242:
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1649:
Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF (Apr 1997). "Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21".
1872:
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P,
1521:
Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC (Jun 2001). "Identification of the gene that, when mutated, causes the human obesity
1486:
Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (Jan 1995). "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15".
1877:, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network".
1835:
Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y (June 2004). "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)".
255:
154:
1975:
1043:
77:
1024:
2548:
1800:
Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004).
1582:
Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004).
2524:
1802:"The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression"
1584:"The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression"
1468:
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1679:
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (Jul 2002).
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1961:
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146:
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1088:
65:
1759:"Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique"
1069:
1356:
1681:"BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance"
2510:
1929:
129:
1886:
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89:
1724:"The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene"
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1628:
Haftek J, Krawczykowa Z, Stankiewicz A, Araszkiewicz H, GoĹ› R, Kasprzak H (June 1975). "".
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National Center for
Biotechnology Information, U.S. National Library of Medicine
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National Center for
Biotechnology Information, U.S. National Library of Medicine
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Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC (Oct 2002).
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negative regulation of appetite by leptin-mediated signaling pathway
1953:
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2057:
2004:
1337:
714:
regulation of cilium beat frequency involved in ciliary motility
61:
1957:
2205:
508:
1351:. Mutations in this gene have been observed in patients with
1757:
Hoskins BE, Thorn A, Scambler PJ, Beales PL (August 2003).
317:
2498:
909:
negative regulation of systemic arterial blood pressure
1930:
GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl
Syndrome
482:
864:
positive regulation of multicellular organism growth
729:
negative regulation of actin filament polymerization
2360:
2317:
2269:
2188:
2043:
1992:
1239:
1210:
1180:
1151:
794:
protein localization to photoreceptor outer segment
1429:
1427:
1425:
1408:
1406:
1404:
264:
163:
1355:type 4. The encoded protein may play a role in
16:Protein-coding gene in the species Homo sapiens
1434:GRCm38: Ensembl release 89: ENSMUSG00000025235
2518:
1969:
774:photoreceptor cell outer segment organization
8:
1569:"Entrez Gene: BBS4 Bardet-Biedl syndrome 4"
1413:GRCh38: Ensembl release 89: ENSG00000140463
1343:This gene encodes a protein which contains
2525:
2511:
1976:
1962:
1954:
984:
929:maintenance of protein location in nucleus
524:
305:
204:
101:
1817:
1774:
1739:
1704:
1599:
1563:
1561:
1349:O-linked N-acetylglucosamine transferase
899:regulation of non-motile cilium assembly
1400:
889:positive regulation of cilium assembly
834:negative regulation of GTPase activity
779:negative regulation of gene expression
18:
924:microtubule cytoskeleton organization
809:regulation of lipid metabolic process
269:
230:
225:
168:
127:
122:
7:
2475:
2473:
939:microtubule anchoring at centrosome
789:regulation of stress fiber assembly
2497:. You can help Knowledge (XXG) by
1685:American Journal of Human Genetics
1236:
1207:
1177:
1148:
1124:
1105:
1079:
1060:
1034:
1015:
884:protein localization to centrosome
487:
405:
343:
322:
14:
1333:that in humans is encoded by the
744:leptin-mediated signaling pathway
699:protein localization to organelle
2477:
498:
491:
449:dorsomedial hypothalamic nucleus
253:
246:
240:
217:
152:
145:
139:
114:
643:photoreceptor connecting cilium
2549:Human chromosome 15 gene stubs
894:photoreceptor cell maintenance
844:protein localization to cilium
784:ventricular system development
509:More reference expression data
471:More reference expression data
1:
648:microtubule organizing center
238:
137:
2544:Genes on human chromosome 15
1873:Sikorski RS, Vandenhaute J,
1849:10.1080/10425170410001679165
