Anti-CIB2

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014], Protein function: Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis. Acts as a auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells. Essential for mechanoelectrical transduction (MET) currents in auditory hair cells and thereby required for hearing. 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. Required for the maintenance of auditory hair cell stereocilia bundle morphology and function and for hair-cell survival in the cochlea. Critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). [The UniProt Consortium] Recommended dilutions: Immunohistochemistry: 1/100 - 1/300. ELISA: 1/5000. Not yet tested in other applications.. Cellular localization: Cytoplasm . Cell projection, stereocilium . Photoreceptor inner segment . Cell projection, cilium, photoreceptor outer segment . Cell membrane, sarcolemma . Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). Localizes in the cuticular plate along and at the tip of the stereocilia of vestibular sensory hair cells (PubMed:26173970, PubMed:26426422). .