250:
227:
149:
124:
501:
256:
155:
20:
1710:
1539:
Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, et al. (December 2001). "A repeat expansion in the gene encoding junctophilin-3 is associated with
Huntington disease-like 2".
263:
162:
1577:
Stevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dodé C, et al. (March 2002). "CAG/CTG repeat expansions at the
Huntington's disease-like 2 locus are rare in Huntington's disease patients".
1300:
Seixas AI, Holmes SE, Takeshima H, Pavlovich A, Sachs N, Pruitt JL, et al. (February 2012). "Loss of junctophilin-3 contributes to
Huntington disease-like 2 pathogenesis".
1265:
Nishi M, Hashimoto K, Kuriyama K, Komazaki S, Kano M, Shibata S, Takeshima H (March 2002). "Motor discoordination in mutant mice lacking junctophilin type 3".
1467:
Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, et al. (July 1997). "cDNAs with long CAG trinucleotide repeats from human brain".
739:
720:
85:
1075:. Although the precise function of the protein has not been determined, it has been shown to play a role in motor coordination and memory through
1616:"Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity"
1171:
1153:
1438:
962:
955:
1779:
1755:
1774:
1087:
1136:
1115:
1343:
Chen Z, Sequeiros J, Tang B, Jiang H (December 2018). "Genetic modifiers of age-at-onset in polyglutamine diseases".
1230:
Nishi M, Mizushima A, Nakagawara K, Takeshima H (July 2000). "Characterization of human junctophilin subtype genes".
1082:
The JPH3 gene contains a CAG/CTG trinucleotide repeat segment. Expansion of this segment in various genes can cause
249:
1140:
1119:
226:
1072:
784:
1060:
membrane and a cytoplasmic domain that displays specific affinity for the plasma membrane, as well as several
1083:
1030:
148:
123:
765:
65:
1453:
1439:
https://www.omim.org/entry/605268?search=junctophilin-3&highlight=%28junctophilin%7Cjunctophilin3%29
1045:
in excitable cells. JPH3 is localized to the brain and is associated with motor coordination and memory
1748:
262:
161:
1052:
The protein contains 748 residues and is composed of a C-terminal hydrophobic segment that spans the
255:
154:
52:
1061:
913:
909:
858:
854:
73:
938:
917:
883:
862:
1057:
1614:
Grimsby S, Jaensson H, Dubrovska A, Lomnytska M, Hellman U, Souchelnytskyi S (November 2004).
1741:
1053:
1042:
137:
1094:, which can aggregate in neurons, leading to the degeneration of neuronal subpopulations.
1034:
93:
8:
1091:
1683:
1658:
1645:
1602:
1565:
1492:
1417:
1368:
1325:
1086:. The expansion of the CAG tandem repeat in JPH3 is associated with the HDL2's type of
97:
1207:
1190:
654:
649:
644:
639:
634:
629:
624:
619:
614:
609:
593:
588:
583:
578:
573:
568:
563:
547:
542:
1688:
1637:
1594:
1557:
1527:
1506:"Biglycan, a vascular proteoglycan, binds differently to HDL2 and HDL3: role of apoE"
1484:
1409:
1360:
1317:
1282:
1247:
1212:
1076:
45:
1606:
1569:
1496:
1421:
1372:
77:
1678:
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1627:
1586:
1549:
1517:
1476:
1399:
1352:
1329:
1309:
1274:
1239:
1202:
342:
273:
217:
172:
1632:
1615:
1649:
317:
101:
1659:"Large-scale mapping of human protein-protein interactions by mass spectrometry"
1176:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1158:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1725:
418:
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1356:
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1721:
1404:
1387:
1038:
529:
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1505:
478:
356:
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1598:
1561:
1531:
1448:
1413:
1364:
1321:
1286:
1278:
1251:
1243:
1216:
1090:. The pathological expansion of the CAG repeat region leads to an expanded
1065:
500:
335:
114:
1488:
1480:
1443:
1386:
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, et al. (May 2014).
