PAX2_HUMAN
ID PAX2_HUMAN Reviewed; 417 AA.
AC Q02962; Q15105; Q15110; Q15837; Q5SZP2; Q5SZP3;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 4.
DT 03-AUG-2022, entry version 220.
DE RecName: Full=Paired box protein Pax-2;
GN Name=PAX2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Kidney;
RX PubMed=1378753;
RA Eccles M.R., Wallis L.J., Fidler A.E., Spurr N.K., Goodfellow P.J.,
RA Reeve A.E.;
RT "Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.";
RL Cell Growth Differ. 3:279-289(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
RC TISSUE=Kidney cortex;
RX PubMed=7819127;
RA Ward T.A., Nebel A., Reeve A.E., Eccles M.R.;
RT "Alternative messenger RNA forms and open reading frames within an
RT additional conserved region of the human PAX-2 gene.";
RL Cell Growth Differ. 5:1015-1021(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING (ISOFORM 1).
RX PubMed=8661132; DOI=10.1006/geno.1996.0350;
RA Sanyanusin P., Norrish J.H., Ward T.A., Nebel A., McNoe L.A., Eccles M.R.;
RT "Genomic structure of the human PAX2 gene.";
RL Genomics 35:258-261(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-136.
RX PubMed=7981748; DOI=10.1038/ng0493-292;
RA Stapleton P., Weith A., Urbanek P., Kozmik Z., Busslinger M.;
RT "Chromosomal localization of seven PAX genes and cloning of a novel family
RT member, PAX-9.";
RL Nat. Genet. 3:292-298(1993).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-226, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [8]
RP INTERACTION WITH EGLN3.
RX PubMed=21575608; DOI=10.1016/j.bbrc.2011.05.012;
RA Yan B., Jiao S., Zhang H.S., Lv D.D., Xue J., Fan L., Wu G.H., Fang J.;
RT "Prolyl hydroxylase domain protein 3 targets Pax2 for destruction.";
RL Biochem. Biophys. Res. Commun. 409:315-320(2011).
RN [9]
RP INVOLVEMENT IN RENAL HYPODYSPLASIA, AND VARIANT GLU-24.
RX PubMed=21380624; DOI=10.1007/s00467-011-1826-9;
RA Thomas R., Sanna-Cherchi S., Warady B.A., Furth S.L., Kaskel F.J.,
RA Gharavi A.G.;
RT "HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the
RT CKiD cohort.";
RL Pediatr. Nephrol. 26:897-903(2011).
RN [10]
RP VARIANTS PAPRS GLU-THR-75 INS AND SER-76.
RX PubMed=9760197; DOI=10.1007/s004390050798;
RA Devriendt K., Matthijs G., van Damme B., van Caesbroeck D., Eccles M.R.,
RA Vanrenterghem Y., Fryns J.-P., Leys A.;
RT "Missense mutation and hexanucleotide duplication in the PAX2 gene in two
RT unrelated families with renal-coloboma syndrome (MIM 120330).";
RL Hum. Genet. 103:149-153(1998).
RN [11]
RP VARIANT VAL-334.
RX PubMed=11180607;
RX DOI=10.1002/1098-1004(200102)17:2<155::aid-humu16>3.0.co;2-9;
RA Gelb A.C., Manligas G.S., Gharaybeh S., Schimmenti L.A.;
RT "Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the
RT PAX2 gene.";
RL Hum. Mutat. 17:155-155(2001).
RN [12]
RP VARIANT PAPRS 39-GLN-ARG-40 DEL.
RX PubMed=11168927; DOI=10.1046/j.1523-1755.2001.059002457.x;
RA Salomon R., Tellier A.-L., Attie-Bitach T., Amiel J., Vekemans M.,
RA Lyonnet S., Dureau P., Niaudet P., Gubler M.-C., Broyer M.;
RT "PAX2 mutations in oligomeganephronia.";
RL Kidney Int. 59:457-462(2001).
