Gene: CIB2

Alternate names for this Gene: DFNB48|KIP2|USH1J

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: calcium and integrin binding family member 2

Type of Gene: protein-coding

rs370359511 in CIB2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 48 PMID 23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

PMID 26173970 2016 Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.

PMID 26426422 2015 A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.

rs145415848 in CIB2 gene and USHER SYNDROME, TYPE IJ PMID 23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

rs145415848 in CIB2 gene and Usher Syndrome, Type I PMID 23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.