SHC2 Gene - SHC Adaptor Protein 2
Comprehensive genomic and functional overview of SHC2, a signaling adaptor protein involved in growth factor receptor pathways.
Gene Information Card
| Symbol | SHC2 |
|---|---|
| Full Name | SHC adaptor protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 25759 ncbi.nlm.nih.gov/gene/25759 |
| Ensembl ID | ENSG00000129946 |
| UniProt ID | P98077 |
| OMIM ID | 605211 |
| HGNC ID | 10819 |
| Aliases | SCK, SHCB, SHC-B |
Description
SHC2 (SHC adaptor protein 2) encodes a member of the SHC family of adaptor proteins. These proteins contain a phosphotyrosine-binding (PTB) domain and a Src homology 2 (SH2) domain, mediating signal transduction from activated receptor tyrosine kinases to downstream pathways such as the Ras/MAPK cascade. SHC2 is involved in cell growth, differentiation, and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered SHC2 expression may disrupt growth factor signaling, contributing to oncogenesis. | COSMIC database reports mutations in multiple cancer types; limited direct evidence from ClinVar. |
| Neurodegenerative disorders | Potential involvement in neuronal signaling pathways, but direct disease association not well established. | No curated disease entries in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 2.5 | Low |
| Testis | 4.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Moderate expression |
| HeLa | 4.8 | Moderate expression |
| K562 | 3.2 | Low expression |
| MCF7 | 5.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Unknown functional impact; reported in COSMIC |
| c.457G>A (p.Gly153Ser) | Missense | Rare | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • SH3/SH2 adaptor activity (GO:0005070) | • signal transduction (GO:0007165) |
| • cell proliferation (GO:0008283) | • neurotrophin TRK receptor signaling pathway (GO:0048011) |
Pathways
• ErbB signaling pathway (KEGG: hsa04012)
• Ras signaling pathway (KEGG: hsa04014)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
SHC2 is a 474-amino acid adaptor protein (UniProt P98077) with a PTB domain and an SH2 domain. It localizes to the cytoplasm and plasma membrane, interacting with activated receptor tyrosine kinases (e.g., TrkA, EGFR) to recruit downstream effectors like Grb2 and SOS, thereby activating the Ras/MAPK pathway. SHC2 is expressed predominantly in brain and testis, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHC2 Knockout HEK293 Cell Line | EDJ-KQ1206 | Human | 25759 | Details Get a Quote |
| SHC2 Knockout HeLa Cell Line | EDJ-KQ55811 | Human | 25759 | Details Get a Quote |
| SHC2 Knockout A-549 Cell Line | EDJ-KQ64305 | Human | 25759 | Details Get a Quote |
| SHC2 Knockout HCT 116 Cell Line | EDJ-KQ72757 | Human | 25759 | Details Get a Quote |
