PAX2

Developmental stage

Mainly in fetal kidney and juvenile nephrogenic rests.

Function

Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.

Involvement in disease

Papillorenal syndrome

PAPRS

An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.

None

The disease is caused by variants affecting the gene represented in this entry.

Focal segmental glomerulosclerosis 7

FSGS7

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue specificity

Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

Cellular localization

• Nucleus

Alternative names

• Paired box protein Pax-2
• PAX2

Database links

• entrezGene:5076
• omim:167409
• swissprot:Q02962

Target type

Proteins

Molecular weight

44706Da