RN [13]
RP VARIANT PAPRS THR-71.
RX PubMed=15652857; DOI=10.1016/j.ajo.2004.07.021;
RA Higashide T., Wada T., Sakurai M., Yokoyama H., Sugiyama K.;
RT "Macular abnormalities and optic disk anomaly associated with a new PAX2
RT missense mutation.";
RL Am. J. Ophthalmol. 139:203-205(2005).
RN [14]
RP VARIANT PAPRS HIS-130.
RX PubMed=19954729; DOI=10.5414/cnp72497;
RA Miyazawa T., Nakano M., Takemura Y., Miyazaki K., Yanagida H., Fujita S.,
RA Sugimoto K., Okada M., Takemura T.;
RT "A case of renal-coloboma syndrome associated with mental developmental
RT delay exhibiting a novel PAX2 gene mutation.";
RL Clin. Nephrol. 72:497-500(2009).
RN [15]
RP VARIANTS PAPRS VAL-25; ARG-33; ILE-61; ASN-61; 62-HIS--SER-66 DEL; PRO-69;
RP THR-75 INS; SER-84; SER-ILE-LYS-PRO-GLY-VAL-ILE-GLY-84 INS; PRO-117 AND
RP SER-130, AND VARIANTS THR-160; ASN-164; THR-175; VAL-334 AND ASN-387.
RX PubMed=22213154; DOI=10.1002/humu.22020;
RA Bower M., Salomon R., Allanson J., Antignac C., Benedicenti F., Benetti E.,
RA Binenbaum G., Jensen U.B., Cochat P., DeCramer S., Dixon J., Drouin R.,
RA Falk M.J., Feret H., Gise R., Hunter A., Johnson K., Kumar R.,
RA Lavocat M.P., Martin L., Moriniere V., Mowat D., Murer L., Nguyen H.T.,
RA Peretz-Amit G., Pierce E., Place E., Rodig N., Salerno A., Sastry S.,
RA Sato T., Sayer J.A., Schaafsma G.C., Shoemaker L., Stockton D.W., Tan W.H.,
RA Tenconi R., Vanhille P., Vats A., Wang X., Warman B., Weleber R.G.,
RA White S.M., Wilson-Brackett C., Zand D.J., Eccles M., Schimmenti L.A.,
RA Heidet L.;
RT "Update of PAX2 mutations in renal coloboma syndrome and establishment of a
RT locus-specific database.";
RL Hum. Mutat. 33:457-466(2012).
RN [16]
RP INVOLVEMENT IN FSGS7, VARIANTS FSGS7 GLN-56; LEU-80; PHE-133; ALA-150;
RP ASN-164 AND ARG-189, CHARACTERIZATION OF VARIANTS FSGS7 GLN-56; LEU-80;
RP PHE-133 AND ARG-189, VARIANTS PAPRS GLY-2; VAL-139; VAL-295; PRO-296;
RP SER-298 AND ALA-329, INTERACTION WITH TLE4, AND FUNCTION.
RX PubMed=24676634; DOI=10.1681/asn.2013070686;
RA Barua M., Stellacci E., Stella L., Weins A., Genovese G., Muto V.,
RA Caputo V., Toka H.R., Charoonratana V.T., Tartaglia M., Pollak M.R.;
RT "Mutations in PAX2 associate with adult-onset FSGS.";
RL J. Am. Soc. Nephrol. 25:1942-1953(2014).
CC -!- FUNCTION: Transcription factor that may have a role in kidney cell
CC differentiation (PubMed:24676634). Has a critical role in the
CC development of the urogenital tract, the eyes, and the CNS.
CC {ECO:0000269|PubMed:24676634}.
CC -!- SUBUNIT: Interacts with ELGN3; the interaction targets PAX2 for
CC destruction. Interacts with TLE4. {ECO:0000269|PubMed:21575608,
CC ECO:0000269|PubMed:24676634}.
