TUBB6

Summary

TUBB6 (tubulin beta 6 class V, HGNC:20776) is a protein-coding gene on chromosome 18p11.21, encoding Tubulin beta-6 chain (Q9BUF5). Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in intercellular bridge; microtubule; and mitotic spindle.

Source: NCBI Gene 84617 — RefSeq curated summary.

At a glance

• Gene–disease (curated): facial palsy, congenital, with ptosis and velopharyngeal dysfunction (Limited, GenCC)
• Clinical variants (ClinVar): 66 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 10
• Druggable target: yes — 21 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_032525

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20776
Approved symbol	TUBB6
Name	tubulin beta 6 class V
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	MGC4083, HsT1601
Ensembl gene	ENSG00000176014
Ensembl biotype	protein_coding
OMIM	615103
Entrez	84617

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000317702, ENST00000417736, ENST00000586653, ENST00000586691, ENST00000586810, ENST00000587204, ENST00000590103, ENST00000590388, ENST00000590693, ENST00000590967, ENST00000591208, ENST00000591463, ENST00000591909, ENST00000592683, ENST00000933565, ENST00000933566

RefSeq mRNA: 8 — MANE Select: NM_032525 NM_001303524, NM_001303525, NM_001303526, NM_001303527, NM_001303528, NM_001303529, NM_001303530, NM_032525

CCDS: CCDS11858, CCDS77153

Canonical transcript exons

ENST00000317702 — 4 exons

Exon	Start	End
ENSE00001257409	12325067	12326616
ENSE00002760733	12308241	12308349
ENSE00003542706	12310943	12311053
ENSE00003620178	12308687	12308795

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 158.7820 / max 813.4959, expressed in 1767 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169490	156.1783	1765
169489	2.5257	1284
169488	0.0780	34

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus	UBERON:0013473	99.07	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.07	gold quality
saphenous vein	UBERON:0007318	98.90	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.86	gold quality
tongue squamous epithelium	UBERON:0006919	98.84	gold quality
left uterine tube	UBERON:0001303	98.80	gold quality
pharyngeal mucosa	UBERON:0000355	98.79	gold quality
esophagus	UBERON:0001043	98.78	gold quality
mammalian vulva	UBERON:0000997	98.68	gold quality
mucosa of stomach	UBERON:0001199	98.63	gold quality
esophagus mucosa	UBERON:0002469	98.58	gold quality
left coronary artery	UBERON:0001626	98.52	gold quality
stromal cell of endometrium	CL:0002255	98.51	gold quality
oral cavity	UBERON:0000167	98.50	gold quality
coronary artery	UBERON:0001621	98.46	gold quality
right coronary artery	UBERON:0001625	98.45	gold quality
amniotic fluid	UBERON:0000173	98.43	gold quality
gingiva	UBERON:0001828	98.41	gold quality
smooth muscle tissue	UBERON:0001135	98.35	gold quality
decidua	UBERON:0002450	98.34	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.33	gold quality
lower esophagus mucosa	UBERON:0035834	98.32	gold quality
popliteal artery	UBERON:0002250	98.30	gold quality
tibial artery	UBERON:0007610	98.30	gold quality
aorta	UBERON:0000947	98.29	gold quality
thoracic aorta	UBERON:0001515	98.29	gold quality
body of uterus	UBERON:0009853	98.28	gold quality
ascending aorta	UBERON:0001496	98.27	gold quality
adipose tissue	UBERON:0001013	98.23	gold quality
vena cava	UBERON:0004087	98.23	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-9435	yes	267.49
E-CURD-112	yes	39.35
E-MTAB-6678	yes	26.69
E-GEOD-81547	yes	22.46
E-HCAD-13	yes	20.36
E-MTAB-8410	yes	9.33
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting TUBB6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-325	99.58	66.55	358
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-15B-3P	97.85	66.68	974
HSA-MIR-647	97.73	67.79	927
HSA-MIR-3909	97.55	66.78	887
HSA-MIR-663B	97.40	62.91	664
HSA-MIR-3200-5P	97.34	65.97	826
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-598-3P	89.25	67.61	112

