FCHO2: F-BAR Domain Only Protein 2
Key regulator of clathrin-mediated endocytosis and membrane curvature
Gene Information Card
| Symbol | FCHO2 |
|---|---|
| Full Name | FCH domain only 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 54729 ncbi.nlm.nih.gov/gene/54729 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q0JRZ9 |
| OMIM ID | 613484 |
| HGNC ID | 29060 |
| Aliases | FCHO2, KIAA1450, FCH domain only 2 |
Description
FCHO2 (FCH domain only 2) encodes a protein that belongs to the F-BAR (Fes/CIP4 homology and Bin/Amphiphysin/Rvs) domain family. The protein is involved in clathrin-mediated endocytosis by sensing and inducing membrane curvature at sites of vesicle formation. FCHO2 interacts with other endocytic proteins such as EPS15 and intersectin to initiate clathrin-coated pit assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia | Potential role in endocytic trafficking defects; mutations may disrupt membrane curvature sensing | ClinVar |
| Cancer (various) | Altered expression may affect receptor internalization and signaling | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.3 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.4 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 9.8 | Moderate expression |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567delA (p.Glu189fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein likely impair endocytosis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin coat assembly | • membrane curvature |
| • endocytosis | • protein binding |
| • plasma membrane |
Pathways
• Clathrin-mediated endocytosis
• Endocytosis
Protein Summary
FCHO2 is a 889-amino acid protein containing an N-terminal F-BAR domain that binds to phosphatidylinositol lipids and induces membrane tubulation. It localizes to clathrin-coated pits and interacts with EPS15 and intersectin to facilitate early stages of endocytosis. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FCHO2 Knockout HEK293 Cell Line | EDJ-KQ6865 | Human | 115548 | Details Get a Quote |
| FCHO2 Knockout A-549 Cell Line | EDJ-KQ32796 | Human | 115548 | Details Get a Quote |
| FCHO2 Knockout HCT 116 Cell Line | EDJ-KQ32798 | Human | 115548 | Details Get a Quote |
| FCHO2 Knockout HeLa Cell Line | EDJ-KQ32799 | Human | 115548 | Details Get a Quote |
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