SHOC2 Gene Summary [Human]
This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | SHOC2 |
| Official Name | SHOC2 leucine rich repeat scaffold protein [Source:HGNC Symbol;Acc:HGNC:15454] |
| Ensembl ID | ENSG00000108061 |
| Bio databases IDs | |
| Aliases | SHOC2 leucine rich repeat scaffold protein |
| Synonyms | mKIAA0862, NSLH1, SHOC2 leucine-rich repeat scaffold protein, Shoc2, leucine rich repeat scaffold protein, SIAA0862, SOC2, SUR8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SHOC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein phosphatase 1 regulatory subunit 42
- protein phosphatase 1 binding
- protein phosphatase binding
- protein phosphatase regulator
- Leucine rich repeat
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hereditary disorder
- Noonan syndrome-like disorder with loose anagen hair
- Noonan syndrome
- noonan syndrome-like disorder with loose anagen hair 1
- Noonan spectrum disorder
- Costello syndrome
- anxiety disorder
- polycystic kidney disease 4 with or without liver disease
- cardiofaciocutaneous syndrome
role in cell
- proliferation
- migration
- expression in
- phagocytosis
- apoptosis
- differentiation
- phosphorylation in
- growth
- development
- cell cycle progression
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SHOC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- negative regulation of neuron differentiation
- positive regulation of neuron differentiation
- fibroblast growth factor receptor signaling pathway
- positive regulation of Ras protein signal transduction
- negative regulation of neural precursor cell proliferation
- positive regulation of neuron projection development
- Ras protein signal transduction
- cellular response to growth hormone stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- protein phosphatase type 1 complex
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein phosphatase binding
- protein phosphatase 1 binding
- protein phosphatase regulator activity