244:
221:
118:
143:
250:
149:
2332:
1322:
Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome".
1746:
Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population".
257:
156:
1828:
785:
804:
79:
2401:
1531:"Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations"
2377:
1279:
2396:
1297:
1161:
243:
1376:"Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis"
1080:
1087:
220:
1266:
1245:
1821:
1449:
Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H (2006).
142:
117:
1262:
1241:
59:
2108:
256:
155:
2370:
1218:
1814:
249:
148:
2244:
1800:
849:
67:
1574:"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)"
830:
2363:
1790:
131:
1496:"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis"
1706:
1332:
1034:
46:
2312:
1947:
1652:"A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa"
1063:
1030:
1026:
1004:
1000:
996:
976:
947:
943:
921:
917:
913:
1796:
1771:
1356:
91:
1695:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
1059:
1055:
1022:
1012:
1008:
972:
968:
939:
929:
925:
1763:
1734:
1681:
1638:
1603:
1560:
1517:
1472:
1405:
1348:
39:
2347:
1431:. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
1755:
1724:
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1507:
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1395:
1387:
1340:
336:
267:
211:
166:
311:
87:
1710:
1336:
1676:
1651:
1555:
1530:
1400:
1375:
1729:
1694:
1598:
1573:
719:
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709:
704:
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694:
689:
684:
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674:
669:
664:
659:
654:
649:
644:
639:
634:
629:
624:
608:
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598:
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588:
583:
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568:
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558:
553:
548:
543:
527:
2390:
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514:
1775:
71:
2232:
2171:
1360:
329:
108:
95:
2098:
1302:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1284:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1667:
1512:
1495:
412:
1897:
1467:
1450:
1206:
1203:
1184:
1180:
228:
125:
75:
2225:
2220:
1617:"Complete sequencing and characterization of 21,243 full-length human cDNAs"
1195:
1188:
749:
472:
350:
295:
282:
194:
181:
83:
1767:
1738:
1719:
1685:
1642:
1607:
1564:
1521:
1476:
1409:
1352:
1451:"BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families"
1391:
1127:
1122:
2002:
1887:
1111:
894:
875:
1344:
1217:
Mutations in the TTC8 gene is one of 14 genes identified as causal for
2294:
2289:
2204:
2151:
2068:
1838:
1759:
1589:
1168:
1147:
861:
816:
1546:
2299:
2284:
2274:
2264:
2194:
2189:
2156:
2123:
2113:
2088:
2083:
2042:
1992:
1987:
1977:
1905:
1877:
1199:
1095:
771:
2331:
1374:
Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N (November 1999).
1806:
1633:
1616:
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2269:
2249:
2237:
2199:
2184:
2179:
2161:
2144:
2139:
2134:
2093:
2073:
2032:
2022:
1982:
1962:
1957:
1882:
1872:
1867:
1862:
1852:
734:
730:
2339:
2259:
2103:
2063:
2053:
2027:
2017:
2012:
2007:
1997:
1972:
1952:
1940:
1930:
1925:
1920:
1915:
1910:
1857:
1176:
1172:
1154:
63:
1810:
1424:
2058:
1693:
Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
319:
2351:
1572:
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
1791:
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl
Syndrome
484:
1494:
Nachury MV, Loktev AV, Zhang Q, et al. (2007).
2213:
2170:
2122:
2041:
1896:
1845:
1650:Riazuddin SA, Iqbal M, Wang Y, et al. (2010).
1529:Chung WK, Patki A, Matsuoka N, et al. (2009).
1048:
995:
961:
912:
1615:Ota T, Suzuki Y, Nishikawa T, et al. (2004).
