EPS8L2 Gene Summary [Human]
This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | EPS8L2 |
| Official Name | EPS8 like 2 [Source:HGNC Symbol;Acc:HGNC:21296] |
| Ensembl ID | ENSG00000177106 |
| Bio databases IDs | |
| Aliases | EPS8 like 2 |
| Synonyms | DFNB106, EPS8-like 2, EPS8R2, EPS8 signaling adaptor L2 |
| 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 EPS8L2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- SAM (Sterile alpha motif )
- actin binding
- guanyl-nucleotide exchange factor
- SAM domain (Sterile alpha motif)
- protein binding
- Pleckstrin homology-like domain
- zDHHC ankyrin repeat binding 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
- autosomal recessive deafness type 106
- age-related hearing loss
- familial nonsyndromic hearing impairment
regulates
role in cell
- morphology
- abnormal morphology
- number
- remodeling
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
- ruffle
- centrosome
- cytosol
- stereocilia
- membrane ruffles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPS8L2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- regulation of Rho protein signal transduction
- Rho protein signal transduction
- positive regulation of ruffle assembly
Cellular Component
Where in the cell the gene product is active
- centrosome
- extracellular vesicular exosome
- stereocilium bundle
- vesicle
- cytosol
- ruffle membrane
- macromolecular complex
- stereocilium bundle tip
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- cadherin binding
- guanyl-nucleotide exchange factor activity