Literature-anchored findings (GeneRIF, showing 9)

• The TUBB6 expression was largely decreased in most tumors. (PMID:20191564)
• in colorectal cancer patients, there was a link between poor survival, the expression of TUBB3/TUBB6, and androgen receptor only in females (PMID:22438565)
• betaV-tubulin expression is a potentially promising prognostic marker of malignancy. (PMID:22903939)
• TUBB6 is an inhibitor of pyroptosis. (PMID:24173717)
• Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6. (PMID:24275654)
• Findings enlarge the spectrum of tubulinopathies and emphasize that mutations of TUBB6 should be considered in patients with congenital non-progressive facial palsy. (PMID:29016863)
• Methylation in the beta-tubulin TUBB6 correlated with the presence of dysplasia and accurately discriminated between dysplasia and nondysplastic tissue, even in the apparently normal field mucosa downstream from dysplastic lesions. Methylation in TUBB6 is a potential biomarker for Ulcerative colitis (UC) - associated dysplasia. (PMID:29762666)
• Primary myeloid cell proteomics and transcriptomics: importance of beta-tubulin isotypes for osteoclast function. (PMID:32265273)
• Quantitative proteomics identifies TUBB6 as a biomarker of muscle-invasion and poor prognosis in bladder cancer. (PMID:36054443)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tubb6	ENSDARG00000104801
mus_musculus	Tubb6	ENSMUSG00000001473
rattus_norvegicus	Tubb6	ENSRNOG00000018371

Paralogs (23): TUBG2 (ENSG00000037042), TUBE1 (ENSG00000074935), TUBA3D (ENSG00000075886), TUBB1 (ENSG00000101162), TUBB4A (ENSG00000104833), TUBD1 (ENSG00000108423), TUBA1B (ENSG00000123416), TUBA4A (ENSG00000127824), TUBG1 (ENSG00000131462), TUBB2A (ENSG00000137267), TUBB2B (ENSG00000137285), TUBA3E (ENSG00000152086), TUBA1A (ENSG00000167552), TUBA1C (ENSG00000167553), TUBB8B (ENSG00000173213), TUBAL3 (ENSG00000178462), TUBA8 (ENSG00000183785), TUBB4B (ENSG00000188229), TUBB (ENSG00000196230), TUBA3C (ENSG00000198033), TUBA4B (ENSG00000243910), TUBB3 (ENSG00000258947), TUBB8 (ENSG00000261456)

Protein

Protein identifiers

Tubulin beta-6 chain — Q9BUF5 (reviewed: Q9BUF5)

Alternative names: Tubulin beta class V

All UniProt accessions (12): Q9BUF5, K7EJ64, K7EJZ4, K7EK43, K7EL29, K7EN98, K7EPE5, K7EQT3, K7ERA8, K7ES63, K7ESM5, K7ESQ3

UniProt curated annotations — full annotation on UniProt →

Function. Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.

Subunit / interactions. Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Ubiquitous. Maximal expression in breast and lung, where it represents around 10% of all beta-tubulins. Largely decreased expression in most cancerous tissues.

Post-translational modifications. Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group. Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Glutamylation is also involved in cilia motility. Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into cilia and flagella axonemes, which is required for their stability and maintenance. Flagella glycylation controls sperm motility. Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.

Disease relevance. Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732] An autosomal dominant congenital disorder characterized by non-progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The highly acidic C-terminal region may bind cations such as calcium. The MREI motif is common among all beta-tubulin isoforms and may be critical for tubulin autoregulation.

Similarity. Belongs to the tubulin family.

