242:
219:
116:
141:
248:
147:
1653:
1563:
Brusco, A.; Gellera, C.; Cagnoli, C.; Saluto, A.; Castucci, A.; Michielotto, C.; Fetoni, V.; Mariotti, C.; Migone, N.; Di Donato, S.; Taroni, F. (2004). "Molecular
Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection
1491:
Houlden, H.; Johnson, J.; Gardner-Thorpe, C.; Lashley, T.; Hernandez, D.; Worth, P.; Singleton, A. B.; Hilton, D. A.; Holton, J.; Revesz, T.; Davis, M. B.; Giunti, P.; Wood, N. W. (2007). "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia
1324:
Dgany, O.; Avidan, N.; Delaunay, J.; Krasnov, T.; Shalmon, L.; Shalev, H.; Eidelitz-Markus, T.; Kapelushnik, J.; Cattan, D.; Pariente, A.; Tulliez, M.; Crétien, A.; Schischmanoff, P. O.; Iolascon, A.; Fibach, E.; Koren, A.; Rössler, J.; Le Merrer, M.; Yaniv, I.; Zaizov, R.; Ben-Asher, E.; Olender,
1238:
Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW (December 2007). "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11".
1593:
Crockett, D. K.; Fillmore, G. C.; Elenitoba-Johnson, K. S. J.; Lim, M. S. (2005). "Analysis of phosphatase and tensin homolog tumor suppressor interacting proteins by in vitro and in silico proteomics".
1287:
Edener, U.; Kurth, I.; Meiner, A.; Hoffmann, F.; Hübner, C. A.; Bernard, V.; Gillessen-Kaesbach, G.; Zühlke, C. (2009). "Missense exchanges in the TTBK2 gene mutated in SCA11".
255:
154:
1454:
Xu, Q.; Li, X.; Wang, J.; Yi, J.; Lei, L.; Shen, L.; Jiang, H.; Xia, K.; Pan, Q.; Tang, B. (2009). "Spinocerebellar ataxia type 11 in the
Chinese Han population".
817:
798:
77:
1722:
1698:
1200:
1182:
1717:
1411:
Kitano-Takahashi, M.; Morita, H.; Kondo, S.; Tomizawa, K.; Kato, R.; Tanio, M.; Shirota, Y.; Takahashi, H.; Sugio, S.; Kohno, T. (2007).
241:
1040:
1033:
218:
1169:
1148:
1370:"Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3"
1123:
type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem.
140:
115:
1165:
1529:
Houlden, H.; Pagon, R. A.; Bird, T. D.; Dolan, C. R.; Stephens, K.; Adam, M. P. (1993). "Spinocerebellar Ataxia Type 11".
1218:
1144:
57:
254:
153:
1691:
247:
146:
862:
65:
1413:"Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein"
843:
1638:
1120:
1684:
1542:
129:
44:
1012:
1008:
957:
953:
1619:
1517:
1479:
1312:
1264:
89:
1016:
987:
961:
932:
1611:
1581:
1530:
1509:
1471:
1442:
1399:
1368:
Worth, P. F.; Giunti, P.; Gardner-Thorpe, C.; Dixon, P. H.; Davis, M. B.; Wood, N. W. (1999).
1356:
1304:
1256:
37:
1668:
1603:
1573:
1501:
1463:
1432:
1424:
1389:
1381:
1346:
1338:
1296:
1248:
334:
265:
209:
164:
85:
1555:
309:
1437:
1412:
1394:
1369:
1351:
1326:
732:
727:
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717:
712:
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631:
626:
621:
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611:
606:
601:
596:
591:
575:
570:
565:
560:
555:
550:
545:
540:
535:
530:
525:
1711:
1664:
512:
1623:
1521:
1316:
1268:
69:
327:
106:
1483:
93:
1327:"Congenital Dyserythropoietic Anemia Type I is Caused by Mutations in Codanin-1"
1205:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1187:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1108:
410:
1577:
1467:
1428:
1300:
226:
123:
73:
762:
470:
348:
293:
280:
192:
179:
81:
1615:
1607:
1585:
1534:
1513:
1475:
1446:
1403:
1360:
1308:
1260:
1080:
1075:
1116:
1064:
907:
888:
1505:
1252:
1112:
1096:
874:
829:
1104:
1048:
784:
1652:
1385:
1342:
747:
743:
1660:
1100:
61:
1639:
728:
negative regulation of protein localization to microtubule
317:
1672:
718:
cerebellar granule cell precursor tangential migration
482:
1325:
T.; Lancet, D.; Beckmann, J. S.; Tamary, H. (2002).