1002:
997:
1657:
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007).
1590:
829:
810:
1504:
Olin KL, Potter-Perigo S, Barrett PH, Wight TN, Chait A (January 2001).
1674:
1191:"Junctophilins: a novel family of junctional membrane complex proteins"
234:
131:
81:
1313:
1064:
repeats involved in plasma membrane binding through interactions with
684:
301:
288:
200:
187:
89:
1538:
1026:
986:
1553:
650:
regulation of ryanodine-sensitive calcium-release channel activity
1613:
1229:
1189:
Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K (July 2000).
1018:
796:
751:
669:
665:
19:
509:
69:
1046:
970:
706:
1299:
1264:
1071:
JPH3 is primarily expressed in the brain, specifically in the
1503:
1717:
1709:
1576:
1022:
1454:
GeneReviews/NCBI/NIH/UW entry on
Huntington Disease-Like 2
1188:
1466:
1079:
and the stabilization of neuronal cellular architecture.
1388:"Polyglutamine (PolyQ) diseases: genetics to treatments"
325:
1342:
1029:
long and is located at chromosomal position 16q24.2.
490:
1267:
1232:
465:
dentate gyrus of hippocampal formation granule cell
1510:Arteriosclerosis, Thrombosis, and Vascular Biology
1132:
1130:
1128:
1111:
1109:
1107:
56:, CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3
272:
171:
1766:
1656:
1125:
1104:
1021:residing in humans that is encoded by the JPH3
615:release of sequestered calcium ion into cytosol
16:Protein-coding gene in the species Homo sapiens
1137:GRCm38: Ensembl release 89: ENSMUSG00000025318
1033:proteins are associated with the formation of
1749:
1385:
1182:
1116:GRCh38: Ensembl release 89: ENSG00000154118
1756:
1742:
610:regulation of neuronal synaptic plasticity
584:junctional sarcoplasmic reticulum membrane
1682:
1631:
1521:
1403:
1206:
1062:membrane occupation and recognition nexus
645:neuromuscular process controlling balance
1449:https://alphafold.ebi.ac.uk/entry/Q8WXH2
18:
1444:https://www.ncbi.nlm.nih.gov/gene/57338
1767:
277:
238:
233:
176:
135:
130:
1704:
13:
1459:
1088:Huntington's disease-like syndrome
620:calcium ion transport into cytosol
14:
1791:
1432:
655:regulation of synaptic plasticity
1708:
543:calcium-release channel activity
499:
261:
254:
248:
225:
160:
153:
147:
122:
1379:
1025:. The gene is approximately 97
1780:Human chromosome 16 gene stubs
1336:
1293:
1258:
1223:
1164:
1146:
1073:dorsolateral prefrontal cortex
594:integral component of membrane
574:endoplasmic reticulum membrane
510:More reference expression data
479:More reference expression data
461:Region I of hippocampus proper
399:dorsolateral prefrontal cortex
1:
1633:10.1016/j.febslet.2004.09.069
1208:10.1016/S1097-2765(05)00005-5
1097:
1035:junctional membrane complexes
246:
145:
1775:Genes on human chromosome 16
1728:. You can help Knowledge by
7:
589:junctional membrane complex
10:
1796:
1703:
1663:Molecular Systems Biology
1357:10.1016/j.arr.2018.10.004
1172:"Mouse PubMed Reference:"
1154:"Human PubMed Reference:"
1001:
996:
992:
985:
969:
963:Chr 8: 122.46 – 122.52 Mb
950:
935:
931:
906:
902:
895:
880:
876:
851:
847:
840:
827:
823:
808:
804:
795:
782:
778:
763:
759:
750:
737:
733:
718:
714:
705:
690:
683:
679:
663:
528:
524:
507:
498:
489:
476:
425:
416:
375:anterior cingulate cortex
363:
354:
324:
316:
