##gff-version 3 P43694 UniProtKB Chain 1 442 . . . ID=PRO_0000083413;Note=Transcription factor GATA-4 P43694 UniProtKB Zinc finger 217 241 . . . Note=GATA-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00094 P43694 UniProtKB Zinc finger 271 295 . . . Note=GATA-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00094 P43694 UniProtKB Region 60 107 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P43694 UniProtKB Region 314 378 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P43694 UniProtKB Region 409 428 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P43694 UniProtKB Compositional bias 64 90 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P43694 UniProtKB Compositional bias 328 362 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P43694 UniProtKB Modified residue 300 300 . . . Note=N6-methyllysine%3B by EZH2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08369 P43694 UniProtKB Alternative sequence 205 205 . . . ID=VSP_055082;Note=In isoform 2. L->LV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P43694 UniProtKB Natural variant 6 6 . . . ID=VAR_067605;Note=In VSD1. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18672102;Dbxref=dbSNP:rs199922907,PMID:18672102 P43694 UniProtKB Natural variant 9 9 . . . ID=VAR_071514;Note=In TOF%3B slightly diminished DNA-binding affinity%3B decreased transcriptional activity%3B no effect on subcellular location%3B no effect on interaction with TBX5. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24000169;Dbxref=dbSNP:rs864321699,PMID:24000169 P43694 UniProtKB Natural variant 39 39 . . . ID=VAR_072111;Note=Found in patients with dilated cardiomyopathy%3B likely pathogenic%3B results in significantly reduced transactivation activity. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25017055,ECO:0000269|PubMed:7721094;Dbxref=dbSNP:rs1139241,PMID:25017055,PMID:7721094 P43694 UniProtKB Natural variant 43 43 . . . ID=VAR_067606;Note=In VSD1%3B significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22101736;Dbxref=dbSNP:rs387906770,PMID:22101736 P43694 UniProtKB Natural variant 46 46 . . . ID=VAR_067607;Note=In VSD1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18672102;Dbxref=PMID:18672102 P43694 UniProtKB Natural variant 51 51 . . . ID=VAR_071515;Note=In TOF%3B slightly diminished DNA-binding affinity%3B decreased transcriptional activity%3B no effect on subcellular location%3B no effect on interaction with TBX5. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24000169;Dbxref=PMID:24000169 P43694 UniProtKB Natural variant 52 52 . . . ID=VAR_038195;Note=In ASD2. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15810002;Dbxref=dbSNP:rs104894074,PMID:15810002 P43694 UniProtKB Natural variant 93 93 . . . ID=VAR_067608;Note=In ASD2%3B uncertain significance. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18055909;Dbxref=dbSNP:rs56191129,PMID:18055909 P43694 UniProtKB Natural variant 118 118 . . . ID=VAR_067609;Note=In TOF. A->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18672102;Dbxref=PMID:18672102 P43694 UniProtKB Natural variant 163 163 . . . ID=VAR_067610;Note=In AVSD4%3B also in a patient with VSD1 and a patient with TOF. P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17643447,ECO:0000269|PubMed:18672102,ECO:0000269|PubMed:21110066;Dbxref=dbSNP:rs387906769,PMID:17643447,PMID:18672102,PMID:21110066 P43694 UniProtKB Natural variant 221 221 . . . ID=VAR_070670;Note=In TACHD%3B impairs the ability to bind and transactivate the promoter of AMH gene%3B abolishes interaction with ZFPM2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220346;Dbxref=dbSNP:rs398122402,PMID:21220346 P43694 UniProtKB Natural variant 226 226 . . . ID=VAR_072112;Note=Found in patients with dilated cardiomyopathy%3B likely pathogenic%3B results in significantly reduced transactivation activity. P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25017055;Dbxref=PMID:25017055 P43694 UniProtKB Natural variant 271 271 . . . ID=VAR_072113;Note=Found in patients with dilated cardiomyopathy%3B likely pathogenic%3B results in significantly reduced transactivation activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24041700;Dbxref=PMID:24041700 P43694 UniProtKB Natural variant 279 279 . . . ID=VAR_072114;Note=Found in patients with dilated cardiomyopathy%3B likely pathogenic%3B results in significantly reduced transactivation activity. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25017055;Dbxref=PMID:25017055 P43694 UniProtKB Natural variant 280 280 . . . ID=VAR_067611;Note=In ASD2. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20659440;Dbxref=dbSNP:rs387906771,PMID:20659440 P43694 UniProtKB Natural variant 285 285 . . . ID=VAR_071516;Note=In TOF%3B drastically diminished DNA-binding affinity%3B decreased transcriptional activity%3B no effect on subcellular location%3B completely disrupted interaction with TBX5. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24000169;Dbxref=PMID:24000169 P43694 UniProtKB Natural variant 296 296 . . . ID=VAR_067612;Note=In ASD2. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17643447;Dbxref=dbSNP:rs104894073,PMID:17643447 P43694 UniProtKB Natural variant 296 296 . . . ID=VAR_067613;Note=In VSD1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21637914;Dbxref=dbSNP:rs104894073,PMID:21637914 P43694 UniProtKB Natural variant 296 296 . . . ID=VAR_016204;Note=In ASD2%3B decreased function resulting in reduced myocardial genes expression%3B fails to down-regulate endothelial and endocardial genes. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12845333,ECO:0000269|PubMed:15810002,ECO:0000269|PubMed:27984724;Dbxref=dbSNP:rs104894073,PMID:12845333,PMID:15810002,PMID:27984724 P43694 UniProtKB Natural variant 310 310 . . . ID=VAR_067614;Note=In ASD2. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20347099;Dbxref=dbSNP:rs387906772,PMID:20347099 P43694 UniProtKB Natural variant 316 316 . . . ID=VAR_067615;Note=In ASD2%3B uncertain significance. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18055909;Dbxref=dbSNP:rs56298569,PMID:18055909 P43694 UniProtKB Natural variant 346 346 . . . ID=VAR_067616;Note=In AVSD4. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17643447;Dbxref=dbSNP:rs115372595,PMID:17643447 P43694 UniProtKB Natural variant 359 359 . . . ID=VAR_067617;Note=In VSD1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18672102;Dbxref=dbSNP:rs368489876,PMID:18672102 P43694 UniProtKB Natural variant 377 377 . . . ID=VAR_038196;Note=S->G;Dbxref=dbSNP:rs3729856 P43694 UniProtKB Natural variant 403 403 . . . ID=VAR_067618;Note=In ASD2. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17643447;Dbxref=dbSNP:rs777778466,PMID:17643447 P43694 UniProtKB Natural variant 407 407 . . . ID=VAR_067619;Note=In VSD1 and TOF%3B uncertain significance. P->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18672102,ECO:0000269|PubMed:21110066;Dbxref=dbSNP:rs115099192,PMID:18672102,PMID:21110066 P43694 UniProtKB Natural variant 411 411 . . . ID=VAR_067620;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18055909;Dbxref=dbSNP:rs55633527,PMID:18055909 P43694 UniProtKB Natural variant 425 425 . . . ID=VAR_067621;Note=D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18055909,ECO:0000269|PubMed:27535533;Dbxref=dbSNP:rs56208331,PMID:18055909,PMID:27535533 P43694 UniProtKB Natural variant 429 429 . . . ID=VAR_067622;Note=In VSD1. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18672102;Dbxref=PMID:18672102 P43694 UniProtKB Natural variant 442 442 . . . ID=VAR_067623;Note=In VSD1. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18672102;Dbxref=dbSNP:rs146017816,PMID:18672102 P43694 UniProtKB Sequence conflict 19 19 . . . Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 P43694 UniProtKB Sequence conflict 25 25 . . . Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P43694 UniProtKB Sequence conflict 66 66 . . . Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P43694 UniProtKB Sequence conflict 71 71 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P43694 UniProtKB Sequence conflict 95 95 . . . Note=D->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P43694 UniProtKB Sequence conflict 280 280 . . . Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P43694 UniProtKB Turn 272 274 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M9W P43694 UniProtKB Beta strand 282 284 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M9W P43694 UniProtKB Beta strand 290 292 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M9W P43694 UniProtKB Helix 293 301 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M9W