878:
105:
130:
136:
29:
1629:
1287:
Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, et al. (August 1999). "Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element".
143:
553:
1612:
1346:"Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update"
1119:
The two homeodomains and TAD have well-defined tertiary structure. The region between the second homeodomain and TAD is predicted to be disordered.
1525:"Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis"
1269:
1708:
1192:
866:
1674:
1693:
790:
1398:
1011:
1256:
1068:
1059:. Exons 1 and 2 are present in each D4Z4 repeat. Only one copy of exon 3 is present, telomeric to the D4Z4 repeat array. The
129:
104:
1252:
1149:
DUX4 protein a transcriptional activator of many genes, one example being paired-like homeodomain transcription factor 1 (
62:
1160:
The two homeodomains allow DUX4 protein to bind to DNA. The C-terminal domain is involved in target gene activation.
142:
1667:
1199:
1154:
1001:
135:
877:
1703:
989:
600:
596:
1574:"Making heads or tails - the emergence of capicua (CIC) as an important multifunctional tumour suppressor"
1466:
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, et al. (September 2010).
1103:
1660:
1479:
1048:
118:
49:
1044:
979:
754:
750:
746:
701:
697:
693:
689:
685:
1060:
78:
1595:
1554:
1505:
1448:
1377:
1305:
1172:
1052:
42:
1644:
1585:
1544:
1536:
1523:
Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, et al. (October 2012).
1495:
1487:
1438:
1428:
1367:
1357:
1297:
222:
153:
1415:
Lee JK, Bosnakovski D, Toso EA, Dinh T, Banerjee S, Bohl TE, et al. (December 2018).
1203:
1141:
mRNA encodes for a partial DUX4 protein, which lacks the transcription-activating domain.
1072:
923:
197:
74:
1051:. The D4Z4 repeat array contains 11-150 D4Z4 repeats in the general population; a highly
1483:
1698:
1549:
1524:
1500:
1467:
1443:
1416:
1372:
1345:
1076:
1040:
1301:
487:
482:
477:
472:
467:
462:
457:
452:
436:
431:
426:
421:
416:
411:
395:
390:
385:
380:
375:
370:
1687:
1616:
357:
1640:
1055:
D4Z4 repeat array has been identified on chromosome 10. The gene consists of three
215:
95:
1433:
82:
1274:
National Center for
Biotechnology Information, U.S. National Library of Medicine
891:
1362:
1207:
1113:
1099:
1095:
112:
28:
1491:
1253:
ENSG00000283949 GRCh38: Ensembl release 89: ENSG00000260596, ENSG00000283949
902:
517:
315:
236:
181:
168:
70:
1599:
1558:
1509:
1452:
1381:
1309:
1083:
and in-vitro expression experiments indicate that the ORF is transcribed.
833:
1540:
1417:"Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA"
1223:
1064:
822:
643:
391:
DNA-binding transcription activator activity, RNA polymerase II-specific
1211:
1188:
1176:
855:
629:
582:
1590:
1573:
1468:"A unifying genetic model for facioscapulohumeral muscular dystrophy"
1168:
1164:
1080:
803:
539:
386:
RNA polymerase II cis-regulatory region sequence-specific DNA binding
1628:
1228:
1150:
1107:
1056:
876:
502:
498:
1636:
1116:. The TAD encompasses a potential nine amino acid TAD (9aaTAD).
862:
66:
1075:
signal. There was no evidence for transcription from standard
1063:(ORF) is entirely contained within exon 1 and contains two
1339:
1086:
The repeat-array and ORF are conserved in other mammals.
473:
positive regulation of transcription by RNA polymerase II
1337:
1335:
1333:
1331:
1329:
1327:
1325:
1323:
1321:
1319:
205:
1648:
881:
D4Z4 array with three D4Z4 repeats and the 4qA allele
327:
1344:
Schätzl, T; Kaiser, L; Deigner, HP (12 March 2021).
468:
negative regulation of cell population proliferation
1071:(3′-UTR). In certain haplotypes, exon 3 contains a
768:
739:
715:
678:
1248:
1246:
1244:
152:
1668:
1125:transcripts can be spliced to produce either
396:sequence-specific double-stranded DNA binding
8:
1410:
1408:
1098:long. Two homeodomains are situated at the
376:transcription cis-regulatory region binding
1675:
1661:
1613:United States National Library of Medicine
1137:mRNA encodes for the entire DUX4 protein.
