critical role in cytoskeletal dynamics, cell motility, and cytokinesis. It is also implicated in the regulation of mitochondrial fission and endoplasmic reticulum morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal segmental glomerulosclerosis (FSGS) | Mutations in FHDC1 (INF2) cause autosomal dominant FSGS, likely through dysregulation of actin dynamics in podocytes. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease (CMT) | Specific FHDC1 (INF2) mutations are associated with intermediate CMT, affecting Schwann cell actin organization. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.2 | Low |
| Testis | 6.9 | Low |
| Lung | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| SH-SY5Y | 7.8 | Low expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.311C>T (p.Arg104Cys) | Missense | Rare | Associated with FSGS; alters actin binding. |
| c.511G>A (p.Glu171Lys) | Missense | Rare | Associated with CMT; disrupts FH2 domain function. |
| c.740T>C (p.Leu247Pro) | Missense | Rare | Reported in FSGS; reduces actin polymerization. |
Mutation functional classification
Loss of Function (LOF)
Some FSGS-associated mutations (e.g., p.Arg104Cys) impair actin polymerization, leading to loss of function in podocyte cytoskeleton.
Gain of Function (GOF)
Not well established; some CMT mutations may cause aberrant actin dynamics.
Dominant Negative (DN)
Dominant-negative effects are proposed for FSGS mutations, as mutant FHDC1 interferes with wild-type formin activity.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • actin nucleation |
| • cell division | • mitochondrial fission |
| • regulation of cell shape |
Pathways
• Formin-mediated actin nucleation
• Cytoskeletal signaling
• Mitochondrial dynamics
Protein Summary
FHDC1 (also known as INF2) is a 1249-amino-acid formin protein containing an FH2 domain essential for actin filament nucleation and elongation. It localizes to the endoplasmic reticulum and mitochondria, where it regulates fission. Mutations in FHDC1 cause kidney and neurological disorders by disrupting actin dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHDC1 Knockout HEK293 Cell Line | EDJ-KQ10372 | Human | 85462 | Details Get a Quote |
| FHDC1 Knockout HCT 116 Cell Line | EDJ-KQ37712 | Human | 85462 | Details Get a Quote |
| FHDC1 Knockout HeLa Cell Line | EDJ-KQ37713 | Human | 85462 | Details Get a Quote |
| FHDC1 Knockout A-549 Cell Line | EDJ-KQ66221 | Human | 85462 | Details Get a Quote |
