PAX2 Chromosome 10
Paired box 2
Upload your DNA to see your personal genotypes for variants in PAX2.
What This Gene Does
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]
Gene Info
Gene Group
"PRD class homeoboxes and pseudogenes|Paired boxes"
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000075891
Associated Conditions (15)
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Inborn genetic diseases
PAX2-related disorder
Retinal dystrophy
Papillorenal syndrome with macular abnormalities
Nephrotic syndrome
Renal cyst
Steroid-resistant nephrotic syndrome
Focal segmental glomerulosclerosis
Renal hypoplasia
See cases
Congenital ocular coloboma
Congenital anomaly of kidney and urinary tract
Glomerular sclerosis
Key Variants
RS1227571557
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Health Risk
RS1317595421
Conflicting classifications of pathogenicity
Inborn genetic diseases, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Health Risk
RS1401507282
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Inborn genetic diseases
Health Risk
RS1845364215
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Health Risk
RS199724772
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Inborn genetic diseases
Health Risk
RS373723559
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Health Risk
RS41291450
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Health Risk
RS543423053
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
Health Risk
RS754252858
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Health Risk
RS758091898
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Inborn genetic diseases
Health Risk
RS770703982
Conflicting classifications of pathogenicity
Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Inborn genetic diseases
Health Risk
RS78738655
Conflicting classifications of pathogenicity
Retinal dystrophy, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554856034 | Health Risk | Pathogenic | — |
| RS1589813731 | Health Risk | Pathogenic | — |
| RS1845169599 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS1845410479 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7 |
| RS1845412705 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS1846531969 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS1846609262 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS1848626159 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS2133823607 | Health Risk | Pathogenic | — |
| RS2133836347 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Renal coloboma syndrome |
| RS2133894054 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2133950547 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS2133950621 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS2133956435 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS2492892561 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2492892861 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2492893039 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2492893061 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS2492898853 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2492898916 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS2492899088 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2492900237 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7 |
| RS2492900348 | Health Risk | Pathogenic | Congenital ocular coloboma, Congenital ocular coloboma |
| RS2492900437 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS2493149679 | Health Risk | Pathogenic | PAX2-related disorder, PAX2-related disorder |
| RS2493149922 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2493150282 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS75399846 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS754146050 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS75462234 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, PAX2-related disorder |
| RS76492282 | Health Risk | Pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, PAX2-related disorder |
| RS76675173 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS77777862 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS78122364 | Health Risk | Pathogenic | Renal coloboma syndrome, Renal coloboma syndrome |
| RS886037754 | Health Risk | Pathogenic | — |
| RS886037755 | Health Risk | Pathogenic | — |
| RS886037756 | Health Risk | Pathogenic | — |
| RS886037757 | Health Risk | Pathogenic | — |
| RS922533851 | Health Risk | Pathogenic | PAX2-related disorder, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS1554865146 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2133836340 | Health Risk | Pathogenic/Likely pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS2133894273 | Health Risk | Pathogenic/Likely pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS2133950639 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 |
| RS2492893824 | Health Risk | Pathogenic/Likely pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS387906530 | Health Risk | Pathogenic/Likely pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |
| RS747453876 | Health Risk | Pathogenic/Likely pathogenic | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome |