Aliases for CABP2 Gene
External Ids for CABP2 Gene
Previous HGNC Symbols for CABP2 Gene
Previous GeneCards Identifiers for CABP2 Gene
This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
GeneCards Summary for CABP2 Gene
CABP2 (Calcium Binding Protein 2) is a Protein Coding gene. Diseases associated with CABP2 include Deafness, Autosomal Recessive 93 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Visual Cycle in Retinal Rods. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CABP1.
UniProtKB/Swiss-Prot for CABP2 Gene
Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity).