SHOC2: A Key Scaffold Protein in RAS-MAPK Signaling
Comprehensive gene information for SHOC2, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SHOC2 |
|---|---|
| Full Name | SHOC2 leucine-rich repeat scaffold protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 8036 ncbi.nlm.nih.gov/gene/8036 |
| Ensembl ID | ENSG00000108061 |
| UniProt ID | Q9UQ13 |
| OMIM ID | 602775 |
| HGNC ID | 10854 |
| Aliases | SOC-2, SUR-8, KIAA0862 |
Description
SHOC2 (SOC-2, SUR-8) encodes a leucine-rich repeat scaffold protein that positively regulates the RAS-MAPK signaling pathway. It interacts with RAS and RAF kinases, facilitating signal transduction from growth factor receptors to downstream effectors. Mutations in SHOC2 are associated with Noonan syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Noonan syndrome-like disorder with loose anagen hair | Gain-of-function mutation (c.4A>G, p.Ser2Gly) causes aberrant myristoylation and increased RAS-MAPK signaling | ClinVar, OMIM |
| RASopathies | Dysregulation of RAS-MAPK pathway due to SHOC2 mutations | OMIM |
| Lung cancer | SHOC2 overexpression and mutations contribute to oncogenic RAS signaling | COSMIC |
| Colorectal cancer | SHOC2 amplification and mutations promote tumor growth | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 10.4 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney cells |
| A549 | 16.8 | Lung carcinoma cells |
| HCT116 | 20.1 | Colorectal carcinoma cells |
| MCF7 | 9.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4A>G (p.Ser2Gly) | Missense | Rare | Gain-of-function; causes aberrant myristoylation and increased RAS-MAPK signaling |
| c.511G>A (p.Ala171Thr) | Missense | Unknown | Likely gain-of-function; associated with Noonan syndrome |
| c.139C>T (p.Arg47Cys) | Missense | Unknown | Unknown functional effect; reported in cancer |
| Amplification | Copy number gain | Frequent in lung cancer | Overexpression of SHOC2 |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
c.4A>G (p.Ser2Gly) and c.511G>A (p.Ala171Thr) are gain-of-function mutations that enhance RAS-MAPK signaling.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • signal transduction (GO:0007165) |
| • Ras protein signal transduction (GO:0007265) | • positive regulation of MAPK cascade (GO:0043410) |
| • cytoplasm (GO:0005737) |
Pathways
• RAS-MAPK signaling pathway (Reactome: R-HSA-5673001)
• Signaling by RAS mutants (Reactome: R-HSA-6802948)
• RAF activation (Reactome: R-HSA-5673000)
Protein Summary
SHOC2 is a 582-amino acid leucine-rich repeat scaffold protein that localizes to the cytoplasm. It binds RAS and RAF, promoting RAF activation and downstream MAPK signaling. The protein contains multiple LRR domains and a C-terminal region essential for interaction with RAS. Aberrant myristoylation due to the p.Ser2Gly mutation alters its membrane localization and enhances signaling.
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