1258:
1256:
1254:
1237:
1235:
1233:
675:camera-type eye photoreceptor cell differentiation
710:inner ear receptor cell stereocilium organization
630:establishment of anatomical structure orientation
266:
165:
1425:"OMIM entry #209900 Bardet-Biedl Syndrome; BBS"
50:, BBS8, RP51, tetratricopeptide repeat domain 8
16:Protein-coding gene in the species Homo sapiens
1317:
1315:
1313:
1311:
1263:GRCm38: Ensembl release 89: ENSMUSG00000021013
715:multi-ciliated epithelial cell differentiation
2371:
1822:
8:
1242:GRCh38: Ensembl release 89: ENSG00000165533
2378:
2364:
1829:
1815:
1807:
992:
909:
745:
510:
307:
206:
103:
1799:at the U.S. National Library of Medicine
1728:
1718:
1675:
1632:
1597:
1554:
1511:
1466:
1399:
1229:
720:protein localization to plasma membrane
455:paraventricular nucleus of hypothalamus
670:negative regulation of GTPase activity
20:
271:
232:
227:
170:
129:
124:
7:
2328:
2326:
1429:Online Mendelian Inheritance in Man
690:regulation of stress fiber assembly
2350:. You can help Knowledge (XXG) by
1045:
958:
885:
866:
840:
821:
795:
776:
700:regulation of protein localization
489:
407:
345:
324:
14:
1150:that in humans is encoded by the
1140:Tetratricopeptide repeat domain 8
2330:
1194:TTC8 is located in the cilia of
705:establishment of planar polarity
459:dorsomedial hypothalamic nucleus
255:
248:
242:
219:
154:
147:
141:
116:
609:photoreceptor connecting cilium
2402:Human chromosome 14 gene stubs
1183:. PCM1 in turn is involved in
473:More reference expression data
1:
695:multicellular organism growth
594:microtubule organizing center
240:
139:
2397:Genes on human chromosome 14
1699:Proc. Natl. Acad. Sci. U.S.A
640:cell projection organization
660:sensory perception of smell
397:stromal cell of endometrium
2418:
2325:
1668:10.1016/j.ajhg.2010.04.001
1513:10.1016/j.cell.2007.03.053
665:olfactory bulb development
650:non-motile cilium assembly
2308:
1468:10.1007/s10038-005-0320-2
1298:"Mouse PubMed Reference:"
1280:"Human PubMed Reference:"
1126:
1121:
1117:
1110:
1094:
1075:
1052:
1019:
988:
965:
936:
905:
892:
888:
873:
869:
860:
847:
843:
828:
824:
815:
802:
798:
783:
779:
770:
755:
748:
744:
728:
513:
509:
497:
492:
483:
470:
419:
410:
357:
348:
318:
310:
306:
289:
276:
239:
218:
209:
205:
188:
175:
138:
115:
106:
102:
57:
54:
44:
37:
32:
28:
23:
2245:intraflagellar transport
1801:Medical Subject Headings
1167:TTC8 is associated with
1088:Chr 12: 98.89 – 98.95 Mb
1081:Chr 14: 88.82 – 88.88 Mb
685:fat cell differentiation
680:renal tubule development
1423:Hamosh A (2012-11-02).
1144:Bardet–Biedl syndrome 8
1720:10.1073/pnas.242603899
423:neural layer of retina
1392:10.1083/jcb.147.5.969
1219:Bardet–Biedl syndrome
1213:Clinical significance
1142:(TTC8) also known as
234:Chromosome 12 (mouse)
132:Chromosome 14 (human)
427:olfactory epithelium
369:right adrenal cortex
1797:TTC8 protein, human
1711:2002PNAS...9916899M
1345:10.1038/nature02030
1337:2003Natur.425..628A
1187:replication during
393:left adrenal cortex
365:islet of Langerhans
2338:This article on a
1760:10.1002/humu.21040
1590:10.1101/gr.2596504
850:ENSMUSG00000021013
635:sensory processing
618:Biological process
549:ciliary basal body
537:Cellular component
521:Molecular function
389:left adrenal gland
385:anterior pituitary
373:right uterine tube
2359:
2358:
2320:
2319:
2131:outer dynein arms
1705:(26): 16899–903.