CC -!- INTERACTION:
CC Q02962; O60663-2: LMX1B; NbExp=3; IntAct=EBI-1805765, EBI-10258690;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q02962-1; Sequence=Displayed;
CC Name=2; Synonyms=Fetal kidney;
CC IsoId=Q02962-2; Sequence=VSP_002346;
CC Name=3;
CC IsoId=Q02962-3; Sequence=VSP_002345;
CC Name=4;
CC IsoId=Q02962-4; Sequence=VSP_002345, VSP_002346;
CC -!- TISSUE SPECIFICITY: Expressed in primitive cells of the kidney, ureter,
CC eye, ear and central nervous system.
CC -!- DEVELOPMENTAL STAGE: Mainly in fetal kidney and juvenile nephrogenic
CC rests.
CC -!- DISEASE: Papillorenal syndrome (PAPRS) [MIM:120330]: An autosomal
CC dominant disorder characterized by both ocular and renal anomalies, but
CC may also include vesicoureteral reflux, high frequency hearing loss,
CC central nervous system anomalies, and/or genital anomalies. Eye
CC anomalies in this disorder consist of a wide and sometimes excavated
CC dysplastic optic disk with the emergence of the retinal vessels from
CC the periphery of the disk, designated optic nerve coloboma or 'morning
CC glory' anomaly. Associated findings may include a small corneal
CC diameter, retinal coloboma, scleral staphyloma, optic nerve cyst,
CC microphthalmia, and pigmentary macular dysplasia. The kidneys are small
CC and abnormally formed (renal hypodysplasia), and have fewer than the
CC normal number of glomeruli, which are enlarged (oligomeganephronia).
CC These ocular and renal anomalies result in decreased visual acuity and
CC retinal detachment, as well as hypertension, proteinuria, and renal
CC insufficiency that frequently progresses to end-stage renal disease.
CC {ECO:0000269|PubMed:11168927, ECO:0000269|PubMed:15652857,
CC ECO:0000269|PubMed:19954729, ECO:0000269|PubMed:22213154,
CC ECO:0000269|PubMed:24676634, ECO:0000269|PubMed:9760197}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]: A
CC renal pathology defined by the presence of segmental sclerosis in
CC glomeruli and resulting in proteinuria, reduced glomerular filtration
CC rate and progressive decline in renal function. Renal insufficiency
CC often progresses to end-stage renal disease, a highly morbid state
CC requiring either dialysis therapy or kidney transplantation.
CC {ECO:0000269|PubMed:24676634}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- WEB RESOURCE: Name=PAX2 mutation db;
CC URL="http://www.hgu.mrc.ac.uk/Softdata/PAX2/";
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/PAX2ID41642ch10q24.html";
CC -!- WEB RESOURCE: Name=PAX2 variant database paired box 2 (PAX2);
CC Note=Leiden Open Variation Database (LOVD);
CC URL="https://databases.lovd.nl/shared/genes/PAX2";
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DR EMBL; M89470; AAA60024.1; -; mRNA.
DR EMBL; L25597; AAA36417.1; -; mRNA.
DR EMBL; U45255; AAC63385.1; -; Genomic_DNA.
DR EMBL; U45245; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45246; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45247; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45248; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45249; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45250; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45251; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45253; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; U45254; AAC63385.1; JOINED; Genomic_DNA.
DR EMBL; AL138762; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL589862; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49812.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49813.1; -; Genomic_DNA.
DR EMBL; L09747; AAC41711.1; -; Genomic_DNA.
DR EMBL; L09748; AAC41711.1; JOINED; Genomic_DNA.
DR EMBL; L09746; AAC41711.1; JOINED; Genomic_DNA.
DR CCDS; CCDS41561.1; -. [Q02962-3]
DR CCDS; CCDS7499.1; -. [Q02962-4]
DR PIR; A49008; A49008.
