TUBB6 (tubulin beta 6 class V)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84617 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Tubulin beta 6 class V |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TUBB6 |
SynonymsGene synonyms aliases
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FPVEPD, HsT1601, TUBB-5 |
ChromosomeChromosome number
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18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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18p11.21 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1555669248 |
T>C |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q9BUF5 |
Protein name |
Tubulin beta-6 chain (Tubulin beta class V) |
Protein function |
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00091 |
Tubulin |
3 → 212 |
Tubulin/FtsZ family, GTPase domain |
Domain |
PF03953 |
Tubulin_C |
261 → 383 |
Tubulin C-terminal domain |
Domain |
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Sequence |
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Sequence length |
446 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Spinocerebellar ataxia |
SPINOCEREBELLAR ATAXIA 28 |
rs-1, rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573 |
20725928 |
Spastic ataxia |
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE |
rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120, rs397509404, rs386833661, rs386834157, rs1553608221, rs-1, rs587777197, rs587777198, rs886041035, rs199474695, rs199474696, rs727502823, rs727503785, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs753962912, rs143441644, rs786205598, rs797045936, rs780247476, rs797045937, rs797044608, rs752623413, rs876657721, rs876657720, rs878854975, rs1131690773, rs752059006, rs202199411, rs886041949, rs757872635, rs1057517123, rs747868017, rs1057517294, rs1057516347, rs1057517232, rs565203731, rs753205260, rs1057516398, rs1057516856, rs756597098, rs1057516578, rs1057516773, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517383, rs1057516464, rs1057517349, rs1057516875, rs1057517060, rs765992922, rs1057516853, rs1057517020, rs753012964, rs1057517212, rs1057517014, rs758572409, rs1057516959, rs1057516438, rs1057517451, rs747676277, rs145766983, rs1057516689, rs1057517222, rs1057517301, rs1057516932, rs1057516635, rs1057516295, rs1057517366, rs1057517099, rs759166250, rs1057517138, rs761089024, rs1057517172, rs1057517297, rs1057517311, rs1057517305, rs1057516580, rs1057516285, rs780197970, rs1057516294, rs1057516930, rs1057516779, rs1057516222, rs1057517039, rs1057516551, rs1057516767, rs766457071, rs1057517034, rs1057516624, rs1057516829, rs1057517437, rs1057517285, rs1057516554, rs1057516224, rs1057516543, rs1057516406, rs1057516365, rs1057516625, rs1057516987, rs1057517242, rs1057516820, rs1057516837, rs771943685, rs764254189, rs747779231, rs1060499656, rs371019314, rs1060503431, rs774906736, rs1064796693, rs1555251539, rs754439135, rs767871841, rs867249938, rs1440541889, rs776825296, rs1156566314, rs1160357920, rs773182375, rs1372213267, rs374128662, rs1360298758, rs1555250160, rs1555252345, rs923921184, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555249662, rs1555249977, rs1555250016, rs1555250183, rs1555250191, rs1555250642, rs1555250949, rs1555251301, rs1555251553, rs201690040, rs1214399996, rs1555251905, rs1408290451, rs1555251935, rs1555252349, rs1555252359, rs1555252388, rs1555252448, rs1555252465, rs1555252518, rs1555252545, rs959856535, rs1555252611, rs1555252634, rs1167474602, rs1175545518, rs1417057515, rs1555249338, rs1555249460, rs1555249599, rs1555249633, rs1555249648, rs1555249745, rs1555249789, rs1555249797, rs1555249878, rs1400601705, rs1555249966, rs1555250383, rs1555250987, rs1555251007, rs1555251428, rs1555251514, rs1555251840, rs1555251853, rs1555251990, rs1555252086, rs1555252458, rs1555252531, rs1555252786, rs1555252844, rs1555252876, rs1555252928, rs745961541, rs1555252929, rs745907077, rs753277514, rs1555254489, rs1555249326, rs1555249371, rs1555249695, rs1555249766, rs1555249826, rs1555249881, rs1555249894, rs1555249904, rs1555250022, rs1555250082, rs1555250508, rs1555250557, rs1555250684, rs1555250872, rs1279988199, rs1555251241, rs1555251254, rs1028098148, rs140034972, rs1555251421, rs1555251699, rs766711286, rs1555251944, rs1555251960, rs1555252113, rs1555252142, rs1485885260, rs1555252184, rs1459899547, rs1555252926, rs1555252944, rs1555254734, rs1555249607, rs1555250255, rs1555250359, rs1555250395, rs1555250653, rs1555250991, rs1555251015, rs1240368715, rs1555251151, rs1555251615, rs1555251818, rs1555251963, rs1485209013, rs1555252055, rs1188844823, rs1555252148, rs1555252587, rs1555252623, rs144267558, rs142037771, rs1555252953, rs1555254439, rs1555251822, rs1555255676, rs1567721108, rs1006060877, rs746220436, rs1566069517, rs1310569366, rs751568153, rs1181477970, rs1593129673, rs1593133395, rs994374354, rs1593121924, rs770490672, rs1593133306, rs1593121484, rs780184251, rs1581504953, rs1131040, rs1581505917, rs1593145590, rs1326359185, rs543422544, rs1593123432, rs772704931, rs753958013, rs927804920, rs1883405453, rs1868872666, rs769212398, rs757179309, rs772475828 |
