AlphaFold predicted structure
PAX2 · Q02962
Mean pLDDT
60.9/ 100
Low
417 residues
Confidence breakdown
- Very high(≥ 90)26%
- Confident(70–90)9%
- Low(50–70)12%
- Very low(< 50)53%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PAX2
Chr 10q24.31paired box 2
- Aliases:
- PAX-2
- MANE:
- ENST00000355243.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOcular coloboma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedProteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
renal coloboma syndrome
0.84focal segmental glomerulosclerosis 7
0.81familial idiopathic steroid-resistant nephrotic syndrome
0.66focal segmental glomerulosclerosis
0.66neurodegenerative disease
0.49hereditary disease
0.49Retinal dystrophy
0.42congenital anomalies of kidney and urinary tract 1
0.40Abnormality of the skeletal system
0.38obesity disorder
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Paired box protein Pax-2
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
Diseases associated with PAX2
Curated MONDO disease pages that list PAX2 among their top associated genes.