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PAX2
HPA
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  • PAX2
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

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.

PAX2
Synonyms PAX-2
Gene descriptioni

Full gene name according to HGNC.

Paired box 2
Protein classi

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.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

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.

9
Ensembl ENSG00000075891 (version 109)
Entrez gene 5076
HGNC HGNC:8616
UniProt Q02962 (UniProt - Evidence at protein level)
neXtProt NX_Q02962
GeneCards PAX2
Antibodypedia PAX2 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

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.

Differentiation, Transcription, Transcription regulation
Gene summary (Entrez)i

Useful information about the gene from Entrez

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.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PAX2-201
ENSP00000347385
ENST00000355243
Q02962
[Direct mapping] Paired box protein Pax-2
Show all
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: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]
Show all
394 aa
42.2 kDa
No 0
PAX2-202
ENSP00000355069
ENST00000361791
A0A0A0MRH7
[Direct mapping] Paired box protein Pax-2
Show all
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
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [DNA-templated transcription]
GO:0006355 [regulation of DNA-templated transcription]
Show all
393 aa
42.2 kDa
No 0
PAX2-203
ENSP00000359319
ENST00000370296
Q02962
[Direct mapping] Paired box protein Pax-2
Show all
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]
Show all
396 aa
42 kDa
No 0
PAX2-204
ENSP00000398652
ENST00000427256
Q5SZP1
[Direct mapping] Paired box gene 2, isoform CRA_a; Paired box protein Pax-2
Show all
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
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [DNA-templated transcription]
GO:0006355 [regulation of DNA-templated transcription]
Show all
409 aa
43.9 kDa
No 0
PAX2-205
ENSP00000396259
ENST00000428433
Q02962
[Direct mapping] Paired box protein Pax-2
Show all
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]
Show all
417 aa
44.7 kDa
No 0
PAX2-208
ENSP00000452489
ENST00000554172
G3V5S4
[Direct mapping] Paired box protein Pax-2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the urinary system
   Urinary system diseases
   Kidney diseases
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [DNA-templated transcription]
GO:0006355 [regulation of DNA-templated transcription]
Show all
304 aa
32.4 kDa
Yes 0
PAX2-210
ENSP00000506041
ENST00000679374
A0A7P0TAC9
[Direct mapping] Paired box protein Pax-2
Show all
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
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006355 [regulation of DNA-templated transcription]
Show all
388 aa
41.4 kDa
No 0
PAX2-211
ENSP00000516729
ENST00000707078
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the urinary system
   Urinary system diseases
   Kidney diseases
Show all
GO:0003677 [DNA binding]
GO:0006355 [regulation of DNA-templated transcription]
Show all
425 aa
45.3 kDa
Yes 0
PAX2-212
ENSP00000516730
ENST00000707079
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
Show all
GO:0003677 [DNA binding]
GO:0006355 [regulation of DNA-templated transcription]
Show all
432 aa
46.4 kDa
No 0

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