CDHR3

Description

The CDHR3 (cadherin related family member 3) is a protein-coding gene located on chromosome 7.

CDHR3, also known as CDH28 or CDHR3, is a protein encoded by the CDHR3 gene in humans. It is primarily expressed in the respiratory epithelium and has been linked to early severe asthma exacerbations in children. Genetic variations in CDHR3 have been strongly associated with these exacerbations. Further research suggests that CDHR3 serves as a receptor for a subtype of rhinovirus. While the exact function of CDHR3 is not fully understood, its presence in epithelial tissues and its six extracellular cadherin domains, along with a short transmembrane segment, indicate a role in cell adhesion and cell-to-cell signaling, similar to other cadherins. Studies using single-cell RNA expression analysis have identified CDHR3 as a marker for ciliated cells in respiratory airway tissue, as it is selectively expressed in these cells compared to other cell types in the respiratory epithelium. A nonsynonymous mutation in CDHR3 at rs6967330 (C529Y) has been associated with severe asthma exacerbations in early childhood. Functional experiments have shown that this polymorphism leads to increased surface expression of CDHR3. Additional studies have linked CDHR3 to rhinovirus type C, a common form of rhinovirus, suggesting it acts as a receptor for this virus. While variations in CDHR3 have been associated with childhood bronchiolitis not caused by RSV infection, which is often linked to rhinovirus, these variations have not been linked to bronchiolitis caused by respiratory syncytial virus (RSV) infection, which shares phenotypic similarities with early asthma exacerbations.

Cadherins are a family of calcium-dependent cell adhesion proteins that play a crucial role in cell-cell interactions. They exhibit a preference for binding to identical cadherin molecules on neighboring cells, a phenomenon known as homophilic interaction. This selective binding contributes to the organization and sorting of diverse cell types within tissues.

CDHR3 is also known as CDH28.

Associated Diseases

WES Whole Exome Sequencing