1001:
980:
946:
925:
698:
negative regulation of microtubule depolymerization
1161:
1159:
1157:
1140:
1138:
1136:
264:
163:
16:Protein-coding gene in the species Homo sapiens
1166:GRCm38: Ensembl release 89: ENSMUSG00000090100
1692:
8:
1145:GRCh38: Ensembl release 89: ENSG00000128881
1699:
1685:
758:
733:negative regulation of microtubule binding
688:ciliary basal body-plasma membrane docking
508:
305:
204:
101:
1436:
1393:
1350:
546:protein serine/threonine kinase activity
1132:
1103:. This gene encodes a serine-threonine
1099:in humans that is encoded by the TTBK2
1551:
1540:
1374:The American Journal of Human Genetics
1331:The American Journal of Human Genetics
18:
713:cerebellar granular layer development
693:microtubule cytoskeleton organization
269:
230:
225:
168:
127:
122:
7:
1649:
1647:
1219:"Entrez Gene: Tau tubulin kinase 2"
48:, SCA11, TTBK, tau tubulin kinase 2
1671:. You can help Knowledge (XXG) by
998:
977:
943:
922:
898:
879:
853:
834:
808:
789:
703:peptidyl-threonine phosphorylation
487:
441:central gray substance of midbrain
405:
343:
322:
14:
359:lateral nuclear group of thalamus
1651:
1417:Acta Crystallographica Section F
253:
246:
240:
217:
152:
145:
139:
114:
1107:that putatively phosphorylates
668:peptidyl-serine phosphorylation
1723:Human chromosome 15 gene stubs
471:More reference expression data
1:
238:
137:
1718:Genes on human chromosome 15
723:regulation of cell migration
673:smoothened signaling pathway
663:cell projection organization
576:microtubule plus-end binding
433:anterior horn of spinal cord
571:tau-protein kinase activity
391:superior vestibular nucleus
1739:
1646:
1564:in 225 Italian Families".
437:superior cervical ganglion
1578:10.1001/archneur.61.5.727
1468:10.1007/s10072-009-0129-4
1429:10.1107/S1744309107028783
1301:10.1007/s00415-009-5209-0
1201:"Mouse PubMed Reference:"
1183:"Human PubMed Reference:"
1079:
1074:
1070:
1063:
1047:
1041:Chr 2: 120.56 – 120.68 Mb
1028:
1005:
984:
973:
950:
929:
918:
905:
901:
886:
882:
873:
860:
856:
841:
837:
828:
815:
811:
796:
792:
783:
768:
761:
757:
741:
511:
507:
495:
490:
481:
468:
457:medial vestibular nucleus
417:
408:
355:
346:
316:
308:
304:
287:
274:
237:
216:
207:
203:
186:
173:
136:
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
1034:Chr 15: 42.74 – 42.92 Mb
678:regulation of cell shape
658:protein phosphorylation
617:ciliary transition zone
536:protein kinase activity
1608:10.1002/pmic.200401046
1550:Cite journal requires
1121:spinocerebellar ataxia
708:cerebellum development
449:deep cerebellar nuclei
1566:Archives of Neurology
1456:Neurological Sciences
395:primary visual cortex
130:Chromosome 15 (human)
1289:Journal of Neurology
1093:Tau tubulin kinase 2
526:transferase activity
429:facial motor nucleus
232:Chromosome 2 (mouse)
1119:in this gene cause
637:extracellular space
566:tau protein binding
453:trigeminal ganglion
1659:This article on a
1506:10.1038/ng.2007.43
1253:10.1038/ng.2007.43
863:ENSMUSG00000090100
646:Biological process
597:ciliary basal body
585:Cellular component
531:nucleotide binding
519:Molecular function
445:supraoptic nucleus
1680:
1679:
1500:(12): 1434–1436.
1295:(11): 1856–1859.
1247:(12): 1434–1436.
