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CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture.

Disease models & mechanisms - 1 Mar 2025

Giese Arnaud P J, Parker Andrew, Rehman Sakina, Brown Steve D M, Riazuddin Saima, Vander Kooi Craig W, Bowl Michael R, Ahmed Zubair M

Abstract excerpt

Humans and mice with mutations in genes encoding CIB2 and whirlin (WHRN) are deaf. We previously reported that CIB2 binds to WHRN and is essential for stereocilia staircase architecture of cochlear hair cells. Here, we refine the interaction domains of both proteins and show that these proteins play unique roles in stereocilia bundle formation and organization. We found that the EF2 domain of CIB2 binds to the...

Topics

Animals
Stereocilia
Calcium-Binding Proteins
Mice, Knockout
Membrane Proteins
Mice
Hair Cells, Auditory
Protein Binding
Hearing
Deafness
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cochlea

Models, Molecular

Source

Open in PubMed Open full text

Identifiers

PMID: 40083274
DOI: 10.1242/dmm.052043
PMCID: PMC11992350

Genes

CIB2
WHRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture.PMID 40083274Read ↗

CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase patternSemantic proximity Read ↗

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.Semantic proximity Read ↗

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Semantic proximity Read ↗

The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development.Semantic proximity Read ↗

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.Semantic proximity Read ↗

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