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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
10
Cytoband
q24.31
Chromosome location (bp)
100735396 - 100829944
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that may have a role in kidney cell differentiation 1. Has a critical role in the development of the urogenital tract, the eyes, and the CNS....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
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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:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005764[lysosome] GO:0005815[microtubule organizing center] GO:0006355[regulation of DNA-templated transcription] 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:0008284[positive regulation of cell population 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:0030154[cell differentiation] 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 DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] 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]
A0A0A0MRH7 [Direct mapping] Paired box protein Pax-2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
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:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005815[microtubule organizing center] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007409[axonogenesis] GO:0007501[mesodermal cell fate specification] 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:0030154[cell differentiation] 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 DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] 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: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]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
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:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005815[microtubule organizing center] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007409[axonogenesis] GO:0007501[mesodermal cell fate specification] 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:0030154[cell differentiation] 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 DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] 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: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]
A0A7P0TAC9 [Direct mapping] Paired box protein Pax-2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the urinary system Urinary system diseases Kidney diseases