1741:10.1001/archopht.120.10.1364
854:retinal rod cell development
839:cell projection organization
869:cerebral cortex development
804:sensory perception of smell
623:photoreceptor outer segment
613:photoreceptor inner segment
375:right lobe of thyroid gland
2565:
2472:
1946:gene details page in the
1347:repeats (TPR), similar to
954:non-motile cilium assembly
542:microtubule motor activity
387:left lobe of thyroid gland
2455:
1728:Archives of Ophthalmology
1469:"Mouse PubMed Reference:"
1451:"Human PubMed Reference:"
1313:
1308:
1304:
1297:
1281:
1262:
1243:
1214:
1203:
1184:
1155:
1144:
1131:
1127:
1112:
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1099:
1086:
1082:
1067:
1063:
1054:
1041:
1037:
1022:
1018:
1009:
994:
987:
983:
967:
724:regulation of cytokinesis
527:
523:
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417:
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186:
173:
136:
113:
104:
100:
55:
52:
48:, Bardet-Biedl syndrome 4
42:
35:
30:
26:
21:
2392:intraflagellar transport
1488:Human Molecular Genetics
1268:Chr 15: 72.69 – 72.74 Mb
919:fat cell differentiation
1383:BBS4 has been shown to
1327:Bardet–Biedl syndrome 4
1275:Chr 9: 59.23 – 59.26 Mb
914:hippocampus development
764:intracellular transport
638:ciliary transition zone
603:pericentriolar material
1664:10.1006/geno.1997.4613
1357:pigmentary retinopathy
445:neural layer of retina
1353:Bardet–Biedl syndrome
859:spermatid development
552:alpha-tubulin binding
130:Chromosome 15 (human)
1940:genome location and
934:striatum development
849:melanosome transport
749:dendrite development
739:response to stimulus
719:protein localization
633:centriolar satellite
562:beta-tubulin binding
453:facial motor nucleus
441:olfactory epithelium
232:Chromosome 9 (mouse)
1948:UCSC Genome Browser
1899:10.1038/nature04209
1891:2005Natur.437.1173R
949:brain morphogenesis
819:neural tube closure
754:mitotic cytokinesis
704:fat pad development
271:9 B|9 32.01 cM
2485:This article on a
1776:10.1002/humu.10241
1373:mental retardation
1089:ENSMUSG00000025235
904:response to leptin
824:retina homeostasis
759:sensory processing
692:Biological process
583:ciliary basal body
571:Cellular component
535:Molecular function
457:epithelium of lens
371:anterior pituitary
359:right uterine tube
2506:
2505:
2467:
2466:
2278:outer dynein arms
1500:10.1093/hmg/4.1.9
1371:malformation and
1345:tetratricopeptide
1324:
1323:
1320:
1319:
1293:
1292:
1258:
1257:
1233:
1232:
1199:
1198:
1174:
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1120:
1095:
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1050:
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978:
944:visual perception
874:protein transport
683:non-motile cilium
519:
518:
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477:
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463:
402:
401:
300:
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199:
198:
2556:
2527:
2520:
2513:
2481:
2474:
2197:connecting cilia
1978:
1971:
1964:
1955:
1918:
1885:(7062): 1173–8.
1868:
1831:
1821:
1796:
1778:
1753:
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1675:
1645:
1614:
1613:
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1579:
1573:
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1556:
1555:
1522:syndrome BBS4".
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1228:
1208:
1204:RefSeq (protein)
1194:
1178:
1169:
1149:
1125:
1106:
1080:
1061:
1035:
1016:
985:
959:centrosome cycle
814:face development
769:neuron migration
653:ciliary membrane
547:dynactin binding
525:
511:
502:
495:
488:
473:
433:secondary oocyte
413:
411:Top expressed in
406:
379:ventricular zone
367:secondary oocyte
351:
349:Top expressed in
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96:
94:BBS4 - orthologs
47:
40:
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1806:Nature Genetics
1799:
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1623:
1621:Further reading
1618:
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1588:Nature Genetics
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1524:Nature Genetics
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1402:
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1381:
1315:View/Edit Mouse
1310:View/Edit Human
1273:
1266:
1263:Location (UCSC)
1249:
1245:
1224:
1220:
1216:
1190:
1186:
1165:
1161:
1157:
1070:ENSG00000140463
963:
879:social behavior
709:cilium assembly
687:
618:plasma membrane
593:cell projection
566:
557:protein binding
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105:Gene location (
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1924:External links
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1819:10.1038/ng1352
1797:
1763:Human Mutation
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1734:(10): 1364–7.
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1697:10.1086/341031
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829:adult behavior
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421:primary oocyte
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310:RNA expression
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54:
50:
49:
41:
33:
32:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
2561:
2550:
2547:
2545:
2542:
2541:
2539:
2528:
2523:
2521:
2516:
2514:
2509:
2508:
2502:
2500:
2496:
2492:
2491:chromosome 15
2488:
2483:
2480:
2476:
2471:
2462:
2461:
2454:
2448:
2445:
2443:
2440:
2438:
2435:
2433:
2430:
2428:
2425:
2423:
2420:
2418:
2415:
2413:
2410:
2408:
2405:
2402:
2401:
2398:
2395:
2393:
2390:
2389:
2386:
2383:
2381:
2378:
2377:
2374:
2371:
2369:
2366:
2365:
2363:
2359:
2353:
2350:
2348:
2345:
2343:
2340:
2338:
2335:
2333:
2330:
2328:
2325:
2324:
2322:
2320:
2319:Radial spokes
2316:
2310:
2307:
2305:
2302:
2300:
2297:
2296:
2293:
2290:
2288:
2285:
2283:
2280:
2277:
2276:
2274:
2272:
2268:
2262:
2259:
2257:
2254:
2252:
2249:
2247:
2244:
2242:
2239:
2237:
2234:
2232:
2229:
2227:primary cilia
2226:
2225:
2222:
2219:
2217:
2214:
2212:
2209:
2207:
2204:
2202:
2199:
2196:
2195:
2193:
2191:
2187:
2181:
2178:
2176:
2173:
2171:
2168:
2166:
2163:
2161:
2158:
2156:
2153:
2151:
2148:
2146:
2143:
2141:
2138:
2136:
2133:
2131:
2128:
2126:
2123:
2121:
2118:
2115:
2114:
2111:
2108:
2106:
2103:
2101:
2098:
2096:
2093:
2092:
2089:
2086:
2084:
2081:
2079:
2076:
2074:
2071:
2069:
2066:
2064:
2061:
2059:
2056:
2054:
2051:
2050:
2048:
2046:
2042:
2036:
2033:
2031:
2028:
2026:
2023:
2021:
2018:
2016:
2013:
2011:
2008:
2006:
2003:
2001:
1998:
1997:
1995:
1991:
1987:
1979:
1974:
1972:
1967:
1965:
1960:
1959:
1956:
1949:
1945:
1944:
1939:
1938:
1933:
1931:
1928:
1927:
1923:
1916:
1912:
1908:
1904:
1900:
1896:
1892:
1888:
1884:
1880:
1876:
1870:
1866:
1862:
1858:
1854:
1850:
1846:
1842:
1838:
1833:
1829:
1825:
1820:
1815:
1812:(5): 462–70.
1811:
1807:
1803:
1798:
1794:
1790:
1786:
1782:
1777:
1772:
1768:
1764:
1760:
1755:
1751:
1747:
1742:
1737:
1733:
1729:
1725:
1720:
1716:
1712:
1707:
1702:
1698:
1694:
1690:
1686:
1682:
1677:
1673:
1669:
1665:
1661:
1657:
1653:
1647:
1643:
1639:
1635:
1631:
1630:Klinika Oczna
1626:
1625:
1620:
1611:
1607:
1602:
1597:
1594:(5): 462–70.
1593:
1589:
1585:
1578:
1575:
1570:
1564:
1562:
1558:
1553:
1549:
1545:
1541:
1537:
1536:10.1038/88925
1533:
1530:(2): 188–91.
