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Gene id

5076

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PAX2 Gene UCSC Ensembl

Aliases

FSGS7, PAPRS

Gene name

paired box 2

Alternate names

paired box protein Pax-2, paired box homeotic gene 2,

Gene location

10q24.31 (100732939: 100829940) Exons: 16 NC_000010.11

Gene summary(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]

OMIM

167409

Protein Summary

Protein general information

Q02962

Name: Paired box protein Pax 2

Length: 417 Mass: 44,706

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

Sequence

MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYET
GSIKPGVIGGSKPKVATPKVVDKIAEYKRQNPTMFAWEIRDRLLAEGICDNDTVPSVSSINRIIRTKVQQPFHPT
PDGAGTGVTAPGHTIVPSTASPPVSSASNDPVGSYSINGILGIPRSNGEKRKRDEVEVYTDPAHIRGGGGLHLVW
TLRDVSEGSVPNGDSQSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPGL
DEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTSTLAGMVPGSEFSGNPYSHP
QYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH

Structural information

Protein Domains	Paired. (16-142)
Interpro:	IPR009057 IPR001523 IPR022130 IPR011991
Prosite:	PS00034 PS51057
Pfam:	PF00292 PF12403
CDD:	cd00131
STRING:	ENSP00000396259;

Other Databases

GeneCards: PAX2; Malacards: PAX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001655	urogenital system develop ment	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IEP	biological_process
GO:0001709	cell fate determination	ISS	biological_process
GO:0001823	mesonephros development	ISS	biological_process
GO:0001843	neural tube closure	ISS	biological_process
GO:0002072	optic cup morphogenesis i nvolved in camera-type ey e development	ISS	biological_process
GO:0003337	mesenchymal to epithelial transition involved in m etanephros morphogenesis	ISS	biological_process
GO:0003406	retinal pigment epitheliu m development	ISS	biological_process
GO:0003677	DNA binding	ISS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005815	microtubule organizing ce nter	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	ISS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0007409	axonogenesis	TAS	biological_process
GO:0007501	mesodermal cell fate spec ification	ISS	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007601	visual perception	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010001	glial cell differentiatio n	ISS	biological_process
GO:0016175	superoxide-generating NAD PH oxidase activity	ISS	molecular_function
GO:0021554	optic nerve development	ISS	biological_process
GO:0021631	optic nerve morphogenesis	ISS	biological_process
GO:0021633	optic nerve structural or ganization	ISS	biological_process
GO:0021650	vestibulocochlear nerve f ormation	ISS	biological_process
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0034451	centriolar satellite	IDA	cellular_component
GO:0035566	regulation of metanephros size	IMP	biological_process
GO:0035799	ureter maturation	ISS	biological_process
GO:0039003	pronephric field specific ation	ISS	biological_process
GO:0042472	inner ear morphogenesis	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0043069	negative regulation of pr ogrammed cell death	ISS	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043234	protein complex	ISS	cellular_component
GO:0043491	protein kinase B signalin g	ISS	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045918	negative regulation of cy tolysis	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048793	pronephros development	ISS	biological_process
GO:0048854	brain morphogenesis	ISS	biological_process
GO:0048863	stem cell differentiation	ISS	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060231	mesenchymal to epithelial transition	ISS	biological_process
GO:0061360	optic chiasma development	ISS	biological_process
GO:0070301	cellular response to hydr ogen peroxide	ISS	biological_process
GO:0071300	cellular response to reti noic acid	ISS	biological_process
GO:0071333	cellular response to gluc ose stimulus	ISS	biological_process
GO:0071364	cellular response to epid ermal growth factor stimu lus	IEA	biological_process
GO:0072075	metanephric mesenchyme de velopment	ISS	biological_process
GO:0072108	positive regulation of me senchymal to epithelial t ransition involved in met anephros morphogenesis	ISS	biological_process
GO:0072162	metanephric mesenchymal c ell differentiation	ISS	biological_process
GO:0072179	nephric duct formation	ISS	biological_process
GO:0072189	ureter development	ISS	biological_process
GO:0072205	metanephric collecting du ct development	ISS	biological_process
GO:0072207	metanephric epithelium de velopment	IEP	biological_process
GO:0072221	metanephric distal convol uted tubule development	ISS	biological_process
GO:0072289	metanephric nephron tubul e formation	ISS	biological_process
GO:0072300	positive regulation of me tanephric glomerulus deve lopment	ISS	biological_process
GO:0072305	negative regulation of me senchymal cell apoptotic process involved in metan ephric nephron morphogene sis	ISS	biological_process
GO:0072307	regulation of metanephric nephron tubule epithelia l cell differentiation	ISS	biological_process
GO:0072593	reactive oxygen species m etabolic process	ISS	biological_process
GO:0090102	cochlea development	ISS	biological_process
GO:0090103	cochlea morphogenesis	ISS	biological_process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	ISS	biological_process
