HEATR2 Back

HEAT repeat containing 2

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NCBI Description of HEATR2

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene.

Community Annotation of HEATR2 Add / Edit HEATR2: 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

HEATR2 is highly significantly mutated in
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HEATR2 is significantly mutated in
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HEATR2 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 HEATR2