RefSeq proteins (8): NP_001290453, NP_001290454, NP_001290455, NP_001290456, NP_001290457, NP_001290458, NP_001290459, NP_115914* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000217	Tubulin	Family
IPR002453	Beta_tubulin	Family
IPR003008	Tubulin_FtsZ_GTPase	Domain
IPR008280	Tub_FtsZ_C	Homologous_superfamily
IPR013838	Beta-tubulin_BS	Binding_site
IPR017975	Tubulin_CS	Conserved_site
IPR018316	Tubulin/FtsZ_2-layer-sand-dom	Domain
IPR023123	Tubulin_C	Homologous_superfamily
IPR036525	Tubulin/FtsZ_GTPase_sf	Homologous_superfamily
IPR037103	Tubulin/FtsZ-like_C	Homologous_superfamily

Pfam: PF00091, PF03953

UniProt features (15 total): binding site 9, modified residue 2, chain 1, short sequence motif 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUF5-F1	92.77	0.84

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (9): 226; 11; 69; 69; 138; 142; 143; 144; 204

Post-translational modifications (2): 172, 438

Function

Pathways and Gene Ontology

Reactome pathways

86 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-190840	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
R-HSA-190861	Gap junction assembly
R-HSA-2132295	MHC class II antigen presentation
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-389957	Prefoldin mediated transfer of substrate to CCT/TriC
R-HSA-389960	Formation of tubulin folding intermediates by CCT/TriC
R-HSA-389977	Post-chaperonin tubulin folding pathway
R-HSA-437239	Recycling pathway of L1
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-5620920	Cargo trafficking to the periciliary membrane
R-HSA-5620924	Intraflagellar transport
R-HSA-5626467	RHO GTPases activate IQGAPs
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877	Mitotic Prometaphase
R-HSA-8852276	The role of GTSE1 in G2/M progression after G2 checkpoint
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin
R-HSA-9609690	HCMV Early Events
R-HSA-9609736	Assembly and cell surface presentation of NMDA receptors
R-HSA-9619483	Activation of AMPK downstream of NMDARs
R-HSA-9646399	Aggrephagy
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-9668328	Sealing of the nuclear envelope (NE) by ESCRT-III
R-HSA-983189	Kinesins

MSigDB gene sets: 420 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_MEMBRANE_TRAFFICKING, NAGASHIMA_NRG1_SIGNALING_UP, CHANDRAN_METASTASIS_DN, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, CEBPB_01, WEI_MYCN_TARGETS_WITH_E_BOX, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FOSTER_TOLERANT_MACROPHAGE_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3

GO Biological Process (4): microtubule cytoskeleton organization (GO:0000226), mitotic cell cycle (GO:0000278), cytoskeleton organization (GO:0007010), microtubule-based process (GO:0007017)

GO Molecular Function (6): GTPase activity (GO:0003924), structural constituent of cytoskeleton (GO:0005200), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), extracellular exosome (GO:0070062), mitotic spindle (GO:0072686), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Mitotic Prometaphase	2
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	2
Assembly of the 9+0 primary cilium	2
RHO GTPase Effectors	2
Golgi-to-ER retrograde transport	2
Membrane Trafficking	1
Transport of connexons to the plasma membrane	1
Gap junction trafficking	1
Adaptive Immune System	1
Mitotic Anaphase	1
Cellular responses to stress	1
Protein folding	1
L1CAM interactions	1
Signaling by Hedgehog	1
ER to Golgi Anterograde Transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	2
cytoskeleton	2
cellular anatomical structure	2
microtubule-based process	1
cell cycle	1
mitotic nuclear division	1
organelle organization	1
cellular process	1
ribonucleoside triphosphate phosphatase activity	1
structural molecule activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
extracellular vesicle	1
spindle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

4334 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TUBB6	TUBA1B	P04687	862
TUBB6	TUBA4A	P05215	819
TUBB6	TUBAL3	A6NHL2	812
TUBB6	TUBA8	Q9NY65	812
TUBB6	TUBA3E	Q6PEY2	811
TUBB6	TUBA1B	P04687	810
TUBB6	TUBA3C	P0DPH7	810
TUBB6	TUBA1C	Q9BQE3	810
TUBB6	MRPS17	Q9Y2R5	654
TUBB6	POTEF	A5A3E0	571
TUBB6	ACTB	P02570	556
TUBB6	HSP90AA1	P07900	531
TUBB6	TBCB	Q99426	524
TUBB6	MAPRE3	Q9UPY8	502
TUBB6	ACTBL2	Q562R1	494

IntAct

184 interactions, top by confidence:

