PAX2_MOUSE
ID PAX2_MOUSE Reviewed; 414 AA.
AC P32114; A7E2R6;
DT 01-OCT-1993, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 25-MAY-2022, entry version 185.
DE RecName: Full=Paired box protein Pax-2;
GN Name=Pax2; Synonyms=Pax-2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Embryo;
RX PubMed=1977574; DOI=10.1242/dev.109.4.787;
RA Dressler G.R., Deutsch U., Chowdhury K., Nornes H.O., Gruss P.;
RT "Pax2, a new murine paired-box-containing gene and its expression in the
RT developing excretory system.";
RL Development 109:787-795(1990).
RN [2]
RP SEQUENCE REVISION TO 114-115 AND 118.
RX PubMed=1516825; DOI=10.1101/gad.6.9.1589;
RA Adams B., Doerfler P., Aguzzi A., Kozmik Z., Urbanek P., Maurer-Fogy I.,
RA Busslinger M.;
RT "Pax-5 encodes the transcription factor BSAP and is expressed in B
RT lymphocytes, the developing CNS, and adult testis.";
RL Genes Dev. 6:1589-1607(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP DEVELOPMENTAL STAGE.
RX PubMed=1977575; DOI=10.1242/dev.109.4.797;
RA Nornes H.O., Dressler G.R., Knapik E.W., Deutsch U., Gruss P.;
RT "Spatially and temporally restricted expression of Pax2 during murine
RT neurogenesis.";
RL Development 109:797-809(1990).
RN [5]
RP DISEASE.
RX PubMed=8943028; DOI=10.1073/pnas.93.24.13870;
RA Favor J., Sandulache R., Neuhauser-Klaus A., Pretsch W., Chatterjee B.,
RA Senft E., Wurst W., Blanquet V., Grimes P., Sporle R., Schughart K.;
RT "The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a
RT family with renal-coloboma syndrome and results in developmental defects of
RT the brain, ear, eye, and kidney.";
RL Proc. Natl. Acad. Sci. U.S.A. 93:13870-13875(1996).
CC -!- FUNCTION: Transcription factor that may have a role in kidney cell
CC differentiation. {ECO:0000250|UniProtKB:Q02962}.
CC -!- SUBUNIT: Interacts with ELGN3; the interaction targets PAX2 for
CC destruction. Interacts with TLE4. {ECO:0000250|UniProtKB:Q02962}.
CC -!- INTERACTION:
CC P32114; Q6NZQ4: Paxip1; NbExp=3; IntAct=EBI-1395232, EBI-1395317;
CC P32114-2; Q6NZQ4: Paxip1; NbExp=2; IntAct=EBI-1395250, EBI-1395317;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=Long;
CC IsoId=P32114-1; Sequence=Displayed;
CC Name=Short;
CC IsoId=P32114-2; Sequence=VSP_002347;
CC -!- TISSUE SPECIFICITY: Kidney and nephrogenic rests.
CC -!- DEVELOPMENTAL STAGE: Expressed in the developing embryo excretory and
CC central nervous systems. In the developing excretory system; expressed
CC in the pronephric tubules and extending nephric duct beginning at day 9
CC gestation. At 10 dpc, detected in the nephric cord, Wolffian duct and
CC also individual pronephric tubules. At 11 dpc, expressed in the
CC branched ureter and the mesenchymal condensations, at 12 dpc,
CC expression seen in the collecting ducts and condensed mesenchymal
CC cells. At 14-17 dpc, expressed in the perimeter of the growing kidney
CC but expression declines in the more developed glomerular crevices, and
CC at later developmental stages expression in the kidney declines. In the
CC developing CNS; initially expressed in the ventricular zone in two
CC compartments of cells on either side of the sulcus limitans and along
CC the entire rhombencephalon and spinal cord, later is restricted to
CC progeny cells that have migrated to specific regions of the
CC intermediate zone. In the eye, expression is restricted to the ventral
CC half of the optic cup and stalk and later to the optic disk and nerve.
CC In the ear, expression is restricted to regions of the otic vesicle
CC that form neuronal components. {ECO:0000269|PubMed:1977575}.
CC -!- DISEASE: Note=Defects in Pax2 are a cause of developmental defects of
CC the kidney, brain, ear and eye. {ECO:0000269|PubMed:8943028}.
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DR EMBL; X55781; CAA39302.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC148232; AAI48233.1; -; mRNA.
DR EMBL; BC150484; AAI50485.1; -; mRNA.
DR PIR; A60086; A60086.
DR RefSeq; NP_035167.4; NM_011037.4.
DR AlphaFoldDB; P32114; -.
DR SMR; P32114; -.
DR BioGRID; 202029; 4.
DR IntAct; P32114; 1.
DR STRING; 10090.ENSMUSP00000004340; -.