1090:
1089:
1086:
1085:
1059:
1058:
1024:
1023:
995:
994:
969:
968:
940:
939:
914:
913:
895:
894:
869:
868:
850:
849:
824:
823:
805:
804:
753:
752:
503:
502:
499:
498:
477:
476:
464:
463:
402:
401:
379:cerebellar vermis
375:postcentral gyrus
300:
299:
199:
198:
94:TTBK2 - orthologs
1730:
1701:
1694:
1687:
1655:
1648:
1627:
1602:(5): 1250–1262.
1589:
1559:
1553:
1548:
1546:
1538:
1525:
1487:
1450:
1440:
1407:
1397:
1364:
1354:
1337:(6): 1467–1474.
1320:
1273:
1272:
1235:
1229:
1228:
1226:
1225:
1215:
1209:
1208:
1197:
1191:
1190:
1179:
1173:
1163:
1152:
1142:
1072:
1071:
1043:
1036:
1019:
999:
990:
978:
974:RefSeq (protein)
964:
944:
935:
923:
899:
880:
854:
835:
809:
790:
759:
509:
488:
473:
413:
411:Top expressed in
406:
363:Brodmann area 23
351:
349:Top expressed in
344:
323:
306:
296:
283:
272:
257:
250:
244:
233:
221:
205:
195:
182:
171:
156:
149:
143:
132:
118:
102:
96:
47:
40:
19:
1738:
1737:
1733:
1732:
1731:
1729:
1728:
1727:
1708:
1707:
1706:
1705:
1644:
1635:
1630:
1592:
1562:
1549:
1539:
1528:
1494:Nature Genetics
1490:
1453:
1410:
1367:
1323:
1286:
1282:
1280:Further reading
1277:
1276:
1241:Nature Genetics
1237:
1236:
1232:
1223:
1221:
1217:
1216:
1212:
1199:
1198:
1194:
1181:
1180:
1176:
1164:
1155:
1143:
1134:
1129:
1081:View/Edit Mouse
1076:View/Edit Human
1039:
1032:
1029:Location (UCSC)
1015:
1011:
1007:
986:
960:
956:
952:
931:
844:ENSG00000128881
737:
683:cilium assembly
653:phosphorylation
641:
607:cell projection
580:
561:kinesin binding
551:protein binding
541:kinase activity
469:
460:
455:
451:
447:
443:
439:
435:
431:
427:
423:
409:
398:
393:
389:
385:
381:
377:
373:
369:
365:
361:
347:
291:
278:
270:
260:
259:
258:
251:
231:
208:Gene location (
190:
177:
169:
159:
158:
157:
150:
128:
105:Gene location (
56:
43:
36:
17:
12:
11:
5:
1736:
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1726:
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1720:
1710:
1709:
1704:
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1696:
1689:
1681:
1678:
1677:
1656:
1642:
1641:
1634:
1633:External links
1631:
1629:
1628:
1590:
1572:(5): 727–733.
1560:
1552:|journal=
1526:
1488:
1462:(1): 107–109.
1451:
1423:(7): 602–604.
1408:
1386:10.1086/302495
1380:(2): 420–426.
1365:
1343:10.1086/344781
1321:
1283:
1281:
1278:
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368:
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310:RNA expression
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1702:
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1683:
1682:
1676:
1674:
1670:
1666:
1665:chromosome 15
1662:
1657:
1654:
1650:
1645:
1640:
1637:
1636:
1632:
1625:
1621:
1617:
1613:
1609:
1605:
1601:
1597:
1591:
1587:
1583:
1579:
1575:
1571:
1567:
1561:
1557:
1544:
1536:
1532:
1527:
1523:
1519:
1515:
1511:
1507:
1503:
1499:
1495:
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1473:
1469:
1465:
1461:
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1422:
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1409:
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1401:
1396:
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1366:
1362:
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1322:
1318:
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1094:
1082:
1077:
1073:
1069:
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1055:
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1050:
1046:
1042:
1038:
1035:
1031:
1027:
1020:
1018:
1014:
1010:
1004:
1000:
997:
991:
989:
983:
979:
976:
972:
965:
963:
959:
955:
949:
945:
942:
936:
934:
928:
924:
921:
919:RefSeq (mRNA)
917:
910:
909:
904:
900:
897:
891:
890:
885:
881:
878:
876:
872:
865:
864:
859:
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846:
845:
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836:
833:
831:
827:
820:
819:
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800:
795:
791:
788:
786:
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779:
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771:
767:
764:
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749:
745:
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731:
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724:
721:
719:
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664:
