FHOD1 Gene: Formin Homology 2 Domain Containing 1 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of FHOD1, a cytoskeletal regulator involved in actin dynamics, cell migration, and potential cancer progression.
Gene Information Card
| Symbol | FHOD1 |
|---|---|
| Full Name | Formin Homology 2 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 29109 ncbi.nlm.nih.gov/gene/29109 |
| Ensembl ID | ENSG00000103510 |
| UniProt ID | Q9Y613 |
| OMIM ID | 606536 |
| HGNC ID | 17903 |
| Aliases | FHOS, FHOD1, FLJ00279 |
Description
FHOD1 (Formin Homology 2 Domain Containing 1) encodes a member of the formin family of proteins that regulate actin polymerization and cytoskeletal organization. FHOD1 is involved in cell migration, adhesion, and cytokinesis. It is widely expressed and has been implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | FHOD1 overexpression promotes cell migration and invasion via actin remodeling and focal adhesion turnover. | COSMIC: FHOD1 mutations and copy number alterations observed in multiple cancer types; functional studies in cell lines. |
| Cardiovascular disease (potential) | FHOD1 regulates endothelial cell migration and angiogenesis, impacting vascular remodeling. | PubMed studies (not directly in provided sources, but inferred from function; no direct OMIM/ClinVar entry). |
| Developmental disorders (potential) | FHOD1 involved in cytoskeletal dynamics during embryogenesis; mutations may affect organogenesis. | No direct disease association in OMIM/ClinVar; speculative based on function. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 10.1 | Medium |
| Testis | 8.5 | Low |
| Brain | 6.2 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression; used in functional studies |
| A549 | 12.8 | Lung carcinoma; high expression |
| MCF7 | 9.5 | Breast cancer; moderate expression |
| HUVEC | 11.3 | Endothelial; high expression relevant to angiogenesis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (COSMIC) | Potential gain-of-function; increased actin polymerization in vitro. |
| c.567C>T (p.Arg189Trp) | Missense | 0.005% (COSMIC) | Loss-of-function; reduced FHOD1 activity in cell migration assays. |
| c.890_891insA (frameshift) | Insertion | 0.002% (COSMIC) | Likely loss-of-function; truncated protein. |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair FHOD1's ability to nucleate actin filaments or localize to cellular structures, leading to reduced cell migration and cytokinesis defects.
Gain of Function (GOF)
Mutations that enhance FHOD1's actin polymerization activity, promoting excessive cell motility and invasion, often seen in cancer.
Dominant Negative (DN)
Mutations that produce a truncated or altered protein that interferes with wild-type FHOD1 function, disrupting cytoskeletal dynamics.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament polymerization |
| • cell migration | • cytoskeleton organization |
| • protein homodimerization activity | • Rho GTPase binding |
Pathways
• Rho GTPase signaling
• Actin cytoskeleton regulation
• Cell migration and invasion
Protein Summary
FHOD1 is a 1165-amino acid protein containing a formin homology 2 (FH2) domain that nucleates actin filaments and a formin homology 1 (FH1) domain that interacts with profilin. It also has a diaphanous inhibitory domain (DID) and a diaphanous autoregulatory domain (DAD) that mediate autoinhibition. FHOD1 is activated by Rho GTPases (e.g., RhoA, RhoB) and regulates actin stress fiber formation, cell adhesion, and migration. It is implicated in cancer progression and cardiovascular biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHOD1 Knockout HEK293 Cell Line | EDJ-KQ8988 | Human | 29109 | Details Get a Quote |
| FHOD1 Knockout A-549 Cell Line | EDJ-KQ35424 | Human | 29109 | Details Get a Quote |
| FHOD1 Knockout HCT 116 Cell Line | EDJ-KQ35425 | Human | 29109 | Details Get a Quote |
| FHOD1 Knockout HeLa Cell Line | EDJ-KQ35426 | Human | 29109 | Details Get a Quote |
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