513:
458:regulation of transcription, DNA-templated
453:negative regulation of G0 to G1 transition
353:
193:
90:
1589:
1548:
1499:
1442:
1432:
1371:
1361:
1611:This article incorporates text from the
1393:
1391:
1206:. A translocation that merges DUX4 with
1240:
1399:"Entrez Gene: DUX4 Double homeobox, 4"
1193:facioscapulohumeral muscular dystrophy
867:facioscapulohumeral muscular dystrophy
18:
1104:transcription-activating domain (TAD)
157:
116:
111:
7:
1625:
1623:
1187:Inappropriate expression of DUX4 in
1112:-binding domain are situated at the
865:. Its misexpression is the cause of
1039:This gene is located within a D4Z4
1647:. You can help Knowledge (XXG) by
858:which in humans is encoded by the
765:
736:
712:
675:
653:
634:
610:
587:
563:
544:
488:multicellular organism development
483:transcription by RNA polymerase II
332:
293:
231:
210:
14:
1350:Orphanet Journal of Rare Diseases
1163:DUX is normally expressed in the
1627:
1210:can cause an aggressive type of
141:
134:
128:
103:
27:
1069:three prime untranslated region
1067:. Exons 2 and 3 encode for the
1198:Overexpression of DUX4 due to
316:More reference expression data
1:
1709:Human chromosome 4 gene stubs
1302:10.1016/S0378-1119(99)00267-X
126:
1572:Wong D, Yip S (April 2020).
1434:10.1016/j.celrep.2018.11.060
463:transcription, DNA-templated
1694:Genes on human chromosome 4
1725:
1622:
1363:10.1186/s13023-021-01760-1
53:, DUX4L, double homeobox 4
1270:"Human PubMed Reference:"
1155:zygotic genome activation
966:
837:
832:
828:
821:
802:
791:Chr 4: 190.17 – 190.19 Mb
785:
772:
743:
732:
719:
682:
671:
660:
656:
641:
637:
628:
617:
613:
594:
590:
581:
570:
566:
551:
547:
538:
523:
516:
512:
496:
356:
352:
340:
335:
326:
313:
300:
296:
243:
234:
204:
196:
192:
175:
162:
125:
102:
93:
89:
60:
57:
47:
40:
35:
26:
21:
1578:The Journal of Pathology
1529:Human Molecular Genetics
1153:). It likely stimulates
1492:10.1126/science.1189044
16:Protein found in humans
1036:
1183:Clinical significance
1133:(full length) mRNAs.
880:
271:primary visual cortex
1427:(11): 2955–2962.e3.
1094:DUX4 protein is 424
1043:repeat array in the
944:partial D4Z4 repeat
275:smooth muscle tissue
119:Chromosome 4 (human)
1484:2010Sci...329.1650L
1045:subtelomeric region
962:DUX4 exons 1, 2, 3
915:non-deleted element
1635:This article on a
1615:, which is in the
1541:10.1093/hmg/dds284
1061:open reading frame
1037:
848:Double homeobox, 4
446:Biological process
405:Cellular component
364:Molecular function
1656:
1655:
1591:10.1002/path.5400
1035:
1034:
845:
844:
841:
840:
817:
816:
781:
780:
762:
761:
728:
727:
709:
708:
667:
666:
650:
649:
624:
623:
607:
606:
577:
576:
560:
559:
508:
507:
478:apoptotic process
348:
347:
344:
343:
322:
321:
309:
308:
290:
289:
188:
187:
1716:
1677:
1670:
1663:
1631:
1624:
1604:
1603:
1593:
1569:
1563:
1562:
1552:
1520:
1514:
1513:
1503:
1478:(5999): 1650–3.