DR iPTMnet; P32114; -.
DR PhosphoSitePlus; P32114; -.
DR MaxQB; P32114; -.
DR PRIDE; P32114; -.
DR ProteomicsDB; 294017; -. [P32114-1]
DR ProteomicsDB; 294018; -. [P32114-2]
DR DNASU; 18504; -.
DR GeneID; 18504; -.
DR KEGG; mmu:18504; -.
DR UCSC; uc008hqa.2; mouse. [P32114-2]
DR CTD; 5076; -.
DR MGI; MGI:97486; Pax2.
DR eggNOG; KOG3862; Eukaryota.
DR InParanoid; P32114; -.
DR OrthoDB; 592933at2759; -.
DR PhylomeDB; P32114; -.
DR BioGRID-ORCS; 18504; 1 hit in 73 CRISPR screens.
DR PRO; PR:P32114; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; P32114; protein.
DR GO; GO:0034451; C:centriolar satellite; ISS:UniProtKB.
DR GO; GO:0005764; C:lysosome; ISO:MGI.
DR GO; GO:0005815; C:microtubule organizing center; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0032993; C:protein-DNA complex; IDA:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; TAS:MGI.
DR GO; GO:0070742; F:C2H2 zinc finger domain binding; IPI:UniProtKB.
DR GO; GO:0000987; F:cis-regulatory region sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:MGI.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:UniProtKB.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0048854; P:brain morphogenesis; IMP:DFLAT.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IMP:MGI.
DR GO; GO:0043010; P:camera-type eye development; IMP:MGI.
DR GO; GO:0001709; P:cell fate determination; IMP:MGI.
DR GO; GO:0071333; P:cellular response to glucose stimulus; IMP:UniProtKB.
DR GO; GO:0070301; P:cellular response to hydrogen peroxide; IEP:UniProtKB.
DR GO; GO:0071260; P:cellular response to mechanical stimulus; IEP:UniProtKB.
DR GO; GO:0071300; P:cellular response to retinoic acid; IEP:UniProtKB.
DR GO; GO:0007417; P:central nervous system development; IEP:UniProtKB.
DR GO; GO:0090102; P:cochlea development; IMP:DFLAT.
DR GO; GO:0090103; P:cochlea morphogenesis; IMP:DFLAT.
DR GO; GO:0071542; P:dopaminergic neuron differentiation; TAS:ParkinsonsUK-UCL.
DR GO; GO:0010001; P:glial cell differentiation; IMP:DFLAT.
DR GO; GO:0042472; P:inner ear morphogenesis; IMP:DFLAT.
DR GO; GO:0001822; P:kidney development; IMP:MGI.
DR GO; GO:0060231; P:mesenchymal to epithelial transition; IMP:MGI.
DR GO; GO:0003337; P:mesenchymal to epithelial transition involved in metanephros morphogenesis; IEP:UniProtKB.
DR GO; GO:0007501; P:mesodermal cell fate specification; IDA:UniProtKB.
DR GO; GO:0072177; P:mesonephric duct development; IMP:UniProtKB.
DR GO; GO:0072164; P:mesonephric tubule development; IMP:UniProtKB.
DR GO; GO:0072172; P:mesonephric tubule formation; IMP:UniProtKB.
DR GO; GO:0001823; P:mesonephros development; IMP:UniProtKB.
DR GO; GO:0072205; P:metanephric collecting duct development; IMP:UniProtKB.
DR GO; GO:0072221; P:metanephric distal convoluted tubule development; IMP:UniProtKB.
DR GO; GO:0072207; P:metanephric epithelium development; IEP:UniProtKB.
DR GO; GO:0072162; P:metanephric mesenchymal cell differentiation; IMP:UniProtKB.
DR GO; GO:0072075; P:metanephric mesenchyme development; IDA:UniProtKB.
DR GO; GO:0072289; P:metanephric nephron tubule formation; IMP:UniProtKB.
DR GO; GO:0001656; P:metanephros development; IMP:MGI.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB.
DR GO; GO:1900215; P:negative regulation of apoptotic process involved in metanephric collecting duct development; IMP:UniProtKB.
DR GO; GO:1900218; P:negative regulation of apoptotic process involved in metanephric nephron tubule development; IMP:UniProtKB.
DR GO; GO:0043154; P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; ISS:UniProtKB.
DR GO; GO:0072305; P:negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; IMP:UniProtKB.
DR GO; GO:1900212; P:negative regulation of mesenchymal cell apoptotic process involved in metanephros development; IMP:UniProtKB.
DR GO; GO:0043069; P:negative regulation of programmed cell death; IMP:MGI.
DR GO; GO:2000378; P:negative regulation of reactive oxygen species metabolic process; ISS:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IGI:MGI.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0072179; P:nephric duct formation; IDA:UniProtKB.
