Aliases for CIB2 Gene
External Ids for CIB2 Gene
Previous HGNC Symbols for CIB2 Gene
Previous GeneCards Identifiers for CIB2 Gene
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]
GeneCards Summary for CIB2 Gene
CIB2 (Calcium And Integrin Binding Family Member 2) is a Protein Coding gene. Diseases associated with CIB2 include Deafness, Autosomal Recessive 48 and Usher Syndrome, Type Ij. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is CIB3.
UniProtKB/Swiss-Prot for CIB2 Gene
Calcium-binding protein 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). May be involved in the mechanotransduction process (By similarity).