A	B	Type	Score
PPP6C	ANKRD28	psi-mi:“MI:0914”(association)	0.870
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
DNAJA4	DNAJA2	psi-mi:“MI:0914”(association)	0.710
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690
RAF1	CALU	psi-mi:“MI:0914”(association)	0.640
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
IRS4	PIK3R2	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
TUBB6	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
TUBB6	WFS1	psi-mi:“MI:0915”(physical association)	0.560
TUBB6	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
HTT	TUBB6	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (320): TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-RNA), TUBB6 (Affinity Capture-RNA), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Reconstituted Complex), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS)

ESM2 similar proteins: A6NNZ2, P02554, P04350, P07437, P09206, P09244, P09652, P11833, P11857, P14643, P18025, P30156, P61857, P61858, P68371, P69893, P69895, P69897, P83130, P99024, Q08115, Q13509, Q24560, Q27U48, Q2HJ81, Q2KJD0, Q2T9S0, Q3MHM5, Q3ZBU7, Q3ZCM7, Q4QRB4, Q4R4X8, Q5R943, Q60HC2, Q6GLE7, Q6P9T8, Q6VAF4, Q767L7, Q7JJU6, Q7KQL5

Diamond homologs: A2AQ07, A6NNZ2, O04386, O17449, O44388, P02554, P04350, P04690, P07436, P07437, P08841, P09203, P09206, P09207, P09244, P09652, P09653, P10876, P10878, P11482, P11833, P11857, P12456, P13602, P14643, P18241, P20365, P22852, P30883, P32882, P33188, P34108, P36221, P37832, P41352, P41387, P41937, P46265, P50261, P50262

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUMA1	up-regulates	TUBB6	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 200 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of tubulin folding intermediates by CCT/TriC	12	35.5×	1e-13
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	12	34.2×	1e-13
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	7	26.6×	4e-07
Transport of connexons to the plasma membrane	7	26.6×	4e-07
Chaperonin-mediated protein folding	12	25.2×	6e-12
Prefoldin mediated transfer of substrate to CCT/TriC	9	24.8×	9e-09
Gap junction trafficking and regulation	7	23.3×	8e-07
Gap junction trafficking	7	23.3×	8e-07

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of telomere maintenance via telomerase	5	21.6×	9e-04
stress granule assembly	6	21.2×	1e-04
binding of sperm to zona pellucida	5	12.4×	7e-03
cytoplasmic microtubule organization	6	12.1×	2e-03
cellular response to reactive oxygen species	5	12.1×	7e-03
microtubule cytoskeleton organization	12	8.6×	1e-05
negative regulation of translation	7	8.1×	4e-03
MAPK cascade	8	7.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

66 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	46
Likely benign	6
Benign	8

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
444894	NM_032525.3(TUBB6):c.1181T>C (p.Phe394Ser)	Pathogenic
2580154	NM_032525.3(TUBB6):c.1153T>A (p.Phe385Ile)	Likely pathogenic

SpliceAI

1223 predictions. Top by Δscore:

Variant	Effect	Δscore
18:12308685:A:G	acceptor_gain	1.0000
18:12308792:TCGT:T	donor_gain	1.0000
18:12308793:CGTG:C	donor_loss	1.0000
18:12308794:GT:G	donor_gain	1.0000
18:12308794:GTGTG:G	donor_loss	1.0000
18:12308795:TG:T	donor_loss	1.0000
18:12308796:G:GG	donor_gain	1.0000
18:12308796:GTGA:G	donor_loss	1.0000
18:12308798:GAG:G	donor_loss	1.0000
18:12309634:GACAC:G	donor_gain	1.0000
18:12310941:A:AG	acceptor_gain	1.0000
18:12310942:G:GC	acceptor_gain	1.0000
18:12310942:GC:G	acceptor_gain	1.0000
18:12310942:GCTC:G	acceptor_gain	1.0000
18:12310942:GCTCA:G	acceptor_gain	1.0000
18:12311052:TGG:T	donor_loss	1.0000
18:12311054:G:GG	donor_gain	1.0000
18:12337336:CCTA:C	donor_loss	1.0000
18:12337337:CTA:C	donor_loss	1.0000
18:12337340:C:CT	donor_loss	1.0000
18:12337340:CCTT:C	donor_gain	1.0000
18:12337532:CAAT:C	acceptor_gain	1.0000
18:12337536:C:CG	acceptor_loss	1.0000
18:12340199:A:AC	donor_gain	1.0000
18:12340200:C:CC	donor_gain	1.0000
18:12308674:T:A	acceptor_gain	0.9900
18:12308679:T:A	acceptor_gain	0.9900
18:12308684:A:AG	acceptor_gain	0.9900
18:12308686:G:GG	acceptor_gain	0.9900
18:12308784:A:AG	donor_gain	0.9900

