CALB2 Back

calbindin 2, 29kDa (calretinin)

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NCBI Description of CALB2

This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants.

Community Annotation of CALB2 Add / Edit CALB2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CALB2 is highly significantly mutated in
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CALB2 is significantly mutated in
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CALB2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for CALB2