| PAX2 |
| LOCUS ID | 5076 | ||||||||||
| GENE_SYMBOL | PAX2 | ||||||||||
| GENE NAME | paired box 2 | ||||||||||
| SYNONYMNS | FSGS7 PAPRS | ||||||||||
| CHROMOSOME | 10 | ||||||||||
| HOMOLOGENE ID | 2968 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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, De |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Atherosclerosis | 1. Gene variant rs6584389 A>C near to PAX2 gene was associated with increased carotid IMT in patients with type 2 diabetes independently of the other main risk factors for atherosclerosis. | 29671694 |