1529:
1525:
1517:
1514:
1509:
1505:
1501:
1497:
1493:
1489:
1482:
1479:
1474:
1470:
1464:
1461:
1456:
1452:
1446:
1443:
1439:
1435:
1430:
1428:
1426:
1422:
1418:
1414:
1409:
1407:
1405:
1401:
1394:
1392:
1390:
1386:
1378:
1376:
1374:
1370:
1366:
1362:
1358:
1354:
1350:
1346:
1341:
1339:
1336:
1332:
1328:
1316:
1311:
1307:
1303:
1300:
1296:
1289:
1287:
1284:
1280:
1276:
1272:
1269:
1265:
1261:
1254:
1252:
1248:
1242:
1238:
1235:
1229:
1227:
1223:
1219:
1213:
1209:
1206:
1202:
1195:
1193:
1189:
1183:
1179:
1176:
1170:
1168:
1164:
1160:
1154:
1150:
1147:
1145:RefSeq (mRNA)
1143:
1136:
1135:
1130:
1126:
1123:
1117:
1116:
1111:
1107:
1104:
1102:
1098:
1091:
1090:
1085:
1081:
1078:
1072:
1071:
1066:
1062:
1059:
1057:
1053:
1046:
1045:
1040:
1036:
1033:
1027:
1026:
1021:
1017:
1014:
1012:
1008:
1005:
1002:
1000:
997:
993:
990:
986:
982:
975:
971:
966:
960:
957:
955:
952:
950:
947:
945:
942:
940:
937:
935:
932:
930:
927:
925:
922:
920:
917:
915:
912:
910:
907:
905:
902:
900:
897:
895:
892:
890:
887:
885:
882:
880:
877:
875:
872:
870:
867:
865:
862:
860:
857:
855:
852:
850:
847:
845:
842:
840:
837:
835:
832:
830:
827:
825:
822:
820:
817:
815:
812:
810:
807:
805:
802:
800:
799:heart looping
797:
795:
792:
790:
787:
785:
782:
780:
777:
775:
772:
770:
767:
765:
762:
760:
757:
755:
752:
750:
747:
745:
742:
740:
737:
735:
732:
730:
727:
725:
722:
720:
717:
715:
712:
710:
707:
705:
702:
700:
697:
696:
694:
691:
690:
684:
681:
679:
676:
674:
671:
669:
666:
664:
663:motile cilium
661:
659:
656:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
609:
606:
604:
601:
599:
596:
594:
591:
589:
586:
584:
581:
579:
576:
575:
573:
570:
569:
563:
560:
558:
555:
553:
550:
548:
545:
543:
540:
539:
537:
534:
533:
530:
529:Gene ontology
526:
522:
510:
505:
501:
494:
489:
486:
484:
480:
472:
467:
456:
452:
448:
444:
440:
436:
432:
428:
424:
420:
419:
416:
412:
407:
404:
394:
390:
386:
382:
378:
374:
370:
366:
362:
358:
357:
354:
350:
345:
342:
341:
338:
336:
332:
330:
329:
325:
324:
321:
319:
315:
311:
307:
303:
295:
290:
286:
282:
277:
267:
263:
256:
249:
243:
236:
228:
224:
220:
215:
211:
206:
202:
194:
189:
185:
181:
176:
166:
162:
155:
148:
142:
135:
131:
125:
121:
117:
112:
108:
103:
99:
95:
91:
87:
83:
79:
75:
71:
67:
63:
59:
51:
46:
39:
34:
29:
25:
20:
2499:expanding it
2484:
2469:
2457:
2067:
1993:Nephrocystin
1942:
1936:
1882:
1878:
1843:(3): 213–8.
1840:
1837:DNA Sequence
1836:
1809:
1805:
1769:(2): 151–7.
1766:
1762:
1731:
1727:
1688:
1684:
1655:
1651:
1636:(6): 655–9.
1633:
1629:
1591:
1587:
1577:
1527:
1523:
1516:
1491:
1487:
1481:
1472:
1463:
1454:
1445:
1382:
1379:Interactions
1342:
1334:
1326:
1325:
1251:NP_001346487
1244:
1222:NP_001307594
1218:NP_001239607
1215:
1192:NM_001359558
1185:
1167:NM_001320665
1159:NM_001252678
1156:
1132:
1113:
1087:
1068:
1042:
1023:
1003:
998:
668:cytoskeleton
425:spermatocyte
391:right testis
333:
326:
53:External IDs
1691:(1): 22–9.
1658:(1): 93–9.
1494:(1): 9–13.
