CIB2, Official Symbol CIB2provided by HGNC Official Full Name calcium and integrin binding family member 2provided by HGNC Primary source HGNC:HGNC:24579 See related Ensembl:ENSG00000136425 MIM:605564; AllianceGenome:HGNC:24579 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIP2; USH1J; DFNB48 Summary 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] Expression Broad expression in small intestine (RPKM 6.5), testis (RPKM 5.9) and 23 other tissues See more Orthologs mouse all