GO:1900212	negative regulation of me senchymal cell apoptotic process involved in metan ephros development	ISS	biological_process
GO:1900215	negative regulation of ap optotic process involved in metanephric collecting duct development	ISS	biological_process
GO:1900218	negative regulation of ap optotic process involved in metanephric nephron tu bule development	ISS	biological_process
GO:2000378	negative regulation of re active oxygen species met abolic process	IDA	biological_process
GO:2000594	positive regulation of me tanephric DCT cell differ entiation	ISS	biological_process
GO:2000597	positive regulation of op tic nerve formation	ISS	biological_process
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001655	urogenital system develop ment	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IEP	biological_process
GO:0001709	cell fate determination	ISS	biological_process
GO:0001823	mesonephros development	ISS	biological_process
GO:0001843	neural tube closure	ISS	biological_process
GO:0002072	optic cup morphogenesis i nvolved in camera-type ey e development	ISS	biological_process
GO:0003337	mesenchymal to epithelial transition involved in m etanephros morphogenesis	ISS	biological_process
GO:0003406	retinal pigment epitheliu m development	ISS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	ISS	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005815	microtubule organizing ce nter	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	ISS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007409	axonogenesis	TAS	biological_process
GO:0007501	mesodermal cell fate spec ification	ISS	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007601	visual perception	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0010001	glial cell differentiatio n	ISS	biological_process
GO:0016175	superoxide-generating NAD PH oxidase activity	ISS	molecular_function
GO:0021554	optic nerve development	ISS	biological_process
GO:0021631	optic nerve morphogenesis	ISS	biological_process
GO:0021633	optic nerve structural or ganization	ISS	biological_process
GO:0021650	vestibulocochlear nerve f ormation	ISS	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0034451	centriolar satellite	IDA	cellular_component
GO:0035566	regulation of metanephros size	IMP	biological_process
GO:0035799	ureter maturation	ISS	biological_process
GO:0039003	pronephric field specific ation	ISS	biological_process
GO:0042472	inner ear morphogenesis	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0043069	negative regulation of pr ogrammed cell death	ISS	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043234	protein complex	ISS	cellular_component
GO:0043491	protein kinase B signalin g	ISS	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045918	negative regulation of cy tolysis	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048513	animal organ development	IEA	biological_process
GO:0048793	pronephros development	ISS	biological_process
GO:0048854	brain morphogenesis	ISS	biological_process
GO:0048863	stem cell differentiation	ISS	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060231	mesenchymal to epithelial transition	ISS	biological_process
GO:0061360	optic chiasma development	ISS	biological_process
GO:0070301	cellular response to hydr ogen peroxide	ISS	biological_process
GO:0071300	cellular response to reti noic acid	ISS	biological_process
GO:0071333	cellular response to gluc ose stimulus	ISS	biological_process
GO:0071364	cellular response to epid ermal growth factor stimu lus	IEA	biological_process
GO:0072075	metanephric mesenchyme de velopment	ISS	biological_process
GO:0072108	positive regulation of me senchymal to epithelial t ransition involved in met anephros morphogenesis	ISS	biological_process
GO:0072162	metanephric mesenchymal c ell differentiation	ISS	biological_process
GO:0072179	nephric duct formation	ISS	biological_process
GO:0072189	ureter development	ISS	biological_process
GO:0072205	metanephric collecting du ct development	ISS	biological_process
GO:0072207	metanephric epithelium de velopment	IEP	biological_process
GO:0072221	metanephric distal convol uted tubule development	ISS	biological_process
GO:0072289	metanephric nephron tubul e formation	ISS	biological_process
GO:0072300	positive regulation of me tanephric glomerulus deve lopment	ISS	biological_process
GO:0072305	negative regulation of me senchymal cell apoptotic process involved in metan ephric nephron morphogene sis	ISS	biological_process
GO:0072307	regulation of metanephric nephron tubule epithelia l cell differentiation	ISS	biological_process
GO:0072593	reactive oxygen species m etabolic process	ISS	biological_process
GO:0090102	cochlea development	ISS	biological_process
GO:0090103	cochlea morphogenesis	ISS	biological_process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	ISS	biological_process
GO:1900212	negative regulation of me senchymal cell apoptotic process involved in metan ephros development	ISS	biological_process
GO:1900215	negative regulation of ap optotic process involved in metanephric collecting duct development	ISS	biological_process
GO:1900218	negative regulation of ap optotic process involved in metanephric nephron tu bule development	ISS	biological_process
GO:2000378	negative regulation of re active oxygen species met abolic process	IDA	biological_process