1365:polydactyly
395:left testis
292:59,260,791
279:59,229,273
191:72,738,475
178:72,686,179
31:Identifiers
2538:Categories
2460:ciliopathy
2458:see also:
2045:Basal body
1440:, May 2017
1419:, May 2017
1395:References
588:centrosome
383:left ovary
337:(ortholog)
74:HomoloGene
2489:on human
2368:cytoplasm
2095:chaperone
1875:Zoghbi HY
1247:NP_780534
1226:NP_149017
1188:NM_175325
1163:NM_033028
989:Orthologs
658:centriole
578:cytoplasm
437:spermatid
82:GeneCards
2150:RPGRIP1L
2035:RPGRIP1L
1986:proteins
1984:Ciliary
1907:16189514
1865:12549938
1857:15497446
1828:15107855
1793:30935841
1785:12872256
1750:12365916
1715:12016587
1652:Genomics
1610:15107855
1544:11381270
1436:–
1415:–
1385:interact
1299:Wikidata
968:Sources:
608:membrane
2442:TMEM216
2437:SDCCAG8
2380:nucleus
2352:RSPH10B
2299:axoneme
2216:RPGRIP1
1915:4427026
1887:Bibcode
1672:9126487
1642:1138127
1552:9778432
1508:7711739
1438:Ensembl
1417:Ensembl
1361:obesity
1331:protein
1101:UniProt
1056:Ensembl
995:Species
974:QuickGO
678:cytosol
673:nucleus
312:pattern
170:15q24.1
70:2143311
38:Aliases
2447:TXNDC3
2432:LRRC50
2422:INPP5E
2412:ARL13B
2342:RSPH6A
2337:RSPH4A
2304:DNAH11
2271:Dynein
2261:TMEM67
2236:INPP5E
2231:ARL13B
2140:CEP290
2135:CC2D2A
2125:TRIM32
2053:BBsome
2025:CEP290
1934:Human
1913:
1905:
1879:Nature
1863:
1855:
1826:
1791:
1783:
1748:
1713:
1706:384990
1703:
1670:
1640:
1608:
1550:
1542:
1506:
1285:search
1283:PubMed
1134:Q8C1Z7
1115:Q96RK4
1044:102774
1011:Entrez
628:cilium
598:BBSome
483:BioGPS
429:zygote
363:oocyte
62:600374
2493:is a
2427:KIF3A
2417:BRCC3
2403:other
2397:IFT80
2385:GLIS2
2361:Other
2347:RSPH9
2332:RSPH3
2327:RSPH1
2309:DNAI1
2292:DNAL1
2287:DNAI2
2282:DNAH5
2246:PKHD1
2241:IQCB1
2221:TULP1
2190:Cilia
2180:NPHP1
2170:NPHP4
2130:ALMS1
2116:Other
2110:BBS12
2105:BBS10
2030:GLIS2
2020:IQCB1
2015:NPHP4
2010:NPHP3
2000:NPHP1
1911:S2CID
1861:S2CID
1789:S2CID
1548:S2CID
1389:DCTN1
1387:with
1369:renal
1329:is a
1004:Mouse
999:Human
970:Amigo
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
78:13197
2495:stub
2487:gene
2407:AHI1
2256:PKD2
2251:PKD1
2211:RPGR
2201:LCA5
2175:NEK8
2165:INVS
2160:AHI1
2155:OFD1
2145:MKS1
2120:ARL6
2100:MKKS
2088:BBS9
2083:TTC8
2078:BBS7
2073:BBS5
2068:BBS4
2063:BBS2
2058:BBS1
2005:INVS
1943:BBS4
1937:BBS4
1903:PMID
1853:PMID
1824:PMID
1781:PMID
1746:PMID
1711:PMID
1668:PMID
1638:PMID
1606:PMID
1540:PMID
1504:PMID
1338:gene
1335:BBS4
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
86:BBS4
58:OMIM
45:BBS4
22:BBS4
2373:KTU
2206:RP1
1895:doi
1883:437
1845:doi
1814:doi
1771:doi
1736:doi
1732:120
1701:PMC
1693:doi
1660:doi
1596:doi
1532:doi
1496:doi
1025:585
288:End
187:End
90:OMA
66:MGI
2540::
1909:.
1901:.
1893:.
1881:.
1859:.
1851:.
1841:15
1839:.
1822:.
1810:36
1808:.
1804:.
1787:.
1779:.
1767:22
1765:.
1761:.
1744:.
1730:.
1726:.
1709:.
1699:.
1689:71
1687:.
1683:.
1666:.
1656:41
1654:.
1634:45
1632:.
1604:.
1592:36
1590:.
1586:.
1560:^
1546:.
1538:.
1528:28
1526:.
1502:.
1490:.
1471:.
1453:.
1424:^
1403:^
1391:.
1375:.
1367:,
1363:,
1359:,
1340:.
972:/
294:bp
281:bp
193:bp
180:bp
88:;
84::
80:;
76::
72:;
68::
64:;
60::
2526:e
2519:t
2512:v
2501:.
1977:e
1970:t
1963:v
1950:.
1917:.
1897::
1889::
1867:.
1847::
1830:.
1816::
1795:.
1773::
1752:.
1738::
1717:.
1695::
1674:.
1662::
1644:.
1612:.
1598::
1571:.
1554:.
1534::
1510:.
1498::
1492:4
1475:.
1457:.
212:)
109:)
92::
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