Full name: calcium and integrin binding family member 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DFNB48; KIP2; USH1J

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

Gene size: 26930bp

Exon count: 7