Clarin-2 (CLRN2)

Clarin-2 (CLRN2) is a small integral membrane glycoprotein with four transmembrane domains and a C-terminal class-II PDZ-binding motif, belonging to a superfamily including PMP-22/EMP/EP20/Claudins and tetraspan proteins[1][2][3]. This protein is critically required for the normal organization and maintenance of the stereocilia bundle, structures in the cochlear hair cells essential for hearing mechano-electrical transduction[2][3][4][6]. Genetic studies and mouse knockout models demonstrate that loss of clarin-2 leads to early-onset progressive hearing loss without overt syndromic features, principally due to failure in maintaining the integrity and function of auditory hair cell stereocilia[2][3][4]. Variants in the human CLRN2 gene are strongly associated with risk of progressive, non-syndromic hearing loss but have not been robustly linked to other systemic disease[2][3][5][6]. CLRN2 is not considered a drug target (such as a receptor or enzyme), and no known drugs act directly on it[3][6].

Other names

DFNB117clarin-2CLRN2