InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX2

Summary

InnateDB Protein

IDBP-384448.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX2

Protein Name

paired box 2

Synonyms

FSGS7; PAPRS;

Species

Homo sapiens

Ensembl Protein

ENSP00000396259

InnateDB Gene

IDBG-86634 (PAX2)

Protein Structure

UniProt Annotation

Function

Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS.

Subcellular Localization

Nucleus.

Disease Associations

Papillorenal syndrome (PAPRS) [MIM:120330]: 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. {ECO:0000269PubMed:15652857, ECO:0000269PubMed:19954729, ECO:0000269PubMed:22213154, ECO:0000269PubMed:9760197}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in PAX2 can be responsible for isolated renal hypodysplasia and oligomeganephronia (OMN). This is a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000987	core promoter proximal region sequence-specific DNA binding
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0016175	superoxide-generating NADPH oxidase activity
GO:0044212	transcription regulatory region DNA binding

Biological Process

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:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007409	axonogenesis
GO:0007501	mesodermal cell fate specification
GO:0007601	visual perception
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: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:0045918	negative regulation of cytolysis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048793	pronephros development
GO:0048854	brain morphogenesis
GO:0048863	stem cell differentiation
GO:0050679	positive regulation of epithelial cell proliferation
GO:0055114	oxidation-reduction process
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: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: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