DR RefSeq; NP_000269.3; NM_000278.4. [Q02962-3]
DR RefSeq; NP_001291498.1; NM_001304569.1.
DR RefSeq; NP_003978.3; NM_003987.4. [Q02962-1]
DR RefSeq; NP_003979.2; NM_003988.4. [Q02962-4]
DR RefSeq; NP_003980.3; NM_003989.4.
DR RefSeq; NP_003981.3; NM_003990.4.
DR AlphaFoldDB; Q02962; -.
DR SMR; Q02962; -.
DR BioGRID; 111110; 80.
DR IntAct; Q02962; 70.
DR MINT; Q02962; -.
DR STRING; 9606.ENSP00000359319; -.
DR iPTMnet; Q02962; -.
DR PhosphoSitePlus; Q02962; -.
DR BioMuta; PAX2; -.
DR DMDM; 223590261; -.
DR MassIVE; Q02962; -.
DR MaxQB; Q02962; -.
DR PaxDb; Q02962; -.
DR PeptideAtlas; Q02962; -.
DR PRIDE; Q02962; -.
DR ProteomicsDB; 58144; -. [Q02962-1]
DR ProteomicsDB; 58145; -. [Q02962-2]
DR ProteomicsDB; 58146; -. [Q02962-3]
DR ProteomicsDB; 58147; -. [Q02962-4]
DR Antibodypedia; 31200; 492 antibodies from 42 providers.
DR DNASU; 5076; -.
DR Ensembl; ENST00000355243.8; ENSP00000347385.3; ENSG00000075891.23. [Q02962-3]
DR Ensembl; ENST00000370296.6; ENSP00000359319.3; ENSG00000075891.23. [Q02962-4]
DR Ensembl; ENST00000428433.5; ENSP00000396259.1; ENSG00000075891.23. [Q02962-1]
DR GeneID; 5076; -.
DR KEGG; hsa:5076; -.
DR MANE-Select; ENST00000355243.8; ENSP00000347385.3; NM_000278.5; NP_000269.3. [Q02962-3]
DR UCSC; uc001krl.4; human. [Q02962-1]
DR CTD; 5076; -.
DR DisGeNET; 5076; -.
DR GeneCards; PAX2; -.
DR GeneReviews; PAX2; -.
DR HGNC; HGNC:8616; PAX2.
DR HPA; ENSG00000075891; Group enriched (epididymis, kidney).
DR MalaCards; PAX2; -.
DR MIM; 120330; phenotype.
DR MIM; 167409; gene.
DR MIM; 616002; phenotype.
DR neXtProt; NX_Q02962; -.
DR OpenTargets; ENSG00000075891; -.
DR Orphanet; 656; Genetic steroid-resistant nephrotic syndrome.
DR Orphanet; 1475; Renal coloboma syndrome.
DR Orphanet; 97362; Renal hypoplasia, bilateral.
DR PharmGKB; PA32956; -.
DR VEuPathDB; HostDB:ENSG00000075891; -.
DR eggNOG; KOG3862; Eukaryota.
DR GeneTree; ENSGT00940000157412; -.
DR InParanoid; Q02962; -.
DR OMA; SINGXEV; -.
DR OrthoDB; 592933at2759; -.
DR PhylomeDB; Q02962; -.
DR TreeFam; TF315397; -.
DR PathwayCommons; Q02962; -.
DR SignaLink; Q02962; -.
DR SIGNOR; Q02962; -.
DR BioGRID-ORCS; 5076; 10 hits in 1091 CRISPR screens.
DR ChiTaRS; PAX2; human.
DR GeneWiki; PAX2; -.
DR GenomeRNAi; 5076; -.
DR Pharos; Q02962; Tbio.
DR PRO; PR:Q02962; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q02962; protein.
DR Bgee; ENSG00000075891; Expressed in metanephros cortex and 60 other tissues.
DR ExpressionAtlas; Q02962; baseline and differential.
