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Paired box protein Pax-2

 PAX2_HUMAN              Reviewed;         417 AA.
Q02962; Q15105; Q15110; Q15837; Q5SZP2; Q5SZP3;
01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
10-FEB-2009, sequence version 4.
22-NOV-2017, entry version 186.
RecName: Full=Paired box protein Pax-2;
Name=PAX2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Kidney;
PubMed=1378753;
Eccles M.R., Wallis L.J., Fidler A.E., Spurr N.K., Goodfellow P.J.,
Reeve A.E.;
"Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.";
Cell Growth Differ. 3:279-289(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
TISSUE=Kidney cortex;
PubMed=7819127;
Ward T.A., Nebel A., Reeve A.E., Eccles M.R.;
"Alternative messenger RNA forms and open reading frames within an
additional conserved region of the human PAX-2 gene.";
Cell Growth Differ. 5:1015-1021(1994).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING (ISOFORM
1).
PubMed=8661132; DOI=10.1006/geno.1996.0350;
Sanyanusin P., Norrish J.H., Ward T.A., Nebel A., McNoe L.A.,
Eccles M.R.;
"Genomic structure of the human PAX2 gene.";
Genomics 35:258-261(1996).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-136.
PubMed=7981748; DOI=10.1038/ng0493-292;
Stapleton P., Weith A., Urbanek P., Kozmik Z., Busslinger M.;
"Chromosomal localization of seven PAX genes and cloning of a novel
family member, PAX-9.";
Nat. Genet. 3:292-298(1993).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-226, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[8]
INTERACTION WITH EGLN3.
PubMed=21575608; DOI=10.1016/j.bbrc.2011.05.012;
Yan B., Jiao S., Zhang H.S., Lv D.D., Xue J., Fan L., Wu G.H.,
Fang J.;
"Prolyl hydroxylase domain protein 3 targets Pax2 for destruction.";
Biochem. Biophys. Res. Commun. 409:315-320(2011).
[9]
INVOLVEMENT IN RENAL HYPODYSPLASIA, AND VARIANT GLU-24.
PubMed=21380624; DOI=10.1007/s00467-011-1826-9;
Thomas R., Sanna-Cherchi S., Warady B.A., Furth S.L., Kaskel F.J.,
Gharavi A.G.;
"HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in
the CKiD cohort.";
Pediatr. Nephrol. 26:897-903(2011).
[10]
VARIANTS PAPRS GLU-THR-75 INS AND SER-76.
PubMed=9760197; DOI=10.1007/s004390050798;
Devriendt K., Matthijs G., van Damme B., van Caesbroeck D.,
Eccles M.R., Vanrenterghem Y., Fryns J.-P., Leys A.;
"Missense mutation and hexanucleotide duplication in the PAX2 gene in
two unrelated families with renal-coloboma syndrome (MIM 120330).";
Hum. Genet. 103:149-153(1998).
[11]
VARIANT VAL-334.
PubMed=11180607;
DOI=10.1002/1098-1004(200102)17:2<155::AID-HUMU16>3.0.CO;2-9;
Gelb A.C., Manligas G.S., Gharaybeh S., Schimmenti L.A.;
"Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in
the PAX2 gene.";
Hum. Mutat. 17:155-155(2001).
[12]
VARIANT PAPRS 39-GLN-ARG-40 DEL.
PubMed=11168927; DOI=10.1046/j.1523-1755.2001.059002457.x;
Salomon R., Tellier A.-L., Attie-Bitach T., Amiel J., Vekemans M.,
Lyonnet S., Dureau P., Niaudet P., Gubler M.-C., Broyer M.;
"PAX2 mutations in oligomeganephronia.";
Kidney Int. 59:457-462(2001).
[13]
VARIANT PAPRS THR-71.
PubMed=15652857; DOI=10.1016/j.ajo.2004.07.021;
Higashide T., Wada T., Sakurai M., Yokoyama H., Sugiyama K.;
"Macular abnormalities and optic disk anomaly associated with a new
PAX2 missense mutation.";
Am. J. Ophthalmol. 139:203-205(2005).
[14]
VARIANT PAPRS HIS-130.
PubMed=19954729;
Miyazawa T., Nakano M., Takemura Y., Miyazaki K., Yanagida H.,
Fujita S., Sugimoto K., Okada M., Takemura T.;
"A case of renal-coloboma syndrome associated with mental
developmental delay exhibiting a novel PAX2 gene mutation.";
Clin. Nephrol. 72:497-500(2009).