1656:Am. J. Hum. Genet
1547:10.1159/000181158
1137:
1136:
1133:
1132:
1106:
1105:
1071:
1070:
1042:
1041:
984:
983:
955:
954:
901:
900:
882:
881:
856:
855:
837:
836:
811:
810:
792:
791:
740:
739:
625:protein transport
604:non-motile cilium
505:
504:
501:
500:
479:
478:
466:
465:
404:
403:
302:
301:
201:
200:
2409:
2380:
2373:
2366:
2334:
2327:
2050:connecting cilia
1831:
1824:
1817:
1808:
1779:
1742:
1732:
1722:
1689:
1679:
1646:
1636:
1611:
1601:
1568:
1558:
1525:
1515:
1481:
1480:
1470:
1446:
1440:
1439:
1437:
1436:
1420:
1414:
1413:
1403:
1371:
1365:
1364:
1331:(6958): 628–33.
1319:
1306:
1305:
1294:
1288:
1287:
1276:
1270:
1260:
1249:
1239:
1119:
1118:
1090:
1083:
1066:
1046:
1037:
993:
989:RefSeq (protein)
979:
959:
950:
910:
886:
867:
841:
822:
796:
777:
746:
589:ciliary membrane
511:
490:
475:
431:genital tubercle
415:
413:Top expressed in
408:
353:
351:Top expressed in
346:
325:
308:
298:
285:
274:
259:
252:
246:
235:
223:
207:
197:
184:
173:
158:
151:
145:
134:
120:
104:
98:
96:TTC8 - orthologs
49:
42:
21:
2417:
2416:
2412:
2411:
2410:
2408:
2407:
2406:
2387:
2386:
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2384:
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2321:
2316:
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2209:
2166:
2118:
2037:
1892:
1841:
1835:
1787:
1782:
1745:
1692:
1649:
1614:
1584:(10B): 2121–7.
1571:
1528:
1493:
1489:
1487:Further reading
1484:
1448:
1447:
1443:
1434:
1432:
1422:
1421:
1417:
1373:
1372:
1368:
1321:
1320:
1309:
1296:
1295:
1291:
1278:
1277:
1273:
1261:
1252:
1240:
1231:
1227:
1215:
1165:
1128:View/Edit Mouse
1123:View/Edit Human
1086:
1079:
1076:Location (UCSC)
1062:
1058:
1054:
1033:
1029:
1025:
1021:
1015:
1011:
1007:
1003:
999:
975:
971:
967:
946:
942:
938:
932:
928:
924:
920:
916:
831:ENSG00000165533
724:
645:cilium assembly
613:
569:cell projection
564:plasma membrane
532:
528:protein binding
471:
462:
457:
453:
449:
445:
441:
439:arcuate nucleus
437:
435:median eminence
433:
429:
425:
411:
400:
395:
391:
387:
383:
379:
377:pituitary gland
375:
371:
367:
363:
349:
293:
280:
272:
262:
261:
260:
253:
233:
210:Gene location (
192:
179:
171:
161:
160:
159:
152:
130:
107:Gene location (
58:
45:
38:
17:
12:
11:
5:
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2404:
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2025:
2020:
2015:
2010:
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1995:
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1804:
1794:
1786:
1785:External links
1783:
1781:
1780:
1754:(7): E737–46.
1743:
1690:
1647:
1634:10.1038/ng1285
1612:
1569:
1541:(3): 193–205.
1526:
1506:(6): 1201–13.