AlphaMissense

2971 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:12308329:G:T	G13W	1.000
18:12308330:G:A	G13E	1.000
18:12308690:T:A	W21R	1.000
18:12308690:T:C	W21R	1.000
18:12325090:T:A	W101R	1.000
18:12325090:T:C	W101R	1.000
18:12325092:G:C	W101C	1.000
18:12325092:G:T	W101C	1.000
18:12325099:G:A	G104R	1.000
18:12325099:G:C	G104R	1.000
18:12325099:G:T	G104W	1.000
18:12325100:G:A	G104E	1.000
18:12325114:G:C	G109R	1.000
18:12325214:G:A	G142D	1.000
18:12325220:G:A	G144D	1.000
18:12325225:G:C	G146R	1.000
18:12325226:G:A	G146D	1.000
18:12325226:G:T	G146V	1.000
18:12325231:G:C	G148R	1.000
18:12325291:A:C	S168R	1.000
18:12325293:C:A	S168R	1.000
18:12325293:C:G	S168R	1.000
18:12325341:T:A	N184K	1.000
18:12325341:T:G	N184K	1.000
18:12325349:T:C	L187P	1.000
18:12325557:C:A	N256K	1.000
18:12325557:C:G	N256K	1.000
18:12325567:T:C	F260L	1.000
18:12325569:C:A	F260L	1.000
18:12325569:C:G	F260L	1.000

dbSNP variants (sampled 300 via entrez): RS1000121745 (18:12306304 A>C), RS1000341690 (18:12309508 A>G), RS1000430022 (18:12322474 C>T), RS1000996202 (18:12311926 TA>T,TAA), RS1001035493 (18:12320632 C>T), RS1001259868 (18:12312223 G>C), RS1001441775 (18:12320223 T>C), RS1001488279 (18:12311543 G>C), RS1001504247 (18:12317638 G>A), RS1001614390 (18:12310784 C>T), RS1001692186 (18:12306021 T>C,G), RS1001707698 (18:12324241 G>A), RS1001821231 (18:12311276 A>C), RS1001953769 (18:12328602 G>A), RS1002218482 (18:12330082 C>T)

Disease associations

OMIM: gene MIM:615103 | disease phenotypes: MIM:617732, MIM:610246

GenCC curated gene-disease

Disease	Classification	Inheritance
facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Limited	Unknown

Mondo (3): facial palsy, congenital, with ptosis and velopharyngeal dysfunction (MONDO:0060589), ptosis (MONDO:0000728), spinocerebellar ataxia type 28 (MONDO:0012450)

Orphanet (1): Spinocerebellar ataxia type 28 (Orphanet:101109)

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000220	Velopharyngeal insufficiency
HP:0000508	Ptosis
HP:0001611	Hypernasal speech
HP:0002015	Dysphagia
HP:0003593	Infantile onset
HP:0003680	Nonprogressive
HP:0010628	Facial palsy
HP:0011469	Nasal regurgitation
HP:0410263	Brain imaging abnormality

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D001763	Blepharoptosis	C11.338.204
C537205	Spinocerebellar ataxia 28 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (4): CHEMBL2095182 (PROTEIN COMPLEX GROUP), CHEMBL3832942 (PROTEIN FAMILY), CHEMBL6066847 (PROTEIN-PROTEIN INTERACTION), CHEMBL6067532 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

