Gene Symbol | CIB2 |
Entrez Gene ID | 10518 |
Full Name | calcium and integrin binding family member 2 |
Synonyms | DFNB48,KIP2,USH1J |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 48, 609439 (3); Usher syndrome, type IJ, 614869 (3) |