312:
295:
282:
245:
224:
215:
211:
194:
181:
144:
121:
112:
108:
63:
60:
50:
43:
38:
34:
29:
1405:10.3727/096368914X678454
1523:10.1161/01.ATV.21.1.129
1345:Ageing Research Reviews
1279:10.1006/bbrc.2002.6649
1244:10.1006/bbrc.2000.3011
1084:polyglutamine diseases
1058:sarcoplasmic reticulum
956:Chr 16: 87.6 – 87.7 Mb
449:superior frontal gyrus
387:superior frontal gyrus
24:
1481:10.1007/s004390050476
1077:calcium ion signaling
1043:endoplasmic reticulum
569:endoplasmic reticulum
453:primary visual cortex
138:Chromosome 16 (human)
22:
1591:10.1212/wnl.58.6.965
1392:Cell Transplantation
635:exploration behavior
457:primary motor cortex
240:Chromosome 8 (mouse)
1302:Annals of Neurology
1092:polyglutamine tract
1716:This article on a
1675:10.1038/msb4100134
785:ENSMUSG00000025318
603:Biological process
557:Cellular component
548:molecular function
536:Molecular function
367:right frontal lobe
25:
1737:
1736:
1314:10.1002/ana.22598
1037:, which link the
1012:
1011:
1008:
1007:
981:
980:
946:
945:
925:
924:
891:
890:
870:
869:
836:
835:
817:
816:
791:
790:
772:
771:
746:
745:
727:
726:
675:
674:
520:
519:
516:
515:
485:
484:
472:
471:
437:perirhinal cortex
433:entorhinal cortex
410:
409:
403:prefrontal cortex
391:nucleus accumbens
383:entorhinal cortex
371:postcentral gyrus
308:
307:
207:
206:
1787:
1758:
1751:
1744:
1712:
1705:
1696:
1686:
1653:
1635:
1610:
1573:
1535:
1525:
1500:
1426:
1425:
1407:
1398:(4–5): 441–458.
1383:
1377:
1376:
1340:
1334:
1333:
1297:
1291:
1290:
1262:
1256:
1255:
1227:
1221:
1220:
1210:
1186:
1180:
1179:
1168:
1162:
1161:
1150:
1144:
1134:
1123:
1113:
994:
993:
965:
958:
941:
929:
928:
920:
900:
899:
896:RefSeq (protein)
886:
874:
873:
865:
845:
844:
821:
820:
802:
801:
776:
775:
757:
756:
731:
730:
712:
711:
681:
680:
526:
525:
512:
503:
496:
495:
481:
421:
419:Top expressed in
414:
413:
359:
357:Top expressed in
352:
351:
331:
330:
314:
313:
304:
291:
280:
265:
258:
252:
241:
229:
213:
212:
203:
190:
179:
164:
157:
151:
140:
126:
110:
109:
104:
102:JPH3 - orthologs
55:
48:
27:
26:
1795:
1794:
1790:
1789:
1788:
1786:
1785:
1784:
1765:
1764:
1763:
1762:
1701:
1699:
1626:(1–2): 93–100.
1542:Nature Genetics
1462:
1460:Further reading
1435:
1430:
1429:
1384:
1380:
1341:
1337:
1298:
1294:
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1228:
1224:
1187:
1183:
1170:
1169:
1165:
1152:
1151:
1147:
1135:
1126:
1114:
1105:
1100:
1039:plasma membrane
1003:View/Edit Mouse
998:View/Edit Human
961:
954:
951:Location (UCSC)
937:
916:
912:
908:
882:
861:
857:
853:
766:ENSG00000154118
659:
598:
564:plasma membrane
552:
508:
477:
468:
463:
459:
455:
451:
447:
445:cingulate gyrus
443:
439:
435:
431:
417:
406:
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393:
389:
385:
381:
377:
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369:
355:
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268:
267:
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259:
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216:Gene location (
198:
185:
177:
167:
166:
165:
158:
136:
113:Gene location (
64:
51:
44:
17:
12:
11:
5:
1793:
1783:
1782:
1777:
1761:
1760:
1753:
1746:
1738:
1735:
1734:
1713:
1698:
1697:
1654:
1611:
1585:(6): 965–967.
