Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.I123T
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CIB2

NM_006383.4:p.I123T

Associated Papers

Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss.

Wu S et al.

Developmental Cell, 2025

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

Giese APJ et al.

Disease Models & Mechanisms, 2025

Structural insights into calcium-dependent CIB2-TMC1 interaction in hair cell mechanotransduction.

Li Y et al.

Communications Biology, 2025

CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern.

Giese APJ et al.

Biorxiv : the Preprint Server for Biology, 2024

Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells.

Aristizábal-Ramírez I et al.

Biorxiv : the Preprint Server for Biology, 2023

Mechanoelectrical transduction-related genetic forms of hearing loss.

Jung J et al.

Current Opinion in Physiology, 2023

CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.

Liang X et al.

Neuron, 2021

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT et al.

Clinical Genetics, 2018

Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J.

Vallone R et al.

Frontiers in Molecular Neuroscience, 2018

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.

Giese APJ et al.

Nature Communications, 2017

Advances in genetic hearing loss: CIB2 gene.

Jacoszek A et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2017

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf

Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.

Jan A

Clinical Genetics, 2013

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S et al.

Nature Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."