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gene: CIB2

id10518
symbolCIB2
organismHomo sapiens
full namecalcium and integrin binding family member 2
summaryThe 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]
variant-disease

NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) AND Deafness, autosomal recessive 48

NM_006383.4(CIB2):c.477C>T (p.Asp159=) AND not specified

NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) AND Usher syndrome, type 1

NM_006383.4(CIB2):c.231G>A (p.Ala77=) AND not provided

NM_006383.4(CIB2):c.199-92C>T AND not provided

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