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    PAX2

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    For Research Use Only. Not For Clinical Use.


    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 suppressor 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. [provided by RefSeq, Dec 2014]
    Protein class

    Disease related genes, Human disease related genes, Transcription factors

    Predicted location

    Intracellular

    Single cell type specificity

    Cell type enhanced (Glandular and luminal cells, Collecting duct cells, Endometrial ciliated cells, Distal tubular cells)

    Immune cell specificity

    Not detected in immune cells

    Cell line specificity

    Group enriched (AN3-CA, EFO-21, RPTEC TERT1)

    Interaction

    Interacts with ELGN3; the interaction targets PAX2 for destruction. Interacts with TLE4.

    Molecular function

    Developmental protein, DNA-binding

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