EPS8 Gene Summary [Human]
This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EPS8 |
| Official Name | epidermal growth factor receptor pathway substrate 8 [Source:HGNC Symbol;Acc:HGNC:3420] |
| Ensembl ID | ENSG00000151491 |
| Bio databases IDs | |
| Aliases | epidermal growth factor receptor pathway substrate 8 |
| Synonyms | AW261790, DFNB102, EGFR pathway substrate 8, signaling adaptor, epidermal growth factor receptor pathway substrate 8 |
| 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 EPS8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ligand-binding domain
- SAM (Sterile alpha motif )
- actin binding
- SAM domain (Sterile alpha motif)
- enzyme binding
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- effector domain
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- motor dysfunction or movement disorder
- HER2 negative hormone receptor negative breast cancer
- autosomal recessive deafness type 102
- colorectal cancer
- hearing loss
- tumorigenesis
- allergic contact dermatitis
- autosomal recessive deafness
- multiple system atrophy
role in cell
- proliferation
- migration
- formation
- morphology
- growth
- number
- size
- invasiveness
- remodeling
- motility
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
- stereocilia tip
- apical ectoplasmic specialization
- basal ectoplasmic specialization
- glutaminergic synapse
- cell cortex
- Nucleus
- Plasma Membrane
- lysosome
- actin filaments
- cell-cell contacts
- cytosol
- stereocilia
- vesicle membrane
- membrane ruffles
- dendritic spines
- dendritic spine head
- synaptosomes
- synapse
- actin stress fibers
- brush border
- filopodia
- cell membrane leading edge
- postsynaptic density
- plasma
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPS8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- Rac protein signal transduction
- regulation of Rho protein signal transduction
- adult locomotory behavior
- Rho protein signal transduction
- behavioral response to ethanol
- positive regulation of ruffle assembly
- actin crosslink formation
- regulation of actin filament length
- barbed-end actin filament capping
- actin polymerization-dependent cell motility
- exit from mitosis
- actin filament bundle assembly
Cellular Component
Where in the cell the gene product is active
- growth cone
- postsynaptic density
- extracellular vesicular exosome
- brush border
- cell cortex
- ruffle membrane
- vesicle
- stereocilium
- N-methyl-D-aspartate selective glutamate receptor complex
- stereocilium bundle tip
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- small GTPase binding