242:
219:
116:
141:
248:
147:
1082:. While the mechanism by which TOMT contributes to MET currents and auditory function is currently unknown, the methyltransferase domain is likely not involved. Mutations in TOMT disrupt the stereocilia localization of MET channel subunits and are thus thought to affect MET currents. These results have also been illustrated in multiple mutations in both mice and zebrafish.
1070:
contains 10 exons that encode two separate proteins translated from unique and overlapping open reading frames (ORFs). Translation of LRTOMT1, a protein that contains leucine-rich repeats, starts in exon 3 and stops at exon 6. Translation of LRTOMT2, also known as TOMT or COMT2, starts in exon 5 and
1071:
ends at exon 10. Human TOMT has a predicted methyltransferase domain that is conserved with catechol-o-methyltransferase (COMT) and a single predicted transmembrane alpha helix. Mice and zebrafish have separate genes for Lrrc51 and Tomt.
1304:
TOMT has also been associated with postmenopausal osteoporosis in rats. Specifically, LRTOMT downregulation after ovariectomy was significantly correlated with decreased bone density and changes in bone microstructure.
1300:
While most variations cause prelingual profound sensorineural deafness, one patient with compound heterozygous mutations (Arg52Trp and Arg54Gln) was reported to develop ski-slope hearing loss starting at age 11.
1054:
Transmembrane O-methyltransferase (TOMT) is a protein encoded by the LRTOMT gene in humans. Located on chromosome 11, mutations in LRTOMT are associated with the DFNB63 form of autosomal recessive
1533:"Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis"
1559:"Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies"
1090:
Over 20 variants in TOMT have been shown to cause hearing loss in humans. Populations reported to be most affected by TOMT-related hearing loss include
Iranian and Tunisian families.
255:
154:
727:
708:
77:
1382:
1364:
1618:
1440:"Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt)"
241:
1002:
995:
218:
1598:"A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame"
1351:
1330:
140:
115:
1347:
1459:"A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family"
1326:
1497:"Postmenopausal osteoporosis: Effect of moderate-intensity treadmill exercise on bone proteomics in ovariectomized rats"
57:
254:
153:
1520:"The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population"
247:
146:
48:, CFAP111, DFNB63, LRRC51, leucine rich transmembrane and O-methyltransferase domain containing, TOMT, LRRC51-TOMT
1546:"Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance"
772:
65:
1421:"The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells"
1458:
753:
1402:"Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans"
1078:
function and is associated with components of the mechanoelectrical transduction (MET) channel, including
1055:
129:
1572:"Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness"
953:
945:
941:
937:
44:
978:
974:
929:
925:
915:
911:
907:
903:
899:
879:
875:
854:
850:
846:
949:
89:
933:
1478:"Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees"
37:
334:
265:
209:
164:
85:
309:
642:
637:
632:
627:
622:
617:
612:
607:
591:
586:
581:
576:
571:
566:
550:
545:
540:
535:
530:
525:
1612:
512:
69:
327:
106:
93:
1387:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1369:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1067:
410:
226:
123:
73:
1597:
1585:"LRTOMT: a new tone in understanding the symphony of non-syndromic deafness"
1584:
1571:
1558:
1545:
1532:
1519:
1496:
1477:
1401:
1075:
672:
470:
348:
293:
280:
192:
179:
81:
1439:
1420:
1042:
1037:
1026:
821:
802:
798:
784:
739:
1010:
694:
1066:
LRTOMT is a fusion between the LRRC51 and TOMT genes in humans. The
657:
653:
1079:
61:
317:
482:
967:
898:
868:
839:
1343:
1341:
1339:
1322:
1320:
1318:
264:
163:
16:Protein-coding gene in the species Homo sapiens
1348:GRCm38: Ensembl release 89: ENSMUSG00000078630
8:
1327:GRCh38: Ensembl release 89: ENSG00000284922
895:
668:
508:
305:
204:
101:
1092:
1314:
18:
546:catechol O-methyltransferase activity
269:
230:
225:
168:
127:
122:
7:
551:orcinol O-methyltransferase activity
541:L-dopa O-methyltransferase activity
964:
865:
836:
812:
789:
763:
744:
718:
699:
633:auditory receptor cell development
623:neurotransmitter catabolic process
487:
405:
343:
322:
14:
253:
246:
240:
217:
152:
145:
139:
114:
628:catecholamine catabolic process
618:catecholamine metabolic process
1074:TOMT is required for cochlear
572:integral component of membrane
471:More reference expression data
371:olfactory zone of nasal mucosa
1:
238:
137:
1619:Genes on human chromosome 11
536:O-methyltransferase activity
379:stromal cell of endometrium
1635:
643:dopamine metabolic process
526:methyltransferase activity
1576:Eur Arch Otorhinolaryngol
1482:Eur Arch Otorhinolaryngol
1419:Cunningham, Christopher.
