Version 5.4
Homo sapiens Gene: PAX2
Summary
InnateDB Gene IDBG-86634.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX2
Gene Name paired box 2
Synonyms FSGS7; PAPRS
Species Homo sapiens
Ensembl Gene ENSG00000075891
Encoded Proteins
IDBP-86636
paired box 2
IDBP-86638
paired box 2
IDBP-86642
paired box 2
IDBP-384448
paired box 2
IDBP-384450
paired box 2
IDBP-583488
paired box 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 supressor 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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:100735603-100829941
Strand Forward strand
Band q24.31
Transcripts
ENST00000370296 ENSP00000359319
ENST00000361791 ENSP00000355069
ENST00000355243 ENSP00000347385
ENST00000428433 ENSP00000396259
ENST00000427256 ENSP00000398652
ENST00000483202
ENST00000553492
ENST00000554363
ENST00000554172 ENSP00000452489
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
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
GO:0070742 C2H2 zinc finger domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001655 urogenital system development
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001709 cell fate determination
GO:0001822 kidney development
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:0007275 multicellular organismal development
GO:0007409 axonogenesis
GO:0007417 central nervous system development
GO:0007501 mesodermal cell fate specification
GO:0007568 aging
GO:0007601 visual perception
GO:0008284 positive regulation of cell proliferation
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:0031016 pancreas development
GO:0031667 response to nutrient levels
GO:0035566 regulation of metanephros size
GO:0035799 ureter maturation
GO:0039003 pronephric field specification
GO:0042472 inner ear morphogenesis
GO:0042981 regulation of apoptotic process
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043067 regulation of programmed cell death
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:0048513 organ development
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:0061205 paramesonephric duct development
GO:0061360 optic chiasma development
GO:0070301 cellular response to hydrogen peroxide
GO:0071260 cellular response to mechanical stimulus
GO:0071300 cellular response to retinoic acid
GO:0071333 cellular response to glucose stimulus
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0072001 renal system development
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:0072164 mesonephric tubule development
GO:0072172 mesonephric tubule formation
GO:0072177 mesonephric duct development
GO:0072179 nephric duct formation
GO:0072189 ureter development
GO:0072197 ureter morphogenesis
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
Cellular Component
GO:0005634 nucleus
GO:0005764 lysosome
GO:0005815 microtubule organizing center
GO:0032993 protein-DNA complex
GO:0034451 centriolar satellite
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004231
View Gene Order
ENSBTAG00000021566
Not yet available
Pathways
NETPATH
NetPath_5
ID pathway
NetPath_8
Wnt pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.155644 Hs.606681
RefSeq NM_000278 NM_003987 NM_003988 NM_003989 NM_003990
HUGO
OMIM
CCDS CCDS41561 CCDS7499
HPRD 01330
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca