Entity Details

Primary name PAX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ02962
EntryNamePAX2_HUMAN
FullNamePaired box protein Pax-2
TaxID9606
Evidenceevidence at protein level
Length417
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesPAX2

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0000987 cis-regulatory region sequence-specific DNA binding
GO:0001655 urogenital system development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001709 cell fate determination
GO:0001823 mesonephros development
GO:0001843 neural tube closure
GO:0002072 optic cup morphogenesis involved in camera-type eye development
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0003406 retinal pigment epithelium development
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005764 lysosome
GO:0005815 microtubule organizing center
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007409 axonogenesis
GO:0007501 mesodermal cell fate specification
GO:0007568 aging
GO:0007601 visual perception
GO:0008134 transcription factor binding
GO:0010001 glial cell differentiation
GO:0021554 optic nerve development
GO:0021631 optic nerve morphogenesis
GO:0021633 optic nerve structural organization
GO:0021650 vestibulocochlear nerve formation
GO:0031667 response to nutrient levels
GO:0032991 protein-containing complex
GO:0032993 protein-DNA complex
GO:0034451 centriolar satellite
GO:0035566 regulation of metanephros size
GO:0035799 ureter maturation
GO:0039003 pronephric field specification
GO:0042472 inner ear morphogenesis
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043069 negative regulation of programmed cell death
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043491 protein kinase B signaling
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048793 pronephros development
GO:0048854 brain morphogenesis
GO:0048856 anatomical structure development
GO:0048863 stem cell differentiation
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060231 mesenchymal to epithelial transition
GO:0061360 optic chiasma development
GO:0070301 cellular response to hydrogen peroxide
GO:0071300 cellular response to retinoic acid
GO:0071333 cellular response to glucose stimulus
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0072075 metanephric mesenchyme development
GO:0072108 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0072162 metanephric mesenchymal cell differentiation
GO:0072179 nephric duct formation
GO:0072189 ureter development
GO:0072205 metanephric collecting duct development
GO:0072207 metanephric epithelium development
GO:0072221 metanephric distal convoluted tubule development
GO:0072289 metanephric nephron tubule formation
GO:0072300 positive regulation of metanephric glomerulus development
GO:0072305 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation
GO:0072593 reactive oxygen species metabolic process
GO:0090102 cochlea development
GO:0090103 cochlea morphogenesis
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development
GO:1900215 negative regulation of apoptotic process involved in metanephric collecting duct development
GO:1900218 negative regulation of apoptotic process involved in metanephric nephron tubule development
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000378 negative regulation of reactive oxygen species metabolic process
GO:2000594 positive regulation of metanephric DCT cell differentiation
GO:2000597 positive regulation of optic nerve formation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001523 Paired domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR022130 Paired-box protein 2 C-terminalDomainDomain
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR043182 Paired DNA-binding domainDomainDomain
IPR043565 PAX familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
616002 OMIMFocal 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. The disease is caused by variants affecting the gene represented in this entry.
120330 OMIMPapillorenal 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. The disease is caused by variants affecting the gene represented in this entry.