##gff-version 3 O43316 UniProtKB Chain 1 350 . . . ID=PRO_0000050180;Note=Paired box protein Pax-4 O43316 UniProtKB DNA binding 5 131 . . . Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 O43316 UniProtKB DNA binding 170 229 . . . Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 O43316 UniProtKB Region 8 64 . . . Note=PAI subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 O43316 UniProtKB Region 83 131 . . . Note=RED subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 O43316 UniProtKB Region 153 172 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O43316 UniProtKB Region 278 350 . . . Note=Transcription repression O43316 UniProtKB Compositional bias 158 172 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O43316 UniProtKB Alternative sequence 1 8 . . . ID=VSP_036448;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9753306;Dbxref=PMID:15489334,PMID:9753306 O43316 UniProtKB Alternative sequence 239 257 . . . ID=VSP_002359;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43316 UniProtKB Alternative sequence 258 350 . . . ID=VSP_002360;Note=In isoform 2. QSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVDVAWPCLDASLAHHLIGGAGKATPTHFSHWP->AVPWQCAHSSPACPGTTGSLLLSAVLGNSTRKVSE;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43316 UniProtKB Alternative sequence 305 350 . . . ID=VSP_036449;Note=In isoform 3. DCGSFLLPVIAPSCVDVAWPCLDASLAHHLIGGAGKATPTHFSHWP->GHLPPQPNSLDSGLLCLPCPSSHCHLASLSGSQALLWPGCPLLYGLE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9753306;Dbxref=PMID:15489334,PMID:9753306 O43316 UniProtKB Natural variant 39 39 . . . ID=VAR_054879;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17426099;Dbxref=dbSNP:rs115887120,PMID:17426099 O43316 UniProtKB Natural variant 45 45 . . . ID=VAR_054880;Note=In KPD%3B uncertain significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15509590;Dbxref=dbSNP:rs35155575,PMID:15509590 O43316 UniProtKB Natural variant 129 129 . . . ID=VAR_054881;Note=In T2D%3B uncertain significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11723072;Dbxref=dbSNP:rs114202595,PMID:11723072 O43316 UniProtKB Natural variant 141 141 . . . ID=VAR_054882;Note=In KPD%3B uncertain significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15509590;Dbxref=dbSNP:rs2233578,PMID:15509590 O43316 UniProtKB Natural variant 172 172 . . . ID=VAR_054883;Note=In MODY9%3B the mutant sequence represses the activity of the insulin and glucagon promoters by only 35%25 compared to 50%25 and 57%25 respectively with wild-type sequence. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17426099;Dbxref=PMID:17426099 O43316 UniProtKB Natural variant 191 191 . . . ID=VAR_054884;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17426099;Dbxref=dbSNP:rs114315130,PMID:17426099 O43316 UniProtKB Natural variant 200 200 . . . ID=VAR_054885;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17426099;Dbxref=dbSNP:rs2233580,PMID:17426099 O43316 UniProtKB Natural variant 200 200 . . . ID=VAR_054886;Note=R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17426099;Dbxref=dbSNP:rs3824004,PMID:17426099 O43316 UniProtKB Natural variant 321 321 . . . ID=VAR_082834;Note=H->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15834548,ECO:0000269|PubMed:17426099;Dbxref=dbSNP:rs712701,PMID:15834548,PMID:17426099