1574:
1548:(4): 377–378.
1536:
1516:(1): 129–135.
1501:
1475:(1): 114–122.
1469:Human Genetics
1463:
1461:
1458:
1457:
1456:
1451:
1446:
1441:
1434:
1433:External links
1431:
1428:
1427:
1378:
1335:
1308:(2): 245–257.
1292:
1273:(2): 318–324.
1257:
1238:(3): 920–927.
1222:
1195:Molecular Cell
1181:
1163:
1145:
1124:
1102:
1101:
1099:
1096:
1015:Junctophilin-3
1010:
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1006:
1005:
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989:
983:
982:
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388:
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348:
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328:
322:
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318:RNA expression
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119:
118:
106:
105:
62:
58:
57:
49:
41:
40:
36:
35:
32:
31:
23:Junctophilin-3
15:
9:
6:
4:
3:
2:
1792:
1781:
1778:
1776:
1773:
1772:
1770:
1759:
1754:
1752:
1747:
1745:
1740:
1739:
1733:
1731:
1727:
1723:
1722:chromosome 16
1719:
1714:
1711:
1707:
1706:
1702:
1694:
1690:
1685:
1680:
1676:
1672:
1668:
1664:
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1655:
1651:
1647:
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1629:
1625:
1621:
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1612:
1608:
1604:
1600:
1596:
1592:
1588:
1584:
1580:
1575:
1571:
1567:
1563:
1559:
1555:
1554:10.1038/ng760
1551:
1547:
1543:
1537:
1533:
1529:
1524:
1519:
1515:
1511:
1507:
1502:
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1319:
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1303:
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1103:
1095:
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1089:
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1078:
1074:
1069:
1067:
1066:phospholipids
1063:
1059:
1055:
1050:
1048:
1044:
1040:
1036:
1032:
1028:
1024:
1020:
1016:
1004:
999:
995:
991:
988:
984:
977:
975:
972:
968:
964:
960:
957:
953:
949:
942:
940:
934:
930:
927:
921:
919:
915:
911:
905:
901:
898:
894:
887:
885:
879:
875:
872:
866:
864:
860:
856:
850:
846:
843:
841:RefSeq (mRNA)
839:
832:
831:
826:
822:
819:
813:
812:
807:
803:
800:
798:
794:
787:
786:
781:
777:
774:
768:
767:
762:
758:
755:
753:
749:
742:
741:
736:
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729:
723:
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717:
713:
710:
708:
704:
701:
698:
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693:
689:
686:
682:
678:
671:
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648:
646:
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641:
638:
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633:
631:
628:
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623:
621:
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616:
613:
611:
608:
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602:
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582:
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567:
565:
562:
561:
559:
556:
555:
549:
546:
544:
541:
540:
538:
535:
534:
531:
530:Gene ontology
527:
523:
511:
506:
502:
497:
494:
492:
488:
480:
475:
464:
460:
456:
452:
448:
444:
441:dentate gyrus
440:
436:
432:
428:
427:
424:
420:
415:
412:
402:
398:
394:
390:
386:
382:
378:
374:
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366:
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358:
353:
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338:
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333:
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329:
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323:
319:
315:
311:
303:
298:
294:
290:
285:
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264:
257:
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244:
236:
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228:
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202:
197:
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99:
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91:
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83:
79:
75:
71:
67:
59:
54:
47:
42:
37:
33:
28:
21:
1730:expanding it
1715:
1700:
1666:
1662:
1623:
1620:FEBS Letters
1619:
1582:
1578:
1545:
1541:
1513:
1509:
1472:
1468:
1395:
1391:
1381:
1348:
1344:
1338:
1305:
1301:
1295:
1270:
1266:
1260:
1235:
1231:
1225:
1201:(1): 11–22.
