FCHSD2 Gene - FCH and Double SH3 Domains 2
A gene encoding a protein involved in actin cytoskeleton regulation and endocytosis, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | FCHSD2 |
|---|---|
| Full Name | FCH and Double SH3 Domains 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 9873 ncbi.nlm.nih.gov/gene/9873 |
| Ensembl ID | ENSG00000137767 |
| UniProt ID | O94868 |
| OMIM ID | 616456 |
| HGNC ID | 29107 |
| Aliases | FCHSD2, SH3MD3, FLJ20291 |
Description
FCHSD2 (FCH and Double SH3 Domains 2) is a protein-coding gene located on chromosome 11q13.4. The encoded protein contains an N-terminal F-BAR domain and two C-terminal SH3 domains, which are involved in membrane curvature sensing and protein-protein interactions. FCHSD2 plays a role in actin cytoskeleton dynamics, endocytosis, and cell migration. It is expressed in various tissues and has been implicated in cancer progression and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell migration and invasion via actin remodeling | PMID: 25605274 |
| Lung cancer | Altered expression linked to tumor growth and metastasis | PMID: 27323851 |
| Schizophrenia | Genetic variants associated with increased risk | PMID: 25056061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Colon | 10.1 | Medium |
| Kidney | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| A549 | 9.5 | Low expression |
| MCF7 | 13.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1873G>A (p.Val625Met) | Missense | 0.005% (gnomAD) | Possibly damaging (in silico) |
| c.2140_2141insA | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.2140_2141insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for FCHSD2.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • endocytosis |
| • cell migration | • protein binding |
| • SH3 domain binding | • membrane bending |
Pathways
• Regulation of actin cytoskeleton
• Endocytosis
• Signaling by Rho GTPases
Protein Summary
The FCHSD2 protein (UniProt O94868) is 728 amino acids long and contains an N-terminal F-BAR domain that binds to curved membranes and two C-terminal SH3 domains that mediate interactions with proline-rich motifs. It localizes to the plasma membrane and endocytic vesicles, regulating actin polymerization and vesicle trafficking. The protein is involved in cell motility and has been linked to cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FCHSD2 Knockout HEK293 Cell Line | EDJ-KQ6795 | Human | 9873 | Details Get a Quote |
| FCHSD2 Knockout A-549 Cell Line | EDJ-KQ31279 | Human | 9873 | Details Get a Quote |
| FCHSD2 Knockout HCT 116 Cell Line | EDJ-KQ31280 | Human | 9873 | Details Get a Quote |
| FCHSD2 Knockout HeLa Cell Line | EDJ-KQ31281 | Human | 9873 | Details Get a Quote |
