CATSPERB encodes an auxiliary subunit of the CatSper ion channel complex, a sperm-specific calcium channel essential for male fertility. As a component of this heteromultimeric channel complex, CATSPERB functions to facilitate sperm hyperactivation—the vigorous flagellar beating necessary for successful fertilization 1. The CatSper complex, including CATSPERB, evolved early in metazoan development and has undergone rapid evolution with distinct functional constraints on individual domains 1. Beyond its primary reproductive role, CATSPERB appears relevant to broader physiological processes; genome-wide association studies identified CATSPERB SNPs associated with femoral neck bone mineral density in premenopausal women, suggesting pleiotropic effects 2. In pathological contexts, CATSPERB has emerged as a tumor-associated gene. A CATSPERB-TC2N gene fusion generating recurrent neoantigens was identified in thymic carcinoma patients, representing a potential immunotherapy target 3. Additionally, CATSPERB was identified as a functional protein partner of TC2N, an oncogene implicated in multiple cancer types 4. Rare somatic CATSPERB mutations have been detected in serrated polyposis syndrome lesions 5. These findings suggest CATSPERB functions extend beyond sperm biology to cancer-related pathways, though the mechanistic basis of these associations requires further investigation.
No tissue expression data available for this gene.