EFS Gene (Embryonal Fyn-Associated Substrate)
A key adaptor protein in cell signaling, migration, and cancer progression.
Gene Information Card
| Symbol | EFS |
|---|---|
| Full Name | Embryonal Fyn-associated substrate |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 10278 ncbi.nlm.nih.gov/gene/10278 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | O43281 |
| OMIM ID | 609896 |
| HGNC ID | 3268 |
| Aliases | CAS3, EFS1, HEFS, SIN |
Description
EFS (Embryonal Fyn-associated substrate) encodes a member of the Cas (Crk-associated substrate) family of adaptor proteins. It contains an N-terminal SH3 domain and multiple proline-rich motifs, mediating interactions with signaling molecules such as Fyn, FAK, and Crk. EFS is involved in cytoskeletal reorganization, cell migration, and adhesion. It is expressed in embryonic tissues and certain adult tissues, with dysregulation linked to cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell migration and invasion via FAK/Crk signaling | PMID: 15592455 |
| Colorectal cancer | Upregulation associated with poor prognosis and metastasis | PMID: 19029980 |
| Ovarian cancer | Increased expression correlates with aggressive tumor behavior | PMID: 19638425 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Breast | 1.8 | Low |
| Colon | 3.1 | Medium |
| Kidney | 1.5 | Low |
| Liver | 0.9 | Not detected |
| Lung | 2.0 | Low |
| Ovary | 2.7 | Medium |
| Prostate | 1.2 | Low |
| Testis | 4.5 | Medium |
| Thyroid | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.8 | Moderate expression |
| HCT116 (colorectal cancer) | 4.2 | Moderate expression |
| A549 (lung cancer) | 2.5 | Low expression |
| HeLa (cervical cancer) | 3.0 | Low expression |
| K562 (leukemia) | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.205G>A (p.Glu69Lys) | Missense | <0.1% | Unknown functional impact |
| c.340_341insA (p.Leu114fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu114fs) likely lead to truncated protein and loss of adaptor function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
Not described for EFS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FAK signaling (Reactome: R-HSA-3928662)
• Crk-mediated signaling (Reactome: R-HSA-3928665)
• Integrin signaling (Reactome: R-HSA-354192)
Protein Summary
EFS is a 428-amino acid adaptor protein (UniProt O43281) with an N-terminal SH3 domain and multiple proline-rich regions. It localizes to focal adhesions and interacts with Src family kinases (e.g., Fyn), FAK, and Crk. Through these interactions, EFS regulates actin dynamics, cell spreading, and migration. Overexpression in several cancers suggests a role in tumor invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFS Knockout HEK293 Cell Line | EDJ-KQ6990 | Human | 10278 | Details Get a Quote |
| EFS Knockout HeLa Cell Line | EDJ-KQ55366 | Human | 10278 | Details Get a Quote |
| EFS Knockout A-549 Cell Line | EDJ-KQ63847 | Human | 10278 | Details Get a Quote |
| EFS Knockout HCT 116 Cell Line | EDJ-KQ72306 | Human | 10278 | Details Get a Quote |