[15]
VARIANTS PAPRS VAL-25; ARG-33; ILE-61; ASN-61; 62-HIS--SER-66 DEL;
PRO-69; THR-75 INS; SER-84; SER-ILE-LYS-PRO-GLY-VAL-ILE-GLY-84 INS;
PRO-117 AND SER-130, AND VARIANTS THR-160; ASN-164; THR-175; VAL-334
AND ASN-387.
PubMed=22213154; DOI=10.1002/humu.22020;
Bower M., Salomon R., Allanson J., Antignac C., Benedicenti F.,
Benetti E., Binenbaum G., Jensen U.B., Cochat P., DeCramer S.,
Dixon J., Drouin R., Falk M.J., Feret H., Gise R., Hunter A.,
Johnson K., Kumar R., Lavocat M.P., Martin L., Moriniere V., Mowat D.,
Murer L., Nguyen H.T., Peretz-Amit G., Pierce E., Place E., Rodig N.,
Salerno A., Sastry S., Sato T., Sayer J.A., Schaafsma G.C.,
Shoemaker L., Stockton D.W., Tan W.H., Tenconi R., Vanhille P.,
Vats A., Wang X., Warman B., Weleber R.G., White S.M.,
Wilson-Brackett C., Zand D.J., Eccles M., Schimmenti L.A., Heidet L.;
"Update of PAX2 mutations in renal coloboma syndrome and establishment
of a locus-specific database.";
Hum. Mutat. 33:457-466(2012).
[16]
INVOLVEMENT IN FSGS7, VARIANTS FSGS7 GLN-56; LEU-80; PHE-133; ALA-150;
ASN-164 AND ARG-189, CHARACTERIZATION OF VARIANTS FSGS7 GLN-56;
LEU-80; PHE-133 AND ARG-189, VARIANTS PAPRS GLY-2; VAL-139; VAL-295;
PRO-296; SER-298 AND ALA-329, INTERACTION WITH TLE4, AND FUNCTION.
PubMed=24676634; DOI=10.1681/ASN.2013070686;
Barua M., Stellacci E., Stella L., Weins A., Genovese G., Muto V.,
Caputo V., Toka H.R., Charoonratana V.T., Tartaglia M., Pollak M.R.;
"Mutations in PAX2 associate with adult-onset FSGS.";
J. Am. Soc. Nephrol. 25:1942-1953(2014).
-!- FUNCTION: Transcription factor that may have a role in kidney cell
differentiation (PubMed:24676634). Has a critical role in the
development of the urogenital tract, the eyes, and the CNS.
{ECO:0000269|PubMed:24676634}.
-!- SUBUNIT: Interacts with ELGN3; the interaction targets PAX2 for
destruction. Interacts with TLE4. {ECO:0000269|PubMed:21575608,
ECO:0000269|PubMed:24676634}.
-!- INTERACTION:
O60663-2:LMX1B; NbExp=3; IntAct=EBI-1805765, EBI-10258690;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=Q02962-1; Sequence=Displayed;
Name=2; Synonyms=Fetal kidney;
IsoId=Q02962-2; Sequence=VSP_002346;
Name=3;
IsoId=Q02962-3; Sequence=VSP_002345;
Name=4;
IsoId=Q02962-4; Sequence=VSP_002345, VSP_002346;
-!- TISSUE SPECIFICITY: Expressed in primitive cells of the kidney,
ureter, eye, ear and central nervous system.
-!- DEVELOPMENTAL STAGE: Mainly in fetal kidney and juvenile
nephrogenic rests.
-!- DISEASE: Papillorenal syndrome (PAPRS) [MIM:120330]: An autosomal
dominant disorder characterized by both ocular and renal
anomalies, but may also include vesicoureteral reflux, high
frequency hearing loss, central nervous system anomalies, and/or
genital anomalies. Eye anomalies in this disorder consist of a
wide and sometimes excavated dysplastic optic disk with the
emergence of the retinal vessels from the periphery of the disk,
designated optic nerve coloboma or 'morning glory' anomaly.
