PAX2 Back

paired box 2

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NCBI Description of PAX2
PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor supressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants.

Community Annotation of PAX2 Add / Edit PAX2: 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

PAX2 is highly significantly mutated in
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PAX2 is significantly mutated in
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PAX2 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 PAX2