GO:2000594	positive regulation of me tanephric DCT cell differ entiation	ISS	biological_process
GO:2000597	positive regulation of op tic nerve formation	ISS	biological_process
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001655	urogenital system develop ment	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IEP	biological_process
GO:0001709	cell fate determination	ISS	biological_process
GO:0001823	mesonephros development	ISS	biological_process
GO:0001843	neural tube closure	ISS	biological_process
GO:0002072	optic cup morphogenesis i nvolved in camera-type ey e development	ISS	biological_process
GO:0003337	mesenchymal to epithelial transition involved in m etanephros morphogenesis	ISS	biological_process
GO:0003406	retinal pigment epitheliu m development	ISS	biological_process
GO:0003677	DNA binding	ISS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005815	microtubule organizing ce nter	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	ISS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0007409	axonogenesis	TAS	biological_process
GO:0007501	mesodermal cell fate spec ification	ISS	biological_process
GO:0007601	visual perception	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010001	glial cell differentiatio n	ISS	biological_process
GO:0016175	superoxide-generating NAD PH oxidase activity	ISS	molecular_function
GO:0021554	optic nerve development	ISS	biological_process
GO:0021631	optic nerve morphogenesis	ISS	biological_process
GO:0021633	optic nerve structural or ganization	ISS	biological_process
GO:0021650	vestibulocochlear nerve f ormation	ISS	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0034451	centriolar satellite	IDA	cellular_component
GO:0035566	regulation of metanephros size	IMP	biological_process
GO:0035799	ureter maturation	ISS	biological_process
GO:0039003	pronephric field specific ation	ISS	biological_process
GO:0042472	inner ear morphogenesis	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0043069	negative regulation of pr ogrammed cell death	ISS	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043154	negative regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043234	protein complex	ISS	cellular_component
GO:0043491	protein kinase B signalin g	ISS	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045918	negative regulation of cy tolysis	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048793	pronephros development	ISS	biological_process
GO:0048854	brain morphogenesis	ISS	biological_process
GO:0048863	stem cell differentiation	ISS	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0060231	mesenchymal to epithelial transition	ISS	biological_process
GO:0061360	optic chiasma development	ISS	biological_process
GO:0070301	cellular response to hydr ogen peroxide	ISS	biological_process
GO:0071300	cellular response to reti noic acid	ISS	biological_process
GO:0071333	cellular response to gluc ose stimulus	ISS	biological_process
GO:0072075	metanephric mesenchyme de velopment	ISS	biological_process
GO:0072108	positive regulation of me senchymal to epithelial t ransition involved in met anephros morphogenesis	ISS	biological_process
GO:0072162	metanephric mesenchymal c ell differentiation	ISS	biological_process
GO:0072179	nephric duct formation	ISS	biological_process
GO:0072189	ureter development	ISS	biological_process
GO:0072205	metanephric collecting du ct development	ISS	biological_process
GO:0072207	metanephric epithelium de velopment	IEP	biological_process
GO:0072221	metanephric distal convol uted tubule development	ISS	biological_process
GO:0072289	metanephric nephron tubul e formation	ISS	biological_process
GO:0072300	positive regulation of me tanephric glomerulus deve lopment	ISS	biological_process
GO:0072305	negative regulation of me senchymal cell apoptotic process involved in metan ephric nephron morphogene sis	ISS	biological_process
GO:0072307	regulation of metanephric nephron tubule epithelia l cell differentiation	ISS	biological_process
GO:0072593	reactive oxygen species m etabolic process	ISS	biological_process
GO:0090102	cochlea development	ISS	biological_process
GO:0090103	cochlea morphogenesis	ISS	biological_process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	ISS	biological_process
GO:1900212	negative regulation of me senchymal cell apoptotic process involved in metan ephros development	ISS	biological_process
GO:1900215	negative regulation of ap optotic process involved in metanephric collecting duct development	ISS	biological_process
GO:1900218	negative regulation of ap optotic process involved in metanephric nephron tu bule development	ISS	biological_process
GO:2000378	negative regulation of re active oxygen species met abolic process	IDA	biological_process
GO:2000594	positive regulation of me tanephric DCT cell differ entiation	ISS	biological_process
GO:2000597	positive regulation of op tic nerve formation	ISS	biological_process

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 16385451
Endometrial cancer	PMID: 22317873
Endometriosis	PMID: 22473392
Glomerulosclerosis	OMIM: 167409
Henoch-Schonlein purpura	PMID: 16509931
Endometriosis	INFBASE22473392
Papillorenal syndrome	OMIM: 167409
Renal coloboma syndrome	KEGG: H01026

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22473392	Endometrio sis			Eutopic and ect opic endometria of 14 patients and in the end ometrium from w omen without en dometriosis		Pax2	Show abstract