Associated findings may include a small corneal diameter, retinal
coloboma, scleral staphyloma, optic nerve cyst, microphthalmia,
and pigmentary macular dysplasia. The kidneys are small and
abnormally formed (renal hypodysplasia), and have fewer than the
normal number of glomeruli, which are enlarged
(oligomeganephronia). These ocular and renal anomalies result in
decreased visual acuity and retinal detachment, as well as
hypertension, proteinuria, and renal insufficiency that frequently
progresses to end-stage renal disease.
{ECO:0000269|PubMed:11168927, ECO:0000269|PubMed:15652857,
ECO:0000269|PubMed:19954729, ECO:0000269|PubMed:22213154,
ECO:0000269|PubMed:24676634, ECO:0000269|PubMed:9760197}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Focal segmental glomerulosclerosis 7 (FSGS7)
[MIM:616002]: A renal pathology defined by the presence of
segmental sclerosis in glomeruli and resulting in proteinuria,
reduced glomerular filtration rate and progressive decline in
renal function. Renal insufficiency often progresses to end-stage
renal disease, a highly morbid state requiring either dialysis
therapy or kidney transplantation. {ECO:0000269|PubMed:24676634}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- WEB RESOURCE: Name=PAX2 mutation db;
URL="http://www.hgu.mrc.ac.uk/Softdata/PAX2/";
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PAX2ID41642ch10q24.html";
-!- WEB RESOURCE: Name=PAX2 variant database paired box 2 (PAX2);
Note=Leiden Open Variation Database (LOVD);
URL="http://grenada.lumc.nl/LOVD2/PAX2/home.php?select_db=PAX2";
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EMBL; M89470; AAA60024.1; -; mRNA.
EMBL; L25597; AAA36417.1; -; mRNA.
EMBL; U45255; AAC63385.1; -; Genomic_DNA.
EMBL; U45245; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45246; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45247; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45248; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45249; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45250; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45251; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45253; AAC63385.1; JOINED; Genomic_DNA.
EMBL; U45254; AAC63385.1; JOINED; Genomic_DNA.
EMBL; AL138762; CAH70951.1; -; Genomic_DNA.
EMBL; AL589862; CAH70951.1; JOINED; Genomic_DNA.
EMBL; AL138762; CAH70952.1; -; Genomic_DNA.
EMBL; AL589862; CAH70952.1; JOINED; Genomic_DNA.
EMBL; AL589862; CAI17855.1; -; Genomic_DNA.
EMBL; AL138762; CAI17855.1; JOINED; Genomic_DNA.
EMBL; AL589862; CAI17856.1; -; Genomic_DNA.
EMBL; AL138762; CAI17856.1; JOINED; Genomic_DNA.
EMBL; CH471066; EAW49812.1; -; Genomic_DNA.
EMBL; CH471066; EAW49813.1; -; Genomic_DNA.
EMBL; L09747; AAC41711.1; -; Genomic_DNA.
EMBL; L09748; AAC41711.1; JOINED; Genomic_DNA.
EMBL; L09746; AAC41711.1; JOINED; Genomic_DNA.
CCDS; CCDS41561.1; -. [Q02962-3]
CCDS; CCDS7499.1; -. [Q02962-4]
PIR; A49008; A49008.
RefSeq; NP_000269.3; NM_000278.4. [Q02962-3]
RefSeq; NP_001291498.1; NM_001304569.1.
RefSeq; NP_003978.3; NM_003987.4. [Q02962-1]
RefSeq; NP_003979.2; NM_003988.4. [Q02962-4]
RefSeq; NP_003980.3; NM_003989.4.
RefSeq; NP_003981.3; NM_003990.4.
UniGene; Hs.155644; -.
ProteinModelPortal; Q02962; -.
SMR; Q02962; -.
BioGrid; 111110; 22.
IntAct; Q02962; 18.
STRING; 9606.ENSP00000396259; -.
iPTMnet; Q02962; -.
PhosphoSitePlus; Q02962; -.
BioMuta; PAX2; -.
DMDM; 223590261; -.
MaxQB; Q02962; -.
PaxDb; Q02962; -.
PeptideAtlas; Q02962; -.
PRIDE; Q02962; -.
DNASU; 5076; -.
Ensembl; ENST00000355243; ENSP00000347385; ENSG00000075891. [Q02962-3]
Ensembl; ENST00000370296; ENSP00000359319; ENSG00000075891. [Q02962-4]
Ensembl; ENST00000428433; ENSP00000396259; ENSG00000075891. [Q02962-1]
GeneID; 5076; -.