1383:"Mouse PubMed Reference:"
1365:"Human PubMed Reference:"
1056:nonsyndromic hearing loss
1041:
1036:
1032:
1025:
1009:
1003:Chr 7: 101.55 – 101.56 Mb
990:
971:
922:
891:
872:
843:
832:
819:
815:
796:
792:
783:
770:
766:
751:
747:
738:
725:
721:
706:
702:
693:
678:
671:
667:
651:
511:
507:
495:
490:
481:
468:
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:
1550:Ann Otol Rhinol Laryngol
996:Chr 11: 72.08 – 72.11 Mb
1596:Vanwesemael, Maarten.
1283:Ilu188Thr (frameshift)
1275:Ala170Ala (frameshift)
1102:Identified Population
1563:Mol Genet Genomic Med
1147:Ser45Ser (frameshift)
1139:Pro36Leu (frameshift)
1123:Thr33His (frameshift)
1115:Ala29Ser (frameshift)
1086:Clinical significance
638:developmental process
587:endoplasmic reticulum
130:Chromosome 11 (human)
1463:BMC Medical Genetics
1094:Identified Variants
531:transferase activity
445:white adipose tissue
232:Chromosome 7 (mouse)
1531:Gibriel, Abdullah.
1438:Erickson, Timothy.
1095:
387:islet of Langerhans
375:ganglionic eminence
1557:Mosrati, Mohamed.
1093:
773:ENSMUSG00000078630
601:Biological process
592:cellular component
560:Cellular component
519:Molecular function
94:LRTOMT - orthologs
1298:
1297:
1052:
1051:
1048:
1047:
1021:
1020:
986:
985:
961:
960:
887:
886:
862:
861:
828:
827:
809:
808:
779:
778:
760:
759:
734:
733:
715:
714:
663:
662:
503:
502:
499:
498:
477:
476:
464:
463:
402:
401:
300:
299:
199:
198:
1626:
1605:
1602:Am J Med Genet A
1592:
1579:
1566:
1553:
1540:
1527:
1518:Charif, Majida.
1505:
1504:
1495:Yang, Yong-Jie.
1492:
1486:
1485:
1473:
1467:
1466:
1457:Sarmadi, Akram.
1454:
1448:
1447:
1435:
1429:
1428:
1416:
1410:
1409:
1397:
1391:
1390:
1379:
1373:
1372:
1361:
1355:
1345:
1334:
1324:
1096:
1034:
1033:
1005:
998:
981:
965:
956:
896:
892:RefSeq (protein)
882:
866:
857:
837:
813:
790:
764:
745:
719:
700:
669:
509:
488:
473:
413:
411:Top expressed in
406:
395:ventricular zone
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:
1634:
1633:
1629:
1628:
1627:
1625:
1624:
1623:
1609:
1608:
1607:
1595:
1582:
1570:Salame, Malak.
1569:
1556:
1544:Ichinose, Aya.
1543:
1530:
1517:
1514:
1512:Further reading
1509:
1508:
1494:
1493:
1489:
1475:
1474:
1470:
1456:
1455:
1451:
1437:
1436:
1432:
1418:
1417:
1413:
1400:Ahmed, Zubair.
