TMEM43 Back

transmembrane protein 43

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NCBI Description of TMEM43

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC.

Community Annotation of TMEM43 Add / Edit TMEM43: Annotations

No community annotations yet for TMEM43.
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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).


TMEM43 is highly significantly mutated in
TMEM43 is significantly mutated in
TMEM43 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for TMEM43