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Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
20725928 |
Hypertension |
Hypertensive disease |
rs13306026 |
20725928 |
Hypercalcemia |
Hypercalcemia |
rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 |
20725928 |
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction |
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION |
rs1555669248 |
29016863 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Macular degeneration |
Macular degeneration |
rs376633374, rs41292677, rs1800555, rs61750126, rs1801581, rs641153, rs12614, rs4151667, rs1049331, rs2293870, rs4147830, rs3112831, rs4147831, rs1553193877, rs61752395, rs61749417, rs61749440, rs61754033, rs61754034, rs17110922, rs61750129, rs1801666, rs1800549, rs1801466, rs1801574, rs4147857, rs1800739, rs56142141, rs1801359, rs61748519, rs17110761, rs1801555, rs6657239, rs1800717, rs77293072, rs6666652, rs17624021, rs2228528, rs2228524, rs2229760, rs2228526, rs2228527, rs4253211, rs4253013, rs2228529, rs154001, rs27713, rs190450, rs2275029, rs1762114, rs570745701, rs147884766, rs2042327, rs76258939, rs200060005, rs149054177, rs113106943, rs139007661, rs61760163, rs4253132, rs281865386, rs145525174, rs145720191, rs4253027, rs557212203, rs746570981, rs149101394, rs45484591, rs4253047, rs368846708, rs143263315, rs201602424, rs201150919, rs148095899, rs55860151, rs140482171, rs55698015, rs199910288, rs545770705, rs752517345, rs375820274, rs145772673, rs201927661, rs886045744, rs200156765, rs573119781, rs200897962, rs397961020, rs886045695, rs759638529, rs759693498, rs780673178, rs771757920, rs146952459, rs55665437, rs200946608, rs202127235, rs886046562, rs114518437, rs754531924, rs138831474, rs190370456, rs145766145, rs62642572, rs374630957, rs775661924, rs138246242, rs886046566, rs886046567, rs886046568, rs567985213, rs201160433, rs202199507, rs374196141, rs142673376, rs763857670, rs75092434, rs76305791, rs180921875, rs766512063, rs538804441, rs761867791, rs191506332, rs886046560, rs774957381, rs761989194, rs746468013, rs75267647, rs886046565, rs147135304, rs770439859, rs185225547, rs148091207, rs3747961, rs773349580, rs76201551, rs886046559, rs886046561, rs758825834, rs886046563, rs886046564, rs141004967, rs762213896, rs370967816, rs138157885, rs376624031, rs372976742, rs200102393, rs201336507, rs142243595, rs145988012, rs573509224, rs72842444, rs796979529, rs117314762, rs767428982, rs4151650, rs537478097, rs144812066, rs4151651, rs117905900, rs150920440, rs761050063, rs201798809, rs886061297, rs749158582, rs45476300, rs201711512, rs9332730, rs747202032, rs1048709, rs4151670, rs2072634, rs116928087, rs45507391, rs201806170, rs567255004, rs755016493, rs138236643, rs4151669, rs201659953, rs138207668, rs886061296, rs4151672, rs36221133, rs886061295, rs753831049, rs45600936, rs4151659, rs188688680, rs375895797, rs7088128, rs369018824, rs2672602, rs886046772, rs541204010, rs757237545, rs202167109, rs2672586, rs28665753, rs557944846, rs117289374, rs542053472, rs4253234, rs886047032, rs2229761, rs4253004, rs529644268, rs4752698, rs2672603, rs550039968, rs144118239, rs147228327, rs3750751, rs759125039, rs761802751, rs554513888, rs2272599, rs886046773, rs555692792, rs541533723, rs369149111, rs190036021, rs114877122, rs149294320, rs11538140, rs562876149, rs557832376, rs4253231, rs35365613, rs4253005, rs114183603, rs11101137, rs189942338, rs74561842, rs886047036, rs766986601, rs886054364, rs140718871, rs145108467, rs556678788, rs184393277, rs886054365, rs138512126, rs753823753, rs886054652, rs886054654, rs528697923, rs143816706, rs886054653, rs775843240, rs150444854, rs752201545, rs140088745, rs139620409, rs374675648, rs1561760487, rs996483189, rs754645487 |
20725928 |
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Dysphagia |
Deglutition Disorders |
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20725928 |
Facial paralysis |
Facial paralysis |
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Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
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20725928 |
Hiatal hernia |
Hiatal Hernia |
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20725928 |
Keratoconjunctivitis sicca |
Keratoconjunctivitis Sicca |
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20725928 |
Osteopenia |
Osteopenia |
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20725928 |
Parotitis |
Parotitis |
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20725928 |
Velopharyngeal insufficiency |
Velopharyngeal Insufficiency |
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Vitamin d deficiency |
Vitamin D Deficiency |
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20725928 |
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