1490:
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1485:
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1482:
1441:
1415:
1366:
1307:
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1035:NP_001275710.1
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447:tail of embryo
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312:RNA expression
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2:
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2369:
2367:
2362:
2361:
2355:
2353:
2349:
2345:
2344:chromosome 14
2341:
2336:
2333:
2329:
2324:
2315:
2314:
2307:
2301:
2298:
2296:
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2276:
2273:
2271:
2268:
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2258:
2255:
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2251:
2248:
2246:
2243:
2242:
2239:
2236:
2234:
2231:
2230:
2227:
2224:
2222:
2219:
2218:
2216:
2212:
2206:
2203:
2201:
2198:
2196:
2193:
2191:
2188:
2186:
2183:
2181:
2178:
2177:
2175:
2173:
2172:Radial spokes
2169:
2163:
2160:
2158:
2155:
2153:
2150:
2149:
2146:
2143:
2141:
2138:
2136:
2133:
2130:
2129:
2127:
2125:
2121:
2115:
2112:
2110:
2107:
2105:
2102:
2100:
2097:
2095:
2092:
2090:
2087:
2085:
2082:
2080:primary cilia
2079:
2078:
2075:
2072:
2070:
2067:
2065:
2062:
2060:
2057:
2055:
2052:
2049:
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2044:
2040:
2034:
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2029:
2026:
2024:
2021:
2019:
2016:
2014:
2011:
2009:
2006:
2004:
2001:
1999:
1996:
1994:
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1971:
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1924:
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1907:
1904:
1903:
1901:
1899:
1895:
1889:
1886:
1884:
1881:
1879:
1876:
1874:
1871:
1869:
1866:
1864:
1861:
1859:
1856:
1854:
1851:
1850:
1848:
1844:
1840:
1832:
1827:
1825:
1820:
1818:
1813:
1812:
1809:
1802:
1798:
1795:
1792:
1789:
1788:
1784:
1777:
1773:
1769:
1765:
1761:
1757:
1753:
1749:
1744:
1740:
1736:
1731:
1726:
1721:
1716:
1712:
1708:
1704:
1700:
1696:
1691:
1687:
1683:
1678:
1673:
1669:
1665:
1662:(5): 805–12.
1661:
1657:
1653:
1648:
1644:
1640:
1635:
1630:
1626:
1622:
1618:
1613:
1609:
1605:
1600:
1595:
1591:
1587:
1583:
1579:
1575:
1570:
1566:
1562:
1557:
1552:
1548:
1544:
1540:
1536:
1532:
1527:
1523:
1519:
1514:
1509:
1505:
1501:
1497:
1492:
1491:
1486:
1478:
1474:
1469:
1464:
1460:
1456:
1455:J. Hum. Genet
1452:
1445:
1442:
1430:
1426:
1419:
1416:
1411:
1407:
1402:
1397:
1393:
1389:
1386:(5): 969–80.
1385:
1381:
1377:
1370:
1367:
1362:
1358:
1354:
1350:
1346:
1342:
1338:
1334:
1330:
1326:
1318:
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1299:
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1268:
1264:
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1236:
1234:
1230:
1224:
1222:
1220:
1212:
1210:
1208:
1205:
1201:
1197:
1192:
1190:
1186:
1182:
1178:
1174:
1170:
1169:gamma-tubulin
1163:
1160:
1158:
1156:
1153:
1149:
1145:
1141:
1129:
1124:
1120:
1116:
1113:
1109:
1102:
1100:
1097:
1093:
1089:
1085:
1082:
1078:
1074:
1067:
1065:
1061:
1057:
1051:
1047:
1044:
1038:
1036:
1032:
1028:
1024:
1018:
1014:
1010:
1006:
1002:
998:
994:
991:
987:
980:
978:
974:
970:
964:
960:
957:
951:
949:
945:
941:
935:
931:
927:
923:
919:
915:
911:
908:
906:RefSeq (mRNA)
904:
897:
896:
