TMEM231 Back

transmembrane protein 231

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NCBI Description of TMEM231

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene.

Community Annotation of TMEM231 Add / Edit TMEM231: 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

TMEM231 is highly significantly mutated in
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TMEM231 is significantly mutated in
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TMEM231 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 TMEM231