DR Genevisible; Q02962; HS.
DR GO; GO:0034451; C:centriolar satellite; IDA:BHF-UCL.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005764; C:lysosome; IEA:Ensembl.
DR GO; GO:0005815; C:microtubule organizing center; IDA:BHF-UCL.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; ISS:UniProtKB.
DR GO; GO:0032993; C:protein-DNA complex; ISS:UniProtKB.
DR GO; GO:0000987; F:cis-regulatory region sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IMP:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:UniProtKB.
DR GO; GO:0008134; F:transcription factor binding; IPI:UniProtKB.
DR GO; GO:0007568; P:aging; IEA:Ensembl.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0007409; P:axonogenesis; TAS:ProtInc.
DR GO; GO:0048854; P:brain morphogenesis; ISS:UniProtKB.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEP:UniProtKB.
DR GO; GO:0043010; P:camera-type eye development; ISS:UniProtKB.
DR GO; GO:0001709; P:cell fate determination; ISS:UniProtKB.
DR GO; GO:0071364; P:cellular response to epidermal growth factor stimulus; IEA:Ensembl.
DR GO; GO:0071333; P:cellular response to glucose stimulus; ISS:UniProtKB.
DR GO; GO:0070301; P:cellular response to hydrogen peroxide; ISS:UniProtKB.
DR GO; GO:0071300; P:cellular response to retinoic acid; ISS:UniProtKB.
DR GO; GO:0090102; P:cochlea development; ISS:UniProtKB.
DR GO; GO:0090103; P:cochlea morphogenesis; ISS:UniProtKB.
DR GO; GO:0010001; P:glial cell differentiation; ISS:UniProtKB.
DR GO; GO:0042472; P:inner ear morphogenesis; ISS:UniProtKB.
DR GO; GO:0060231; P:mesenchymal to epithelial transition; ISS:UniProtKB.
DR GO; GO:0003337; P:mesenchymal to epithelial transition involved in metanephros morphogenesis; ISS:UniProtKB.
DR GO; GO:0007501; P:mesodermal cell fate specification; ISS:UniProtKB.
DR GO; GO:0001823; P:mesonephros development; ISS:UniProtKB.
DR GO; GO:0072205; P:metanephric collecting duct development; ISS:UniProtKB.
DR GO; GO:0072221; P:metanephric distal convoluted tubule development; ISS:UniProtKB.
DR GO; GO:0072207; P:metanephric epithelium development; IEP:UniProtKB.
DR GO; GO:0072162; P:metanephric mesenchymal cell differentiation; ISS:UniProtKB.
DR GO; GO:0072075; P:metanephric mesenchyme development; ISS:UniProtKB.
DR GO; GO:0072289; P:metanephric nephron tubule formation; ISS:UniProtKB.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IDA:UniProtKB.
DR GO; GO:1900215; P:negative regulation of apoptotic process involved in metanephric collecting duct development; ISS:UniProtKB.
DR GO; GO:1900218; P:negative regulation of apoptotic process involved in metanephric nephron tubule development; ISS:UniProtKB.
DR GO; GO:0043154; P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB.
DR GO; GO:0072305; P:negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; ISS:UniProtKB.
DR GO; GO:1900212; P:negative regulation of mesenchymal cell apoptotic process involved in metanephros development; ISS:UniProtKB.
DR GO; GO:0043069; P:negative regulation of programmed cell death; ISS:UniProtKB.
DR GO; GO:2000378; P:negative regulation of reactive oxygen species metabolic process; IDA:UniProtKB.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IMP:UniProtKB.
DR GO; GO:0072179; P:nephric duct formation; ISS:UniProtKB.
DR GO; GO:0001843; P:neural tube closure; ISS:UniProtKB.
DR GO; GO:0061360; P:optic chiasma development; ISS:UniProtKB.
DR GO; GO:0002072; P:optic cup morphogenesis involved in camera-type eye development; ISS:UniProtKB.