891:
887:
884:
878:
877:
872:
868:
865:
863:
859:
852:
851:
846:
842:
839:
833:
832:
827:
823:
820:
818:
814:
807:
806:
801:
797:
794:
788:
787:
782:
778:
775:
773:
769:
766:
763:
761:
758:
754:
751:
747:
743:
736:
732:
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721:
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691:
688:
686:
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678:
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666:
663:
661:
658:
656:
655:axon guidance
653:
651:
648:
646:
643:
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638:
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633:
631:
628:
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623:
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620:
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582:
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550:
547:
545:
542:
541:
539:
536:
535:
529:
526:
525:
523:
520:
519:
516:
515:Gene ontology
512:
508:
496:
491:
488:
486:
482:
474:
469:
458:
454:
450:
446:
442:
438:
434:
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388:
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309:
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297:
292:
288:
284:
279:
269:
265:
258:
251:
245:
238:
230:
226:
222:
217:
213:
208:
204:
196:
191:
187:
183:
178:
168:
164:
157:
150:
144:
137:
133:
127:
123:
119:
114:
110:
105:
101:
97:
93:
89:
85:
81:
77:
73:
69:
65:
61:
53:
48:
41:
36:
31:
27:
22:
19:
2352:expanding it
2337:
2322:
2310:
1935:
1846:Nephrocystin
1751:
1747:
1702:
1698:
1659:
1655:
1624:
1620:
1581:
1577:
1538:
1534:
1503:
1499:
1458:
1454:
1444:
1433:. Retrieved
1428:
1418:
1383:
1380:J. Cell Biol
1379:
1369:
1328:
1324:
1301:
1292:
1283:
1274:
1216:
1193:
1189:ciliogenesis
1166:
1151:
1143:
1139:
1138:
1064:NP_001351307
1053:
1031:NP_001353465
1027:NP_001353464
1020:
1005:NP_001275712
1001:NP_001275711
997:NP_001275710
977:NM_001364378
966:
948:NM_001366536
944:NM_001366535
937:
922:NM_001288783
918:NM_001288782
914:NM_001288781
893:
874:
848:
829:
803:
784:
764:
759:
579:cytoskeleton
443:pineal gland
335:
328:
273:12|12 E
55:External IDs
18:
1627:(1): 40–5.
1461:(1): 81–4.
381:right ovary
294:98,949,497
281:98,886,833
193:88,881,078
180:88,824,153
33:Identifiers
2391:Categories
2313:ciliopathy
2311:see also:
1898:Basal body
1748:Hum. Mutat
1621:Nat. Genet
1578:Genome Res
1535:Hum. Hered
1435:2013-09-04
1269:, May 2017
1248:, May 2017
1225:References
1207:epithelium
1196:spermatids
1185:centriolar
1181:centrosome
559:centrosome
361:left ovary
339:(ortholog)
76:HomoloGene
2342:on human
2221:cytoplasm
1948:chaperone
1204:bronchial
1060:NP_938053
1056:NP_083829
1023:NP_938052
1013:NP_938051
1009:NP_653197
973:NM_198311
969:NM_029553
940:NM_198310
930:NM_198309
926:NM_144596
750:Orthologs
544:cytoplasm
84:GeneCards
2003:RPGRIP1L
1888:RPGRIP1L
1839:proteins
1837:Ciliary
1776:11446097
1768:19402160
1739:12477932
1686:20451172
1643:14702039
1608:15489334
1565:19077438
1522:17574030
1477:16308660
1410:10579718
1353:14520415
1265:–
1244:–
1162:Function
1112:Wikidata
729:Sources:
584:membrane
451:habenula
2295:TMEM216
2290:SDCCAG8
2233:nucleus
2205:RSPH10B
2152:axoneme
2069:RPGRIP1
1707:Bibcode
1677:2869005
1556:2715950
1401:2169353
1361:4310157
1333:Bibcode
1267:Ensembl
1246:Ensembl
1209:cells.