DR GO; GO:0001843; P:neural tube closure; IMP:DFLAT.
DR GO; GO:0061360; P:optic chiasma development; IMP:DFLAT.
DR GO; GO:0002072; P:optic cup morphogenesis involved in camera-type eye development; IMP:DFLAT.
DR GO; GO:0021554; P:optic nerve development; IMP:DFLAT.
DR GO; GO:0021631; P:optic nerve morphogenesis; IMP:DFLAT.
DR GO; GO:0021633; P:optic nerve structural organization; IMP:DFLAT.
DR GO; GO:0031016; P:pancreas development; IEP:UniProtKB.
DR GO; GO:0061205; P:paramesonephric duct development; IMP:UniProtKB.
DR GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; IMP:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; ISO:MGI.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; ISO:MGI.
DR GO; GO:0072108; P:positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; IGI:UniProtKB.
DR GO; GO:2000594; P:positive regulation of metanephric DCT cell differentiation; IMP:UniProtKB.
DR GO; GO:0072300; P:positive regulation of metanephric glomerulus development; IMP:UniProtKB.
DR GO; GO:2000597; P:positive regulation of optic nerve formation; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0039003; P:pronephric field specification; IEP:UniProtKB.
DR GO; GO:0048793; P:pronephros development; IMP:UniProtKB.
DR GO; GO:0043491; P:protein kinase B signaling; IMP:UniProtKB.
DR GO; GO:0072593; P:reactive oxygen species metabolic process; IMP:UniProtKB.
DR GO; GO:0042981; P:regulation of apoptotic process; IMP:UniProtKB.
DR GO; GO:0072307; P:regulation of metanephric nephron tubule epithelial cell differentiation; IMP:UniProtKB.
DR GO; GO:0035566; P:regulation of metanephros size; IMP:UniProtKB.
DR GO; GO:0043067; P:regulation of programmed cell death; IGI:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0003406; P:retinal pigment epithelium development; IMP:DFLAT.
DR GO; GO:0048863; P:stem cell differentiation; IDA:UniProtKB.
DR GO; GO:0072189; P:ureter development; IMP:UniProtKB.
DR GO; GO:0035799; P:ureter maturation; IMP:UniProtKB.
DR GO; GO:0072197; P:ureter morphogenesis; IGI:MGI.
DR GO; GO:0001657; P:ureteric bud development; IGI:MGI.
DR GO; GO:0001655; P:urogenital system development; IMP:MGI.
DR GO; GO:0021650; P:vestibulocochlear nerve formation; IMP:DFLAT.
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; DNA-binding;
KW Nucleus; Paired box; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..414
FT /note="Paired box protein Pax-2"
FT /id="PRO_0000050176"
FT DNA_BIND 15..141
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 18..74
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 93..141
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT MOD_RES 225
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q02962"
FT VAR_SEQ 205..227
FT /note="Missing (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_002347"
FT CONFLICT 15
FT /note="R -> PG (in Ref. 2; AAI48233/AAI50485)"
FT /evidence="ECO:0000305"
FT CONFLICT 115..116
FT /note="DR -> AQ (in Ref. 1; CAA39302)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="A -> R (in Ref. 1; CAA39302)"
FT /evidence="ECO:0000305"
FT CONFLICT 344
FT /note="V -> L (in Ref. 1; CAA39302)"
FT /evidence="ECO:0000305"
FT CONFLICT 403..407
FT /note="GSAPA -> SAPAAR (in Ref. 1; CAA39302)"
FT /evidence="ECO:0000305"
FT CONFLICT 410
FT /note="A -> AAA (in Ref. 2; AAI48233/AAI50485)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 414 AA; 44580 MW; 7BADF256609F4811 CRC64;
MDMHCKADPF SAMHRHGGVN QLGGVFVNGR PLPDVVRQRI VELAHQGVRP CDISRQLRVS
HGCVSKILGR YYETGSIKPG VIGGSKPKVA TPKVVDKIAE YKRQNPTMFA WEIRDRLLAE
GICDNDTVPS VSSINRIIRT KVQQPFHPTP DGAGTGVTAP GHTIVPSTAS PPVSSASNDP
VGSYSINGIL GIPRSNGEKR KREEVEVYTD PAHIRGGGGL HLVWTLRDVS EGSVPNGDSQ
SGVDSLRKHL RADTFTQQQL EALDRVFERP SYPDVFQASE HIKSEQGNEY SLPALTPGLD
EVKSSLSASA NPELGSNVSG TQTYPVVTGR DMTSTTLPGY PPHVPPTGQG SYPTSTLAGM
VPGSEFSGNP YSHPQYTAYN EAWRFSNPAL LSSPYYYSAA PRGSAPAAAA YDRH