1399:
1398:
1394:
1381:
1380:
1376:
1363:
1362:
1358:
1346:
1337:
1325:
1316:
1311:
1088:
1064:
1043:View/Edit Mouse
1038:View/Edit Human
1001:
994:
991:Location (UCSC)
977:
973:
952:
948:
944:
940:
936:
932:
928:
924:
918:
914:
910:
906:
902:
878:
874:
853:
849:
845:
801:
754:ENSG00000284922
647:
596:
582:plasma membrane
555:
469:
460:
457:proximal tubule
455:
451:
447:
443:
439:
435:
431:
427:
423:
409:
398:
393:
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385:
381:
377:
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369:
365:
361:
347:
291:
278:
270:
260:
259:
258:
251:
231:
208:Gene location (
190:
177:
169:
159:
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157:
150:
128:
105:Gene location (
56:
43:
36:
17:
12:
11:
5:
1632:
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1510:
1507:
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1487:
1468:
1449:
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1411:
1392:
1374:
1356:
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1310:
1307:
1296:
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1208:
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1196:
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1191:
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1172:
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1164:
1160:
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1151:
1148:
1144:
1143:
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1135:
1132:
1128:
1127:
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1120:
1119:
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1112:
1111:
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1103:
1100:
1087:
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1063:
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1050:
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1045:
1040:
1030:
1029:
1023:
1022:
1019:
1018:
1016:
1014:
1007:
1006:
999:
992:
988:
987:
984:
983:
969:
968:
962:
959:
958:
954:NP_001305732.1
946:NP_001258400.1
942:NP_001192067.1
938:NP_001138779.1
920:
919:
893:
889:
888:
885:
884:
870:
869:
863:
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859:
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840:
834:
830:
829:
826:
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816:
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806:
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767:
761:
758:
757:
749:
748:
742:
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735:
732:
731:
723:
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713:
712:
704:
703:
697:
691:
690:
685:
680:
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675:
665:
664:
661:
660:
649:
648:
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640:
635:
630:
625:
620:
615:
610:
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602:
598:
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595:
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589:
584:
579:
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569:
563:
561:
557:
556:
554:
553:
548:
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538:
533:
528:
522:
520:
516:
515:
505:
504:
501:
500:
497:
496:
493:
492:
485:
479:
478:
475:
474:
466:
465:
462:
461:
459:
458:
454:
450:
446:
442:
438:
437:primary oocyte
434:
430:
426:
422:
418:
415:
414:
403:
400:
399:
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396:
392:
388:
384:
380:
376:
372:
368:
364:
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356:
353:
352:
340:
339:
331:
320:
314:
313:
310:RNA expression
302:
301:
298:
297:
289:
285:
284:
276:
273:
268:
262:
261:
252:
245:
239:
235:
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196:
188:
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144:
138:
134:
133:
126:
120:
119:
111:
110:
98:
97:
54:
50:
49:
41:
33:
32:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1631:
1620:
1617:
1616:
1614:
1606:
1603:
1599:
1593:
1590:
1586:
1583:Schulze, JM.
1580:
1577:
1573:
1567:
1564:
1560:
1554:
1551:
1547:
1541:
1538:
1534:
1528:
1525:
1521:
1511:
1502:
1498:
1491:
1488:
1483:
1479:
1476:Kim, Yehree.
1472:
1469:
1464:
1460:
1453:
1450:
1445:
1441:
1434:
1431:
1426:
1422:
1415:
1412:
1407:
1403:
1396:
1393:
1388:
1384:
1378:
1375:
1370:
1366:
1360:
