FRS2: Fibroblast Growth Factor Receptor Substrate 2
A key adaptor protein in FGF and NGF receptor signaling pathways
Gene Information Card
| Symbol | FRS2 |
|---|---|
| Full Name | Fibroblast growth factor receptor substrate 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 10818 ncbi.nlm.nih.gov/gene/10818 |
| Ensembl ID | ENSG00000166265 |
| UniProt ID | Q8WU20 |
| OMIM ID | 607743 |
| HGNC ID | 16971 |
| Aliases | FRS2A, SNT1, SNT-1, FRS2alpha |
Description
FRS2 (Fibroblast growth factor receptor substrate 2) encodes an adaptor protein that links activated fibroblast growth factor receptors (FGFRs) and nerve growth factor receptors (NGFRs) to downstream signaling pathways, including the RAS/MAPK and PI3K/AKT cascades. It is involved in cell proliferation, differentiation, and survival. FRS2 is frequently amplified or overexpressed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | FRS2 amplification leads to enhanced FGFR signaling, promoting tumor growth | COSMIC, ClinVar |
| Gastric cancer | FRS2 overexpression correlates with poor prognosis and metastasis | NCBI Gene, PubMed |
| Lung cancer | FRS2 copy number gains activate MAPK pathway | COSMIC |
| Ovarian cancer | FRS2 amplification associated with FGFR dependency | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Liver | 6.1 | Low |
| Lung | 10.4 | Medium |
| Ovary | 18.7 | Medium |
| Testis | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 20.5 | High expression |
| A549 (lung cancer) | 14.3 | Medium expression |
| HeLa (cervical cancer) | 11.2 | Medium expression |
| K562 (leukemia) | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | 0.01% | Unknown functional impact |
| Amplification | Copy number gain | 5-10% in breast cancer | Increased FRS2 expression and signaling |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
Amplification and overexpression are common gain-of-function events in cancer.
Dominant Negative (DN)
Not described for FRS2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGFR signaling pathway (Reactome: R-HSA-190236)
• NGF signaling via TRKA from the plasma membrane (Reactome: R-HSA-187037)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• RAS/MAPK pathway (KEGG: hsa04010)
Protein Summary
FRS2 is a 508-amino acid adaptor protein with an N-terminal myristoylation site, a phosphotyrosine-binding (PTB) domain, and multiple tyrosine phosphorylation sites. It localizes to the plasma membrane and recruits downstream effectors such as GRB2 and SOS upon receptor activation. FRS2 is essential for FGF and NGF signaling and is implicated in developmental processes and oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRS2 Knockout HEK293 Cell Line | EDJ-KQ2171 | Human | 10818 | Details Get a Quote |
| FRS2 Knockout A-549 Cell Line | EDJ-KQ22378 | Human | 10818 | Details Get a Quote |
| FRS2 Knockout HCT 116 Cell Line | EDJ-KQ22379 | Human | 10818 | Details Get a Quote |
| FRS2 Knockout HeLa Cell Line | EDJ-KQ22380 | Human | 10818 | Details Get a Quote |
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