CIB2


Description

The CIB2 (calcium and integrin binding family member 2) is a protein-coding gene located on chromosome 15.

CIB2, also known as Kinase-interacting protein 2, is a calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis. It acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells. CIB2 is essential for mechanoelectrical transduction (MET) currents in auditory hair cells and thereby required for hearing. It regulates the function of hair cell mechanotransduction by controlling the distribution of transmembrane channel-like proteins TMC1 and TMC2, and by regulating the function of the MET channels in hair cells. CIB2 is required for the maintenance of auditory hair cell stereocilia bundle morphology and function and for hair-cell survival in the cochlea. It is critical for proper photoreceptor cell maintenance and function. CIB2 plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release. It can exist as a monomer or a homodimer. CIB2 interacts with WHRN, MYO7A, ITGA2B, ITGA7, TMC1, and TMC2.

CIB2 plays a role in intracellular calcium homeostasis, acting as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells. It is essential for mechanoelectrical transduction currents in auditory hair cells and thus required for hearing. CIB2 regulates hair cell mechanotransduction by controlling the distribution of transmembrane channel-like proteins TMC1 and TMC2, and by regulating the function of the MET channels in hair cells. It is required for the maintenance of auditory hair cell stereocilia bundle morphology and function, as well as for hair-cell survival in the cochlea. CIB2 is critical for proper photoreceptor cell maintenance and function. CIB2 has been shown to decrease ATP-induced calcium release, further supporting its role in intracellular calcium homeostasis.

CIB2 is also known as DFNB48, KIP2, USH1J.

Associated Diseases


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