Aliases for PAX2 Gene
External Ids for PAX2 Gene
Previous GeneCards Identifiers for PAX2 Gene
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]
GeneCards Summary for PAX2 Gene
PAX2 (Paired Box 2) is a Protein Coding gene. Diseases associated with PAX2 include Papillorenal Syndrome and Focal Segmental Glomerulosclerosis 7. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription regulatory region DNA binding. An important paralog of this gene is PAX5.
UniProtKB/Swiss-Prot Summary for PAX2 Gene
Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.