DR GO; GO:0021554; P:optic nerve development; ISS:UniProtKB.
DR GO; GO:0021631; P:optic nerve morphogenesis; ISS:UniProtKB.
DR GO; GO:0021633; P:optic nerve structural organization; ISS:UniProtKB.
DR GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IDA:UniProtKB.
DR GO; GO:0072108; P:positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; ISS:UniProtKB.
DR GO; GO:2000594; P:positive regulation of metanephric DCT cell differentiation; ISS:UniProtKB.
DR GO; GO:0072300; P:positive regulation of metanephric glomerulus development; ISS:UniProtKB.
DR GO; GO:2000597; P:positive regulation of optic nerve formation; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0039003; P:pronephric field specification; ISS:UniProtKB.
DR GO; GO:0048793; P:pronephros development; ISS:UniProtKB.
DR GO; GO:0043491; P:protein kinase B signaling; ISS:UniProtKB.
DR GO; GO:0072593; P:reactive oxygen species metabolic process; ISS:UniProtKB.
DR GO; GO:0072307; P:regulation of metanephric nephron tubule epithelial cell differentiation; ISS:UniProtKB.
DR GO; GO:0035566; P:regulation of metanephros size; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0031667; P:response to nutrient levels; IEA:Ensembl.
DR GO; GO:0003406; P:retinal pigment epithelium development; ISS:UniProtKB.
DR GO; GO:0048863; P:stem cell differentiation; ISS:UniProtKB.
DR GO; GO:0072189; P:ureter development; ISS:UniProtKB.
DR GO; GO:0035799; P:ureter maturation; ISS:UniProtKB.
DR GO; GO:0001655; P:urogenital system development; ISS:UniProtKB.
DR GO; GO:0021650; P:vestibulocochlear nerve formation; ISS:UniProtKB.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR CDD; cd00131; PAX; 1.
DR Gene3D; 1.10.10.10; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR022130; Pax2_C.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR Pfam; PF00292; PAX; 1.
DR Pfam; PF12403; Pax2_C; 1.
DR PRINTS; PR00027; PAIREDBOX.
DR SMART; SM00351; PAX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Differentiation;
KW Disease variant; DNA-binding; Nucleus; Paired box; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..417
FT /note="Paired box protein Pax-2"
FT /id="PRO_0000050175"
FT DNA_BIND 16..142
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 19..75
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 94..142
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 304..325
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 226
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT VAR_SEQ 206..228
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:1378753,
FT ECO:0000303|PubMed:7819127"
FT /id="VSP_002345"
FT VAR_SEQ 364..417
FT /note="GSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYD
FT RH -> EAAVGPSSSLMSKPGRKLAEVPPCVQPTGASSPATRTATPSTRPTTRLGDSAT
FT PPY (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:7819127"
FT /id="VSP_002346"
FT VARIANT 2
FT /note="D -> G (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071937"
FT VARIANT 24
FT /note="G -> E (probable disease-associated variant found in
FT a patient with non-syndromic renal hypodysplasia;
FT dbSNP:rs201239919)"
FT /evidence="ECO:0000269|PubMed:21380624"
FT /id="VAR_068079"
FT VARIANT 25
FT /note="G -> V (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068080"
FT VARIANT 33
FT /note="L -> R (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068081"
FT VARIANT 39..40
FT /note="Missing (in PAPRS; the patient manifests
FT oligomeganephronia and bilateral optic nerve coloboma)"
FT /evidence="ECO:0000269|PubMed:11168927"
FT /id="VAR_012442"
FT VARIANT 56
FT /note="R -> Q (in FSGS7; decreased DNA-binding capability
FT and transactivation ability; dbSNP:rs587777708)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071938"
FT VARIANT 61
FT /note="S -> I (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068082"
FT VARIANT 61
FT /note="S -> N (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068083"
FT VARIANT 62..66