1357:
1353:
1349:
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1342:
1340:
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1332:
1328:
1323:
1321:
1319:
1315:
1308:
1306:
1302:
1293:
1290:
1289:
1285:
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1281:
1277:
1274:
1273:
1269:
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1265:
1261:
1258:
1257:
1253:
1250:
1249:
1245:
1242:
1241:
1237:
1234:
1233:
1229:
1226:
1225:
1221:
1218:
1217:
1213:
1210:
1209:
1205:
1202:
1201:
1197:
1194:
1193:
1189:
1186:
1185:
1181:
1178:
1177:
1173:
1170:
1169:
1165:
1162:
1161:
1157:
1154:
1153:
1149:
1146:
1145:
1141:
1138:
1137:
1133:
1130:
1129:
1125:
1122:
1121:
1117:
1114:
1113:
1109:
1106:
1105:
1101:
1098:
1097:
1091:
1085:
1083:
1081:
1077:
1072:
1069:
1061:
1059:
1057:
1044:
1039:
1035:
1031:
1028:
1024:
1017:
1015:
1012:
1008:
1004:
1000:
997:
993:
989:
982:
980:
976:
970:
966:
963:
957:
955:
951:
947:
943:
939:
935:
931:
927:
921:
917:
913:
909:
905:
901:
897:
894:
890:
883:
881:
877:
871:
867:
864:
858:
856:
852:
848:
842:
838:
835:
833:RefSeq (mRNA)
831:
824:
823:
818:
814:
811:
805:
804:
800:
795:
791:
788:
786:
782:
775:
774:
769:
765:
762:
756:
755:
750:
746:
743:
741:
737:
730:
729:
724:
720:
717:
711:
710:
705:
701:
698:
696:
692:
689:
686:
684:
681:
677:
674:
670:
666:
659:
655:
650:
644:
641:
639:
636:
634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
609:
606:
605:
603:
600:
599:
593:
590:
588:
585:
583:
580:
578:
575:
573:
570:
568:
565:
564:
562:
559:
558:
552:
549:
547:
544:
542:
539:
537:
534:
532:
529:
527:
524:
523:
521:
518:
517:
514:
513:Gene ontology
510:
506:
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:
1601:
1594:
1588:
1581:
1575:
1568:
1562:
1555:
1549:
1542:
1537:Mol Biol Rep
1536:
1529:
1524:Mol Biol Rep
1523:
1516:
1500:
1490:
1481:
1471:
1462:
1452:
1443:
1433:
1424:
1414:
1405:
1395:
1386:
1377:
1368:
1359:
1303:
1299:
1190:Mauritanian
1089:
1073:
1065:
1053:
979:NP_001269017
975:NP_001075148
972:
930:NP_001305732
926:NP_001258400
923:
916:NP_001192067
912:NP_001138782
908:NP_001138781
904:NP_001138780
900:NP_001138779
880:NM_001282088
876:NM_001081679
873:
855:NM_001145310
851:NM_001145309
847:NM_001145308
844:
820:
797:
771:
752:
726:
707:
687:
682:
383:uterine tube
363:right testis
333:
326:
292:101,555,566
279:101,547,577
53:External IDs
1068:fusion gene
950:NP_660352.1
608:methylation
429:granulocyte
367:left testis
271:7 E2|7
191:72,110,782
178:72,080,331
31:Identifiers
1589:Clin Genet
1501:Front Surg
1354:, May 2017
1333:, May 2017
1309:References
1174:Pakistani
433:blastocyst
337:(ortholog)
74:HomoloGene
1406:Nat Genet
1286:Japanese
1267:Arg158His
1254:Tunisian
1251:Glu110Lys
1246:Tunisian
1243:Trp105Arg
1230:Tunisian
1198:Tunisian
1182:Japanese
1126:American
1076:hair cell
934:NP_660352
673:Orthologs
567:cytoplasm
82:GeneCards
1613:Category
1350:–
1329:–
1294:Chinese
1278:Iranian
1270:Chinese
1262:Iranian
1235:Phe83Leu
1227:Arg81Gln
1222:Iranian
1219:Glu80Asp
1214:Iranian
1206:Iranian
1195:Trp65Arg
1187:Leu60Pro
1179:Arg54Gln
1171:Arg52Trp
1166:Iranian
1163:Arg41Trp
1158:Iranian
1155:Glu40Asp
1150:Iranian
1142:Iranian
1134:Iranian
1131:Met34Ilu
1118:Turkish
1110:Iranian
1107:Leu16Pro
1062:Function
1027:Wikidata
652:Sources:
577:membrane
449:placenta
441:epiblast
359:testicle
1352:Ensembl
1331:Ensembl
1291:Arg219X
1259:Tyr111X
1099:Variant
785:UniProt
740:Ensembl
679:Species
658:QuickGO
613:hearing
312:pattern
170:11q13.4
70:3769724
38:Aliases
1238:Czech
1211:Tyr71X
1203:Arg70X
1013:search
1011:PubMed
822:A1Y9I9
803:Q96E66
799:Q8WZ04
728:791260
709:220074
695:Entrez
483:BioGPS
425:embryo
421:morula
86:LRTOMT
62:612414
45:LRTOMT
22:LRTOMT
1444:eLife
1425:eLife
688:Mouse
683:Human
654:Amigo
453:ovary
391:gonad
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
78:19664
1080:TMC1
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
58:OMIM
1058:.
491:n/a
288:End
187:End
90:OMA
66:MGI
1615::
1600:.
1587:.
1574:.
1561:.
1548:.
1535:.
1522:.
1499:.
1480:.
1461:.
1442:.
1423:.
1404:.
1385:.
1367:.
1338:^
1317:^
656:/
294:bp
281:bp
193:bp
180:bp
88:;
84::
80:;
76::
72:;
68::
64:;
60::
1604:.
1591:.
1578:.
1565:.
1552:.
1539:.
1526:.
1503:.
1484:.
1465:.
1446:.
1427:.
1408:.
1389:.
1371:.
212:)
109:)
92::
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