KEGG; hsa:5076; -.
UCSC; uc001krl.4; human. [Q02962-1]
CTD; 5076; -.
DisGeNET; 5076; -.
EuPathDB; HostDB:ENSG00000075891.21; -.
GeneCards; PAX2; -.
GeneReviews; PAX2; -.
HGNC; HGNC:8616; PAX2.
HPA; CAB013024; -.
HPA; HPA047704; -.
HPA; HPA070751; -.
MalaCards; PAX2; -.
MIM; 120330; phenotype.
MIM; 167409; gene.
MIM; 616002; phenotype.
neXtProt; NX_Q02962; -.
OpenTargets; ENSG00000075891; -.
Orphanet; 97362; Bilateral renal hypoplasia.
Orphanet; 93213; Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
Orphanet; 1475; Renal coloboma syndrome.
PharmGKB; PA32956; -.
eggNOG; KOG3862; Eukaryota.
eggNOG; ENOG410ZT0S; LUCA.
GeneTree; ENSGT00680000099553; -.
HOGENOM; HOG000230938; -.
HOVERGEN; HBG009115; -.
InParanoid; Q02962; -.
KO; K15608; -.
OMA; LMSKPGR; -.
OrthoDB; EOG091G0S4E; -.
PhylomeDB; Q02962; -.
TreeFam; TF315397; -.
SignaLink; Q02962; -.
SIGNOR; Q02962; -.
GeneWiki; PAX2; -.
GenomeRNAi; 5076; -.
PRO; PR:Q02962; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000075891; -.
CleanEx; HS_PAX2; -.
ExpressionAtlas; Q02962; baseline and differential.
Genevisible; Q02962; HS.
GO; GO:0034451; C:centriolar satellite; IDA:BHF-UCL.
GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
GO; GO:0005764; C:lysosome; IEA:Ensembl.
GO; GO:0005815; C:microtubule organizing center; IDA:BHF-UCL.
GO; GO:0005730; C:nucleolus; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0043234; C:protein complex; ISS:UniProtKB.
GO; GO:0032993; C:protein-DNA complex; ISS:UniProtKB.
GO; GO:0000987; F:core promoter proximal region sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0016175; F:superoxide-generating NADPH oxidase activity; ISS:UniProtKB.
GO; GO:0008134; F:transcription factor binding; IPI:UniProtKB.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:UniProtKB.
GO; GO:0007568; P:aging; IEA:Ensembl.
GO; GO:0007409; P:axonogenesis; TAS:ProtInc.
GO; GO:0048854; P:brain morphogenesis; ISS:UniProtKB.
GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEP:UniProtKB.
GO; GO:0043010; P:camera-type eye development; ISS:UniProtKB.
GO; GO:0001709; P:cell fate determination; ISS:UniProtKB.
GO; GO:0071364; P:cellular response to epidermal growth factor stimulus; IEA:Ensembl.
GO; GO:0071333; P:cellular response to glucose stimulus; ISS:UniProtKB.
GO; GO:0070301; P:cellular response to hydrogen peroxide; ISS:UniProtKB.
GO; GO:0071300; P:cellular response to retinoic acid; ISS:UniProtKB.
GO; GO:0090102; P:cochlea development; ISS:UniProtKB.
GO; GO:0090103; P:cochlea morphogenesis; ISS:UniProtKB.
GO; GO:0010001; P:glial cell differentiation; ISS:UniProtKB.
GO; GO:0042472; P:inner ear morphogenesis; ISS:UniProtKB.
GO; GO:0060231; P:mesenchymal to epithelial transition; ISS:UniProtKB.
GO; GO:0003337; P:mesenchymal to epithelial transition involved in metanephros morphogenesis; ISS:UniProtKB.
GO; GO:0007501; P:mesodermal cell fate specification; ISS:UniProtKB.
GO; GO:0001823; P:mesonephros development; ISS:UniProtKB.
GO; GO:0072205; P:metanephric collecting duct development; ISS:UniProtKB.
GO; GO:0072221; P:metanephric distal convoluted tubule development; ISS:UniProtKB.
GO; GO:0072207; P:metanephric epithelium development; IEP:UniProtKB.
GO; GO:0072162; P:metanephric mesenchymal cell differentiation; ISS:UniProtKB.