FT /note="Missing (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068084"
FT VARIANT 69
FT /note="L -> P (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068085"
FT VARIANT 71
FT /note="R -> T (in PAPRS; dbSNP:rs104894170)"
FT /evidence="ECO:0000269|PubMed:15652857"
FT /id="VAR_068086"
FT VARIANT 75
FT /note="T -> TET (in PAPRS)"
FT /id="VAR_003788"
FT VARIANT 75
FT /note="T -> TT (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068087"
FT VARIANT 76
FT /note="G -> S (in PAPRS; dbSNP:rs79555199)"
FT /evidence="ECO:0000269|PubMed:9760197"
FT /id="VAR_003789"
FT VARIANT 80
FT /note="P -> L (in FSGS7; decreased DNA-binding capability
FT and transactivation ability; dbSNP:rs1554856032)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071939"
FT VARIANT 84
FT /note="G -> GSIKPGVIG (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068088"
FT VARIANT 84
FT /note="G -> S (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068089"
FT VARIANT 117
FT /note="R -> P (in PAPRS; dbSNP:rs773306707)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068090"
FT VARIANT 130
FT /note="P -> H (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:19954729"
FT /id="VAR_068091"
FT VARIANT 130
FT /note="P -> S (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068092"
FT VARIANT 133
FT /note="S -> F (in FSGS7; decreased DNA-binding capability
FT and transactivation ability)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071940"
FT VARIANT 139
FT /note="I -> V (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071941"
FT VARIANT 150
FT /note="T -> A (in FSGS7; dbSNP:rs1201078720)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071942"
FT VARIANT 160
FT /note="A -> T (in dbSNP:rs201383632)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068093"
FT VARIANT 164
FT /note="T -> N (in FSGS7; dbSNP:rs370214925)"
FT /evidence="ECO:0000269|PubMed:22213154,
FT ECO:0000269|PubMed:24676634"
FT /id="VAR_068094"
FT VARIANT 175
FT /note="S -> T"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068095"
FT VARIANT 189
FT /note="G -> R (in FSGS7; transactivation activity is
FT dramatically decreased in presence of TLE4; dramatically
FT enhances interaction with TLE4; dbSNP:rs1131692055)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071943"
FT VARIANT 295
FT /note="A -> V (in PAPRS; dbSNP:rs1403345811)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071944"
FT VARIANT 296
FT /note="L -> P (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071945"
FT VARIANT 298
FT /note="P -> S (in PAPRS; dbSNP:rs893370744)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071946"
FT VARIANT 329
FT /note="T -> A (in PAPRS)"
FT /evidence="ECO:0000269|PubMed:24676634"
FT /id="VAR_071947"
FT VARIANT 334
FT /note="A -> V (in dbSNP:rs78738655)"
FT /evidence="ECO:0000269|PubMed:11180607,
FT ECO:0000269|PubMed:22213154"
FT /id="VAR_012443"
FT VARIANT 387
FT /note="S -> N (found in a patient with bilateral optic
FT nerve colobomas; uncertain pathological significance;
FT dbSNP:rs138490772)"
FT /evidence="ECO:0000269|PubMed:22213154"
FT /id="VAR_068096"
FT CONFLICT 15..16
FT /note="PG -> R (in Ref. 6; AAC41711)"
FT /evidence="ECO:0000305"
FT CONFLICT 404
FT /note="Missing (in Ref. 1; AAA60024 and 3; AAC63385)"
FT /evidence="ECO:0000305"
FT CONFLICT 410
FT /note="A -> R (in Ref. 1; AAA60024 and 3; AAC63385)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 417 AA; 44706 MW; 7EA24F9EB8C843F8 CRC64;
MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV
SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA
EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND
PVGSYSINGI LGIPRSNGEK RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS
QSGVDSLRKH LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL
DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ GSYPTSTLAG
MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLSSPYYYSA APRGSAPAAA AAAYDRH
