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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 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.
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

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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