NKX2-5 Back

NK2 transcription factor related, locus 5 (Drosophila)

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NCBI Description of NKX2-5
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants.

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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

NKX2-5 is highly significantly mutated in
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NKX2-5 is significantly mutated in
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NKX2-5 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 NKX2-5