PAX2, Official Symbol PAX2provided by HGNC Official Full Name paired box 2provided by HGNC Primary source HGNC:HGNC:8616 See related Ensembl:ENSG00000075891 MIM:167409; AllianceGenome:HGNC:8616 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FSGS7; PAPRS; PAX-2 Summary 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] Annotation information Annotation category: suggests misassembly Expression Restricted expression toward kidney (RPKM 4.2) See more Orthologs mouse all