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TUBB6 (tubulin beta 6 class V)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84617
Gene nameGene Name - the full gene name approved by the HGNC.
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.
TUBB6
SynonymsGene synonyms aliases
FPVEPD, HsT1601, TUBB-5
ChromosomeChromosome number
18
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.21
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555669248 T>C Pathogenic Intron variant, missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004884 hsa-miR-124-3p Microarray 15685193
MIRT040720 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
GO:0000278 Process Mitotic cell cycle IBA 21873635
GO:0003674 Function Molecular_function ND
GO:0003924 Function GTPase activity IEA
GO:0005200 Function Structural constituent of cytoskeleton IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
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.
 
KEGG
 
Reactome
  Phagosome
Gap junction
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
  Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
Carboxyterminal post-translational modifications of tubulin
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
Sealing of the nuclear envelope (NE) by ESCRT-III
Kinesins
Associated diseases
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
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 20725928
Hypertension Hypertensive disease rs13306026 20725928
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
Dysphagia Deglutition Disorders 20725928
Facial paralysis Facial paralysis

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