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paired box protein PAX2 (PAX2)
Function:
- probable transcription factor that may have a role in kidney cell differentiation
- role in development of
a) urogenital tract
b) eyes
c) 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
General
paired box protein (PAX)
Properties
SIZE: MW = 45 kD
entity length = 416 aa
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 16-140
Database Correlations
OMIM correlations
MORBIDMAP 167409
UniProt Q02962
Pfam PF00292
Entrez Gene 5076
Kegg hsa:5076
References
- UniProt :accession Q02962
- Entrez Gene :accession 5076
- PAX2 mutation db
http://www.hgu.mrc.ac.uk/Softdata/PAX2/
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/PAX2ID41642ch10q24.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX2