SHC3 Gene - SHC Adaptor Protein 3
A member of the Shc family of adaptor proteins involved in signal transduction pathways, particularly in the nervous system.
Gene Information Card
| Symbol | SHC3 |
|---|---|
| Full Name | SHC adaptor protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.1 |
| NCBI Gene ID | 53358 ncbi.nlm.nih.gov/gene/53358 |
| Ensembl ID | ENSG00000148082 |
| UniProt ID | Q92529 |
| OMIM ID | 605263 |
| HGNC ID | 10823 |
| Aliases | N-Shc, ShcC, RAI, NSHC |
Description
SHC3 (SHC adaptor protein 3) encodes a member of the Shc family of adaptor proteins. This protein contains a phosphotyrosine-binding (PTB) domain and a Src homology 2 (SH2) domain, enabling it to interact with activated receptor tyrosine kinases. SHC3 is primarily expressed in the nervous system and plays a role in signal transduction pathways, including the MAP kinase cascade, influencing cell growth, differentiation, and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Altered SHC3 expression may contribute to tumorigenesis by affecting differentiation and survival pathways. | PubMed: 14576839 |
| Breast cancer | SHC3 overexpression has been observed in some breast cancer cell lines, potentially influencing signaling. | PubMed: 12477932 |
| Alzheimer disease | SHC3 may be involved in amyloid-beta signaling and neuronal stress responses. | PubMed: 17959782 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.3 | Medium |
| Cerebellum | 18.7 | Medium |
| Spinal cord | 8.2 | Low |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.2 | Neuronal cell line |
| U-87 MG (glioblastoma) | 9.8 | Astrocytoma cell line |
| MCF7 (breast cancer) | 3.1 | Low expression |
| HEK 293 (embryonic kidney) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • SH3/SH2 adaptor activity (GO:0005070) | • signal transduction (GO:0007165) |
| • positive regulation of cell population proliferation (GO:0008284) | • negative regulation of apoptotic process (GO:0043066) |
| • cell differentiation (GO:0030154) |
Pathways
• MAPK signaling pathway (Reactome: R-HSA-5673001)
• ErbB signaling pathway (KEGG: hsa04012)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
SHC3 is a 469-amino acid adaptor protein with a molecular weight of approximately 52 kDa. It contains an N-terminal PTB domain and a C-terminal SH2 domain, which mediate binding to phosphorylated tyrosine residues on activated receptors. SHC3 is predominantly expressed in neurons and glial cells, where it links receptor activation to downstream signaling cascades such as the Ras-MAPK pathway. Its role in neuronal differentiation and survival is critical, and dysregulation has been implicated in neuroblastoma and other cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHC3 Knockout HEK293 Cell Line | EDJ-KQ1207 | Human | 53358 | Details Get a Quote |
| WASHC3 Knockout HEK293 Cell Line | EDJ-KQ10873 | Human | 51019 | Details Get a Quote |
| SHC3 Knockout HeLa Cell Line | EDJ-KQ20528 | Human | 53358 | Details Get a Quote |
| WASHC3 Knockout A-549 Cell Line | EDJ-KQ38550 | Human | 51019 | Details Get a Quote |
| WASHC3 Knockout HCT 116 Cell Line | EDJ-KQ38551 | Human | 51019 | Details Get a Quote |
| WASHC3 Knockout HeLa Cell Line | EDJ-KQ38552 | Human | 51019 | Details Get a Quote |
| SHC3 Knockout A-549 Cell Line | EDJ-KQ64864 | Human | 53358 | Details Get a Quote |
| SHC3 Knockout HCT 116 Cell Line | EDJ-KQ73308 | Human | 53358 | Details Get a Quote |
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