GO; GO:0072075; P:metanephric mesenchyme development; ISS:UniProtKB.
GO; GO:0072289; P:metanephric nephron tubule formation; ISS:UniProtKB.
GO; GO:0043066; P:negative regulation of apoptotic process; IDA:UniProtKB.
GO; GO:1900215; P:negative regulation of apoptotic process involved in metanephric collecting duct development; ISS:UniProtKB.
GO; GO:1900218; P:negative regulation of apoptotic process involved in metanephric nephron tubule development; ISS:UniProtKB.
GO; GO:0043154; P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB.
GO; GO:0045918; P:negative regulation of cytolysis; IMP:UniProtKB.
GO; GO:0072305; P:negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; ISS:UniProtKB.
GO; GO:1900212; P:negative regulation of mesenchymal cell apoptotic process involved in metanephros development; ISS:UniProtKB.
GO; GO:0043069; P:negative regulation of programmed cell death; ISS:UniProtKB.
GO; GO:2000378; P:negative regulation of reactive oxygen species metabolic process; IDA:UniProtKB.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IMP:UniProtKB.
GO; GO:0072179; P:nephric duct formation; ISS:UniProtKB.
GO; GO:0001843; P:neural tube closure; ISS:UniProtKB.
GO; GO:0061360; P:optic chiasma development; ISS:UniProtKB.
GO; GO:0002072; P:optic cup morphogenesis involved in camera-type eye development; ISS:UniProtKB.
GO; GO:0021554; P:optic nerve development; ISS:UniProtKB.
GO; GO:0021631; P:optic nerve morphogenesis; ISS:UniProtKB.
GO; GO:0021633; P:optic nerve structural organization; ISS:UniProtKB.
GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IDA:UniProtKB.
GO; GO:0072108; P:positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; ISS:UniProtKB.
GO; GO:2000594; P:positive regulation of metanephric DCT cell differentiation; ISS:UniProtKB.
GO; GO:0072300; P:positive regulation of metanephric glomerulus development; ISS:UniProtKB.
GO; GO:2000597; P:positive regulation of optic nerve formation; ISS:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0039003; P:pronephric field specification; ISS:UniProtKB.
GO; GO:0048793; P:pronephros development; ISS:UniProtKB.
GO; GO:0043491; P:protein kinase B signaling; ISS:UniProtKB.
GO; GO:0072593; P:reactive oxygen species metabolic process; ISS:UniProtKB.
GO; GO:0072307; P:regulation of metanephric nephron tubule epithelial cell differentiation; ISS:UniProtKB.
GO; GO:0035566; P:regulation of metanephros size; IMP:UniProtKB.
GO; GO:0031667; P:response to nutrient levels; IEA:Ensembl.
GO; GO:0003406; P:retinal pigment epithelium development; ISS:UniProtKB.
GO; GO:0048863; P:stem cell differentiation; ISS:UniProtKB.
GO; GO:0006366; P:transcription from RNA polymerase II promoter; TAS:ProtInc.
GO; GO:0006351; P:transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0072189; P:ureter development; ISS:UniProtKB.
GO; GO:0035799; P:ureter maturation; ISS:UniProtKB.
GO; GO:0001655; P:urogenital system development; ISS:UniProtKB.
GO; GO:0021650; P:vestibulocochlear nerve formation; ISS:UniProtKB.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR001523; Paired_dom.
InterPro; IPR022130; Pax2_C.
InterPro; IPR036388; WH-like_DNA-bd_sf.
Pfam; PF00292; PAX; 1.
Pfam; PF12403; Pax2_C; 1.
PRINTS; PR00027; PAIREDBOX.
SMART; SM00351; PAX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00034; PAIRED_1; 1.
PROSITE; PS51057; PAIRED_2; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Developmental protein;
Differentiation; Disease mutation; DNA-binding; Nucleus; Paired box;
Phosphoprotein; Polymorphism; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 417 Paired box protein Pax-2.
/FTId=PRO_0000050175.
DOMAIN 16 142 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
MOD_RES 226 226 Phosphothreonine.
{ECO:0000244|PubMed:19690332}.
VAR_SEQ 206 228 Missing (in isoform 3 and isoform 4).
{ECO:0000303|PubMed:1378753,
ECO:0000303|PubMed:7819127}.
/FTId=VSP_002345.
