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CIB2
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.
Protein class
Cancer-related genes, Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Group enriched (Late spermatids, Early spermatids)
Immune cell specificity
Immune cell enriched (plasmacytoid DC)
Cell line specificity
Cell line enhanced (AN3-CA, GAMG, HAP1, SCLC-21H, SH-SY5Y, SuSa)
Interaction
Homodimer (PubMed:23023331). Interacts with WHRN and MYO7A (PubMed:23023331, PubMed:26426422). Interacts with ITGA2B (via C-terminus cytoplasmic tail region) and ITGA7 (via C-terminus cytoplasmic tail region); the interactions are stabilized/increased in a calcium and magnesium-dependent manner (PubMed:22779914).
More Types Infomation
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: ELISA, IHC-P
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- Species Reactivity: Human
- Type: Mouse antibody
- Application: WB
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For Research Use Only. Not For Clinical Use.