Target intelligence / Profile preview

Epidermal growth factor receptor kinase substrate 8-like protein 2 (EPS8L2)

Target
EPS8L2
Molecular classification
Adaptor protein, Signaling adaptor, Actin-binding protein, Other
01

Overview

Epidermal growth factor receptor kinase substrate 8-like protein 2 (EPS8L2) is a cytoplasmic adaptor and actin-binding protein belonging to the EPS8 family, characterized by its modular structure with actin-binding and SH3 domains. EPS8L2 is predominantly expressed in the tips of hair cell stereocilia, where it plays a key role in the long-term maintenance and integrity of the stereociliary structure essential for mechanotransduction in hearing. Mutations or loss of function in EPS8L2 are linked to progressive and late-onset hearing loss due to gradual deterioration of hair bundle morphology. EPS8L2 is biochemically and functionally related to EPS8, with partial functional redundancy; it contributes to receptor tyrosine kinase signaling cascades that regulate actin remodeling but is not known to be a direct target of approved drugs or components of well-defined targeted therapeutic mechanisms[1][2][3].

Other names
EPS8 signaling adaptor L2EPS8L2EPS8R2PP13181EPS8-like protein 2EPS8-related protein 2FLJ21935FLJ22171MGC3088Epidermal growth factor receptor pathway substrate 8-related protein 2DFNB106
02

Biological functions

Actin cytoskeletal organizationSignal transduction (especially downstream of receptor tyrosine kinases in the Ras/Rac pathways)Maintenance of hair cell stereocilia bundle structureCell morphology
03

Disease associations

Progressive, non-syndromic hearing lossSensorineural deafnessOther

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