1463:
1457:
1456:
1446:
1436:
1412:
1403:
1402:
1395:
1386:
1385:
1375:
1365:
1341:
1314:
1313:
1284:
1278:
1277:
1266:
1260:
1250:
1191:is the cause of
883:
882:
830:
829:
813:
798:
793:
776:
766:
757:
737:
733:RefSeq (protein)
723:
713:
704:
676:
654:
635:
611:
588:
564:
545:
514:
412:nuclear membrane
354:
333:
318:
294:
239:
237:Top expressed in
232:
211:
194:
184:
171:
160:
145:
138:
132:
121:
107:
91:
85:
83:DUX4 - orthologs
52:
45:
31:
19:
1724:
1723:
1719:
1718:
1717:
1715:
1714:
1713:
1684:
1683:
1682:
1681:
1608:
1607:
1571:
1570:
1566:
1535:(20): 4419–30.
1522:
1521:
1517:
1465:
1464:
1460:
1414:
1413:
1406:
1397:
1396:
1389:
1343:
1342:
1317:
1286:
1285:
1281:
1268:
1267:
1263:
1251:
1242:
1237:
1220:
1204:B-cell leukemia
1185:
1147:
1092:
1073:polyadenylation
1049:chromosome 4q35
990:RNA transcripts
924:polyadenylation
875:
834:View/Edit Human
811:
796:
789:
786:Location (UCSC)
774:
753:
749:
745:
721:
700:
696:
692:
688:
684:
601:ENSG00000283949
599:
597:ENSG00000260596
492:
441:
437:Golgi apparatus
400:
381:protein binding
314:
305:
286:
281:
277:
273:
269:
265:
263:muscle of thigh
261:
257:
253:
249:
235:
179:
166:
158:
148:
147:
146:
139:
117:
94:Gene location (
61:
48:
41:
17:
12:
11:
5:
1722:
1720:
1712:
1711:
1706:
1704:Human proteins
1701:
1696:
1686:
1685:
1680:
1679:
1672:
1665:
1657:
1654:
1653:
1632:
1606:
1605:
1584:(5): 532–540.
1564:
1515:
1458:
1404:
1387:
1315:
1279:
1261:
1239:
1238:
1236:
1233:
1232:
1231:
1226:
1219:
1216:
1200:translocations
1184:
1181:
1146:
1143:
1091:
1088:
1077:cDNA libraries
1041:macrosatellite
1033:
1032:
1029:
1024:
1021:
1015:
1014:
1009:
1004:
999:
993:
992:
987:
982:
977:
971:
970:
964:
963:
960:
955:
952:
946:
945:
942:
937:
934:
928:
927:
921:
916:
913:
907:
906:
900:
895:
889:
874:
871:
850:also known as
843:
842:
839:
838:
836:
826:
825:
819:
818:
815:
814:
809:
807:
800:
799:
794:
787:
783:
782:
779:
778:
770:
769:
763:
760:
759:
741:
740:
734:
730:
729:
726:
725:
717:
716:
710:
707:
706:
680:
679:
673:
669:
668:
665:
664:
658:
657:
651:
648:
647:
639:
638:
632:
626:
625:
622:
621:
615:
614:
608:
605:
604:
592:
591:
585:
579:
578:
575:
574:
568:
567:
561:
558:
557:
549:
548:
542:
536:
535:
530:
525:
521:
520:
510:
509:
506:
505:
494:
493:
491:
490:
485:
480:
475:
470:
465:
460:
455:
449:
447:
443:
442:
440:
439:
434:
429:
424:
419:
414:
408:
406:
402:
401:
399:
398:
393:
388:
383:
378:
373:
367:
365:
361:
360:
350:
349:
346:
345:
342:
341:
338:
337:
330:
324:
323:
320:
319:
311:
310:
307:
306:
304:
301:
298:
297:
291:
288:
287:
285:
284:
280:
276:
272:
268:
264:
260:
256:
252:
248:
244:
241:
240:
228:
227:
219:
208:
202:
201:
198:RNA expression
190:
189:
186:
185:
177:
173:
172:
164:
161:
156:
150:
149:
140:
133:
127:
123:
122:
115:
109:
108:
100:
99:
87:
86:
59:
55:
54:
46:
38:
37:
33:
32:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1721:
1710:
1707:
1705:
1702:
1700:
1697:
1695:
1692:
1691:
1689:
1678:
1673:
1671:
1666:
1664:
1659:
1658:
1652:
1650:
1646:
1642:
1638:
1633:
1630:
1626:
1621:
1620:
1618:
1617:public domain
1614:
1601:
1597:
1592:
1587:
1583:
1579:
1575:
1568:
1565:
1560:
1556:
1551:
1546:
1542:
1538:
1534:
1530:
1526:
1519:
1516:
1511:
1507:
1502:
1497:
1493:
1489:
1485:
1481:
1477:
1473:
1469:
1462:
1459:
1454:
1450:
1445:
1440:
1435:
1430:
1426:
1422:
1418:
1411:
1409:
1405:
1400:
1394:
1392:
1388:
1383:
1379:
1374:
1369:
1364:
1359:
1355:
1351:
1347:
1340:
1338:
1336:
1334:
1332:
1330:
1328:
1326:
1324:
1322:
1320:
1316:
1311:
1307:
1303:
1299:
1295:
1291:
1283:
1280:
1275:
1271:
1265:
1262:
1258:
1254:
1249:
1247:
1245:
1241:
1234:
1230:
1227:
1225:
1222:
1221:
1217:
1215:
1213:
1209:
1205:
1201:
1196:
1194:
1190:
1182:
1180:
1178:
1174:
1170:
1166:
1161:
1158:
1156:
1152:
1144:
1142:
1140:
1136:
1132:
1128:
1124:
1120:
1117:
1115:
1111:
1110:
1105:
1101:
1097:
1089:
1087:
1084:
1082:
1078:
1074:
1070:
1066:
1062:
1058:
1054:
1050:
1046:
1042:
1031:dicing sites
1030:
1028:
1025:
1022:
1020:
1017:
1016:
1013:
1010:
1008:
1005:
1003:
1000:
998:
995:
994:
991:
988:
986:
983:
981:
978:
976:
973:
972:
969:
965:
961:
959:
956:
953:
951:
948:
947:
943:
941:
938:
935:
933:
930:
929:
925:
922:
920:
917:
914:
912:
909:
908:
904:
901:
899:
896:
893:
890:
888:
885:
884:
879:
872:
870:
868:
864:
861:
857:
853:
849:
835:
831:
827:
824:
820:
810:
808:
805:
801:
795:
792:
788:
784:
777:
771:
767:
764:
758:
756:
752:
748:
742:
738:
735:
731:
724:
718:
714:
711:
705:
703:
699:
695:
691:
687:
681:
677:
674:
672:RefSeq (mRNA)
670:
663:
659:
655:
652:
646:
645:
640:
636:
633:
631:
627:
620:
616:
612:
609:
603:
602:
598:
593:
589:
586:
584:
580:
573:
569:
565:
562:
556:
555:
550:
546:
543:
541:
537:
534:
531:
529:
526:
522:
519:
515:
511:
504:
500:
495:
489:
486:
484:
481:
479:
476:
474:
471:
469:
466:
464:
461:
459:
456:
454:
451:
450:
448:
445:
444:
438:
435:
433:
430:
428:
425:
423:
420:
418:
415:
413:
410:
409:
407:
404:
403:
397:
394:
392:
389:
387:
384:
382:
379:
377:
374:
372:
369:
368:
366:
363:
362:
359:
358:Gene ontology
355:
351:
339:
334:
331:
329:
325:
317:
312:
302:
299:
295:
292:
283:apex of heart
282:
278:
274:
270:
266:
262:
258:
254:
250:
246:
245:
242:
238:
233:
230:
229:
226:
224:
220:
218:
217:
213:
212:
209:
207:
203:
199:
195:
191:
183:
178:
174:
170:
165:
155:
151:
144:
137:
131:
124:
120:
114:
110:
106:
101:
97:
92:
88:
84:
80:
76:
72:
68:
64:
56:
51:
44:
39:
34:
30:
25:
20:
1649:expanding it
1641:chromosome 4
1634:
1610:
1609:
1581:
1577:
1567:
1532:
1528:
1518:
1475:
1471:
1461:
1424:
1421:Cell Reports
1420:
1353:
1349:
1296:(1): 25–32.