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635:
633:
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628:
625:
623:
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603:
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593:
590:
589:
587:
584:
583:
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572:
569:
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562:
559:
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552:
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547:
544:
542:
539:
537:
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532:
529:
527:
524:
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521:
518:
517:
514:
513:Gene ontology
510:
506:
494:
489:
486:
484:
480:
472:
467:
456:
452:
448:
444:
440:
436:
432:
428:
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420:
419:
416:
412:
407:
404:
394:
390:
386:
383:Pars compacta
382:
378:
374:
371:parietal lobe
370:
366:
362:
358:
357:
354:
350:
345:
342:
341:
338:
336:
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329:
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315:
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303:
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290:
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267:
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211:
206:
202:
194:
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176:
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162:
155:
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142:
135:
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125:
121:
117:
112:
108:
103:
99:
95:
91:
87:
83:
79:
75:
71:
67:
63:
59:
51:
46:
39:
34:
29:
25:
20:
1673:expanding it
1658:
1643:
1599:
1595:
1569:
1565:
1543:cite journal
1497:
1493:
1459:
1455:
1420:
1416:
1377:
1373:
1334:
1330:
1292:
1288:
1244:
1240:
1233:
1222:. Retrieved
1213:
1204:
1195:
1186:
1177:
1092:
1091:
1013:NP_001020028
1009:NP_001020027
1006:
985:
958:NM_001024857
954:NM_001024856
951:
930:
906:
887:
861:
842:
816:
797:
777:
772:
627:cytoskeleton
425:spermatocyte
333:
326:
292:120,681,085
279:120,563,297
53:External IDs
556:ATP binding
271:2|2 E5
191:42,920,809
178:42,738,730
31:Identifiers
1712:Categories
1596:Proteomics
1492:type 11".
1224:2012-06-11
1172:, May 2017
1151:, May 2017
1127:References
1115:proteins.
337:(ortholog)
74:HomoloGene
1663:on human
1117:Mutations
1017:NP_542966
988:NP_775771
962:NM_080788
933:NM_173500
763:Orthologs
622:centriole
592:cytoplasm
421:spermatid
82:GeneCards
1624:45130615
1616:15717329
1586:15148151
1535:20301723
1522:20774216
1514:18037885
1476:19768375
1447:17620722
1404:10417284
1361:12434312
1317:10343192
1309:19533200
1269:20774216
1261:18037885
1168:–
1147:–
1065:Wikidata
742:Sources:
1438:2335129
1395:1377940
1170:Ensembl
1149:Ensembl
1113:tubulin
1097:protein
875:UniProt
830:Ensembl
769:Species
748:QuickGO
632:nucleus
602:cytosol
312:pattern
170:15q15.2
70:2155779
38:Aliases
1622:
1614:
1584:
1533:
1520:
1512:
1484:972027
1482:
1474:
1445:
1435:
1402:
1392:
1359:
1352:378595
1349:
1315:
1307:
1267:
1259:
1105:kinase
1051:search
1049:PubMed
908:Q3UVR3
889:Q6IQ55
818:140810
799:146057
785:Entrez
612:cilium
483:BioGPS
62:611695
1667:is a
1620:S2CID
1518:S2CID
1480:S2CID
1313:S2CID
1265:S2CID
1095:is a
778:Mouse
773:Human
744:Amigo
387:sperm
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
86:TTBK2
78:62795
45:TTBK2
22:TTBK2
1669:stub
1661:gene
1612:PMID
1582:PMID
1556:help
1531:PMID
1510:PMID
1472:PMID
1443:PMID
1400:PMID
1357:PMID
1305:PMID
1257:PMID
1111:and
1101:gene
367:pons
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
58:OMIM
1604:doi
1574:doi
1502:doi
1464:doi
1433:PMC
1425:doi
1390:PMC
1382:doi
1347:PMC
1339:doi
1297:doi
1293:256
1249:doi
1109:tau
491:n/a
288:End
187:End
90:OMA
66:MGI
1714::
1618:.
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1598:.
1580:.
1570:61
1568:.
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1545:}}
1541:{{
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1156:^
1135:^
746:/
294:bp
281:bp
193:bp
180:bp
88:;
84::
80:;
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68::
64:;
60::
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1693:t
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