VAR_SEQ 364 417 GSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRG
SAPAAAAAAYDRH -> EAAVGPSSSLMSKPGRKLAEVPPC
VQPTGASSPATRTATPSTRPTTRLGDSATPPY (in
isoform 2 and isoform 4).
{ECO:0000303|PubMed:7819127}.
/FTId=VSP_002346.
VARIANT 2 2 D -> G (in PAPRS).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071937.
VARIANT 24 24 G -> E (probable disease-associated
mutation found in a patient with non-
syndromic renal hypodysplasia;
dbSNP:rs201239919).
{ECO:0000269|PubMed:21380624}.
/FTId=VAR_068079.
VARIANT 25 25 G -> V (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068080.
VARIANT 33 33 L -> R (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068081.
VARIANT 39 40 Missing (in PAPRS; the patient manifests
oligomeganephronia and bilateral optic
nerve coloboma).
{ECO:0000269|PubMed:11168927}.
/FTId=VAR_012442.
VARIANT 56 56 R -> Q (in FSGS7; decreased DNA-binding
capability and transactivation ability;
dbSNP:rs587777708).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071938.
VARIANT 61 61 S -> I (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068082.
VARIANT 61 61 S -> N (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068083.
VARIANT 62 66 Missing (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068084.
VARIANT 69 69 L -> P (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068085.
VARIANT 71 71 R -> T (in PAPRS; dbSNP:rs104894170).
{ECO:0000269|PubMed:15652857}.
/FTId=VAR_068086.
VARIANT 75 75 T -> TET (in PAPRS).
/FTId=VAR_003788.
VARIANT 75 75 T -> TT (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068087.
VARIANT 76 76 G -> S (in PAPRS; dbSNP:rs79555199).
{ECO:0000269|PubMed:9760197}.
/FTId=VAR_003789.
VARIANT 80 80 P -> L (in FSGS7; decreased DNA-binding
capability and transactivation ability).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071939.
VARIANT 84 84 G -> GSIKPGVIG (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068088.
VARIANT 84 84 G -> S (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068089.
VARIANT 117 117 R -> P (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068090.
VARIANT 130 130 P -> H (in PAPRS).
{ECO:0000269|PubMed:19954729}.
/FTId=VAR_068091.
VARIANT 130 130 P -> S (in PAPRS).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068092.
VARIANT 133 133 S -> F (in FSGS7; decreased DNA-binding
capability and transactivation ability).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071940.
VARIANT 139 139 I -> V (in PAPRS).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071941.
VARIANT 150 150 T -> A (in FSGS7).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071942.
VARIANT 160 160 A -> T (in dbSNP:rs201383632).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068093.
VARIANT 164 164 T -> N (in FSGS7; dbSNP:rs370214925).
{ECO:0000269|PubMed:22213154,
ECO:0000269|PubMed:24676634}.
/FTId=VAR_068094.
VARIANT 175 175 S -> T. {ECO:0000269|PubMed:22213154}.
/FTId=VAR_068095.
VARIANT 189 189 G -> R (in FSGS7; transactivation
activity is dramatically decreased in
presence of TLE4; dramatically enhances
interaction with TLE4).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071943.
VARIANT 295 295 A -> V (in PAPRS).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071944.
VARIANT 296 296 L -> P (in PAPRS).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071945.
VARIANT 298 298 P -> S (in PAPRS).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071946.
VARIANT 329 329 T -> A (in PAPRS).
{ECO:0000269|PubMed:24676634}.
/FTId=VAR_071947.
VARIANT 334 334 A -> V (in dbSNP:rs78738655).
{ECO:0000269|PubMed:11180607,
ECO:0000269|PubMed:22213154}.
/FTId=VAR_012443.
VARIANT 387 387 S -> N (found in a patient with bilateral
optic nerve colobomas; uncertain
pathological significance;
dbSNP:rs138490772).
{ECO:0000269|PubMed:22213154}.
/FTId=VAR_068096.
CONFLICT 15 16 PG -> R (in Ref. 6; AAC41711).
{ECO:0000305}.
CONFLICT 404 404 Missing (in Ref. 1; AAA60024 and 3;
AAC63385). {ECO:0000305}.
CONFLICT 410 410 A -> R (in Ref. 1; AAA60024 and 3;
AAC63385). {ECO:0000305}.
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


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