1293:
1289:
1282:
1273:
1264:
1197:
1189:muscle cells
1186:
1162:
1159:
1148:
1138:
1134:
1130:
1126:
1122:
1121:
1118:
1108:
1093:
1085:
1038:
1026:
1018:
1006:
996:
984:
974:
967:
957:
949:
939:
931:
918:
910:
897:
886:
859:
851:
847:
846:
773:
755:NP_001350749
751:NP_001292997
747:NP_001280727
744:
720:
702:NM_001363820
698:NM_001306068
694:NM_001293798
690:NM_001278056
686:NM_001205218
683:
661:
642:
618:
595:
571:
552:
532:
527:
267:right testis
221:
214:
180:190,185,942
167:190,173,774
58:External IDs
1129:(short) or
1096:amino acids
936:D4Z4 repeat
892:centromeric
422:nucleoplasm
371:DNA binding
259:left testis
255:sural nerve
36:Identifiers
1688:Categories
1356:(1): 129.
1259:, May 2017
1235:References
1202:can cause
1114:C-terminus
1100:N-terminus
1065:homeoboxes
1053:homologous
958:gray boxes
225:(ortholog)
1639:on human
1090:Structure
1012:antisense
980:promoters
950:white box
940:trapezoid
903:telomeric
554:100288687
518:Orthologs
427:nucleolus
71:GeneCards
1600:32073140
1559:22798623
1510:20724583
1453:30540931
1382:33712050
1310:10433963
1255:–
1224:Homeobox
1218:See also
1195:(FSHD).
1173:cleavage
1145:Function
1079:however
985:straight
932:triangle
869:(FSHD).
823:Wikidata
497:Sources:
279:duodenum
251:monocyte
1550:3459465
1501:4677822
1480:Bibcode
1472:Science
1444:6463520
1373:7953708
1257:Ensembl
1212:sarcoma
1177:embryos
1175:-stage
1135:DUX4-FL
1131:DUX4-FL
911:NDE box
856:protein
630:UniProt
583:Ensembl
524:Species
503:QuickGO
432:cytosol
417:nucleus
200:pattern
43:Aliases
1598:
1557:
1547:
1508:
1498:
1451:
1441:
1380:
1370:
1308:
1171:, and
1169:thymus
1165:testes
1139:DUX4-S
1127:DUX4-S
1081:RT-PCR
1027:dashes
975:corner
968:arrows
806:search
804:PubMed
644:Q9UBX2
540:Entrez
328:BioGPS
159:4q35.2
67:606009
1699:Genes
1643:is a
1229:PITX1
1151:PITX1
1057:exons
1023:DBE-T
1002:sense
997:black
926:site
854:is a
533:Mouse
528:Human
499:Amigo
247:gonad
223:Mouse
216:Human
163:Start
96:Human
1645:stub
1637:gene
1596:PMID
1555:PMID
1506:PMID
1449:PMID
1378:PMID
1306:PMID
1290:Gene
1123:DUX4
1109:p300
1106:and
1102:. A
1019:blue
954:pLAM
905:end
873:Gene
863:gene
860:DUX4
852:DUX4
206:Bgee
154:Band
113:Chr.
75:DUX4
63:OMIM
50:DUX4
22:DUX4
1586:doi
1582:250
1545:PMC
1537:doi
1496:PMC
1488:doi
1476:329
1439:PMC
1429:doi
1368:PMC
1358:doi
1298:doi
1294:236
1208:CIC
1047:of
1007:red
919:PAS
898:TEL
894:end
887:CEN
812:n/a
797:n/a
775:n/a
722:n/a
662:n/a
619:n/a
572:n/a
336:n/a
303:n/a
176:End
79:OMA
1690::
1594:.
1580:.
1576:.
1553:.
1543:.
1533:21
1531:.
1527:.
1504:.
1494:.
1486:.
1474:.
1470:.
1447:.
1437:.
1425:25
1423:.
1419:.
1407:^
1390:^
1376:.
1366:.
1354:16
1352:.
1348:.
1318:^
1304:.
1292:.
1272:.
1243:^
1214:.
1179:.
1167:,
1157:.
501:/
182:bp
169:bp
77:;
73::
69:;
65::
1676:e
1669:t
1662:v
1651:.
1619:.
1602:.
1588::
1561:.
1539::
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1455:.
1431::
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1276:.
98:)
81::
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