paired box protein PAX2 (PAX2)

Function

• probable transcription factor that may have a role in kidney cell differentiation
• role in development of
  • urogenital tract
  • eyes
  • CNS

Structure

contains 1 paired domain

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

• expressed in primitive cells of the kidney, ureter, eye, ear & central nervous system

mainly in fetal kidney & juvenile nephrogenic rests

Pathology

• defects in PAX2 are the cause of renal-coloboma syndrome
• defects in PAX2 may be responsible for isolated renal hypoplasia as observed in oligomeganephronia

More general terms

• paired box protein (PAX)

Database

• UniProt: http://www.uniprot.org/uniprot/Q02962.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5076
• OMIM: https://mirror.omim.org/entry/120330
• OMIM: https://mirror.omim.org/entry/167409
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5076