1179:in the
1148:protein
862:UniProt
817:Ensembl
756:Species
735:QuickGO
554:cytosol
314:pattern
172:14q31.3
72:1923510
40:Aliases
2300:TXNDC3
2285:LRRC50
2275:INPP5E
2265:ARL13B
2195:RSPH6A
2190:RSPH4A
2157:DNAH11
2124:Dynein
2114:TMEM67
2089:INPP5E
2084:ARL13B
1993:CEP290
1988:CC2D2A
1978:TRIM32
1906:BBsome
1878:CEP290
1803:(MeSH)
1774:
1766:
1737:
1730:139241
1727:
1684:
1674:
1641:
1606:
1599:528928
1596:
1563:
1553:
1520:
1475:
1408:
1398:
1359:
1351:
1325:Nature
1202:, and
1200:retina
1175:, and
1098:search
1096:PubMed
895:Q8VD72
876:Q8TAM2
786:123016
772:Entrez
599:BBSome
574:cilium
485:BioGPS
64:608132
2346:is a
2280:KIF3A
2270:BRCC3
2256:other
2250:IFT80
2238:GLIS2
2214:Other
2200:RSPH9
2185:RSPH3
2180:RSPH1
2162:DNAI1
2145:DNAL1
2140:DNAI2
2135:DNAH5
2099:PKHD1
2094:IQCB1
2074:TULP1
2043:Cilia
2033:NPHP1
2023:NPHP4
1983:ALMS1
1969:Other
1963:BBS12
1958:BBS10
1883:GLIS2
1873:IQCB1
1868:NPHP4
1863:NPHP3
1853:NPHP1
1772:S2CID
1357:S2CID
1146:is a
805:76260
765:Mouse
760:Human
731:Amigo
337:Mouse
330:Human
277:Start
212:Mouse
176:Start
109:Human
80:14988
2348:stub
2340:gene
2260:AHI1
2109:PKD2
2104:PKD1
2064:RPGR
2054:LCA5
2028:NEK8
2018:INVS
2013:AHI1
2008:OFD1
1998:MKS1
1973:ARL6
1953:MKKS
1941:BBS9
1936:TTC8
1931:BBS7
1926:BBS5
1921:BBS4
1916:BBS2
1911:BBS1
1858:INVS
1764:PMID
1735:PMID
1682:PMID
1639:PMID
1604:PMID
1561:PMID
1518:PMID
1500:Cell
1473:PMID
1406:PMID
1349:PMID
1177:PCM1
1173:BBS4
1155:gene
1152:TTC8
320:Bgee
268:Band
229:Chr.
167:Band
126:Chr.
88:TTC8
60:OMIM
47:TTC8
24:TTC8
2226:KTU
2059:RP1
1756:doi
1725:PMC
1715:doi
1672:PMC
1664:doi
1629:doi
1594:PMC
1586:doi
1551:PMC
1543:doi
1508:doi
1504:129
1463:doi
1396:PMC
1388:doi
1384:147
1341:doi
1329:425
493:n/a
290:End
189:End
92:OMA
68:MGI
2393::
1770:.
1762:.
1752:30
1750:.
1733:.
1723:.
1713:.
1703:99
1701:.
1697:.
1680:.
1670:.
1660:86
1658:.
1654:.
1637:.
1625:36
1623:.
1619:.
1602:.
1592:.
1582:14
1580:.
1576:.
1559:.
1549:.
1539:67
1537:.
1533:.
1516:.
1502:.
1498:.
1471:.
1459:51
1457:.
1453:.
1427:.
1404:.
1394:.
1382:.
1378:.
1355:.
1347:.
1339:.
1327:.
1310:^
1300:.
1282:.
1253:^
1232:^
1221:.
1198:,
1191:.
1171:,
1157:.
733:/
296:bp
283:bp
195:bp
182:bp
90:;
86::
82:;
78::
74:;
70::
66:;
62::
2379:e
2372:t
2365:v
2354:.
1830:e
1823:t
1816:v
1793:a
1778:.
1758::
1741:.
1717::
1709::
1688:.
1666::
1645:.
1631::
1610:.
1588::
1567:.
1545::
1524:.
1510::
1479:.
1465::
1438:.
1412:.
1390::
1363:.
1343::
1335::
1304:.
1286:.
214:)
111:)
94::
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