1198:
1194:
1184:
1175:
1166:
1157:
1148:
1081:
1070:
1051:
1031:Junctophilin
1017:(JPH3) is a
1014:
1013:
936:
914:NP_001258534
910:NP_001258533
907:
881:
859:NM_001271605
855:NM_001271604
852:
828:
809:
783:
764:
738:
719:
699:
694:
341:
334:
300:122,521,015
287:122,456,362
61:External IDs
1054:endoplasmic
379:sural nerve
279:8|8 E1
199:87,698,156
186:87,601,835
39:Identifiers
1769:Categories
1351:: 99–108.
1143:, May 2017
1122:, May 2017
1098:References
640:locomotion
345:(ortholog)
82:HomoloGene
1720:on human
1669:(1): 89.
1579:Neurology
1041:with the
1027:kilobases
939:NP_065630
918:NP_065706
884:NM_020605
863:NM_020655
685:Orthologs
429:CA3 field
90:GeneCards
1693:17353931
1642:15527767
1607:34200149
1599:11914418
1570:23976552
1562:11694876
1532:11145944
1497:25999127
1422:27522175
1414:24816443
1373:53027229
1365:30355507
1322:22367996
1287:11906164
1252:10891348
1217:10949023
1139:–
1118:–
987:Wikidata
664:Sources:
630:learning
579:membrane
395:amygdala
1684:1847948
1489:9225980
1330:6432652
1141:Ensembl
1120:Ensembl
1047:neurons
1019:protein
797:UniProt
752:Ensembl
691:Species
670:QuickGO
320:pattern
178:16q24.2
78:1891497
46:Aliases
1691:
1681:
1648:
1640:
1605:
1597:
1568:
1560:
1530:
1495:
1487:
1420:
1412:
1371:
1363:
1328:
1320:
1285:
1250:
1215:
973:search
971:PubMed
830:Q9ET77
811:Q8WXH2
707:Entrez
625:memory
491:BioGPS
70:605268
1724:is a
1650:82568
1646:S2CID
1603:S2CID
1566:S2CID
1493:S2CID
1418:S2CID
1369:S2CID
1326:S2CID
740:57340
721:57338
700:Mouse
695:Human
666:Amigo
343:Mouse
336:Human
283:Start
218:Mouse
182:Start
115:Human
86:10762
1726:stub
1718:gene
1689:PMID
1638:PMID
1595:PMID
1558:PMID
1528:PMID
1485:PMID
1410:PMID
1361:PMID
1318:PMID
1283:PMID
1248:PMID
1213:PMID
1023:gene
326:Bgee
274:Band
235:Chr.
173:Band
132:Chr.
94:JPH3
66:OMIM
53:JPH3
30:JPH3
1679:PMC
1671:doi
1628:doi
1624:577
1587:doi
1550:doi
1518:doi
1477:doi
1473:100
1400:doi
1353:doi
1310:doi
1275:doi
1271:292
1240:doi
1236:273
1203:doi
296:End
195:End
98:OMA
74:MGI
1771::
1687:.
1677:.
1665:.
1661:.
1644:.
1636:.
1622:.
1618:.
1601:.
1593:.
1583:58
1581:.
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1546:29
1544:.
1526:.
1514:21
1512:.
1508:.
1491:.
1483:.
1471:.
1416:.
1408:.
1396:23
1394:.
1390:.
1367:.
1359:.
1349:48
1347:.
1324:.
1316:.
1306:71
1304:.
1281:.
1269:.
1246:.
1234:.
1211:.
1197:.
1193:.
1174:.
1156:.
1127:^
1106:^
1068:.
1049:.
668:/
302:bp
289:bp
201:bp
188:bp
96:;
92::
88:;
84::
80:;
76::
72:;
68::
1757:e
1750:t
1743:v
1732:.
1695:.
1673::
1667:3
1652:.
1630::
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1589::
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1552::
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1242::
1219:.
1205::
1199:6
1178:.
1160:.
1056:/
220:)
117:)
100::
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