PAX2

Chr 10

paired box 2

Also known as: FSGS7, PAPRS, PAX-2

NCBI Gene: 5076 ENSG00000075891 UniProt: Q02962

PAX2 encodes a transcription factor containing a conserved DNA-binding paired box domain that regulates gene expression in the nucleus. Mutations cause autosomal dominant papillorenal syndrome and focal segmental glomerulosclerosis type 7, characterized by optic nerve colobomas and renal hypoplasia. The pathogenic mechanism involves loss of function of this critical transcriptional regulator.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPapillorenal syndrome

UniProtFocal segmental glomerulosclerosis 7

Clinical highlights

Gene-disease validity (ClinGen)

focal segmental glomerulosclerosis 7 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

102

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.43

LOEUF

LOF

Mechanism· G2P

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