Expression landscape of the genetic hearing loss protein whirlin across human tissues and cell types

ABSTRACT Whirlin (WHRN/DFNB31) is a cytosekeltal scaffolding protein essential for the development and function of sensory cells in the inner ear and retina, yet its distribution and potential roles in other human tissues remain poorly defined. Here, we present a comprehensive expression map of whirlin by integrating bulk RNA, single-cell RNA, and antibody-based proteomics data generated as part of the Human Protein Atlas consortium. WHRN was detected in most human tissues, with highest levels observed in endocrine organs, reproductive tissues, and the nervous system. Single-cell analysis revealed that this distribution is driven by enrichment in specific cell types, including endocrine, ciliated, and specialized epithelial cells, as well as different immune cells. Immunohistochemistry confirmed broad protein expression with cell type-specific patterns consistent with transcriptomic data. Analysis of cancer tissues showed that whirlin is widely expressed, with levels generally reflecting those of corresponding normal tissues. In addition, several commonly used human cell lines were found to express endogenous WHRN. Together, this work provides the first comprehensive body-wide expression landscape of whirlin and establishes an important resource for further studies on its roles beyond hearing and vision. SUBJECTS Cells; Genetics; Immunology; Peptides and proteins; Protein expression Competing Interest Statement The authors have declared no competing interest.