21 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,641,397 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL107	COLCHICINE	4	93,932
CHEMBL159	VINBLASTINE	4	412,636
CHEMBL33	LEVOFLOXACIN ANHYDROUS	4	43,403
CHEMBL3545252	DOCETAXEL	4	1,009
CHEMBL364713	NOSCAPINE	4	14,987
CHEMBL378544	VINBLASTINE SULFATE	4	32,829
CHEMBL428647	PACLITAXEL	4	332,542
CHEMBL5315124	LEVOFLOXACIN	4	189
CHEMBL553025	VINORELBINE	4	142,159
CHEMBL571546	TIRBANIBULIN	4	1,192
CHEMBL61	PODOFILOX	4	37,640
CHEMBL90555	VINCRISTINE	4	268,031
CHEMBL92	DOCETAXEL ANHYDROUS	4	196,686
CHEMBL94657	PATUPILONE	3	14,934
CHEMBL20684	ABT-751	2	2,238
CHEMBL292702	MAYTANSINE	2	9,300
CHEMBL39541	DOLASTATIN-10	2	1,380
CHEMBL49642	INDIBULIN	2	963
CHEMBL528271	PARBENDAZOLE	2	6,102
CHEMBL9514	NOCODAZOLE	2	29,245
CHEMBL246600	COMBRETASTATIN	1

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1172 potent at pChembl≥5 of 1323 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.26	IC50	0.0551	nM	CHEMBL5194719
9.75	IC50	0.176	nM	CHEMBL5203711
9.51	IC50	0.308	nM	VINORELBINE
9.30	IC50	0.5	nM	DOLASTATIN-10
8.92	IC50	1.2	nM	CHEMBL5169466
8.85	IC50	1.4	nM	CHEMBL4575066
8.74	IC50	1.8	nM	PATUPILONE
8.59	IC50	2.6	nM	CHEMBL2024544
8.52	Ki	3	nM	COMBRETASTATIN A4
8.52	IC50	3	nM	COMBRETASTATIN A4
8.52	IC50	3	nM	DOLASTATIN-10
8.52	Kd	3	nM	CHEMBL5410715
8.52	IC50	3	nM	COLCHICINE
8.46	IC50	3.5	nM	PATUPILONE
8.38	IC50	4.2	nM	CHEMBL5197739
8.27	IC50	5.4	nM	CHEMBL5280519
8.22	IC50	6	nM	CHEMBL498271
8.05	EC50	9	nM	COMBRETASTATIN A4
8.01	EC50	9.8	nM	COMBRETASTATIN A4
8.01	IC50	9.77	nM	CHEMBL4778826
8.00	Ki	10	nM	CHEMBL381852
8.00	IC50	10	nM	CHEMBL204241
7.96	Kd	11	nM	CHEMBL5611905
7.89	IC50	12.9	nM	COMBRETASTATIN A4
7.85	Kd	14	nM	MAYTANSINE
7.70	IC50	20	nM	CHEMBL2369093
7.70	Ki	20	nM	CHEMBL369927
7.70	IC50	20	nM	CHEMBL5183440
7.70	Kd	20	nM	CHEMBL5613121
7.67	Kd	21.5	nM	CHEMBL4797381
7.64	IC50	23	nM	COMBRETASTATIN A4
7.62	EC50	24	nM	CHEMBL4250191
7.60	IC50	25	nM	CHEMBL552462
7.52	IC50	30	nM	CHEMBL381122
7.52	IC50	30	nM	COMBRETASTATIN A4
7.52	IC50	30	nM	CHEMBL203062
7.52	IC50	30	nM	CHEMBL204710
7.51	EC50	31	nM	PACLITAXEL
7.43	Kd	36.9	nM	CHEMBL4756812
7.40	EC50	40	nM	CHEMBL1688184
7.35	EC50	45	nM	CHEMBL4239716
7.34	IC50	46	nM	CHEMBL374257
7.33	Kd	47	nM	CHEMBL5542101
7.30	Ki	50	nM	CHEMBL196966
7.30	EC50	50	nM	CHEMBL1688183
7.30	EC50	50	nM	CHEMBL1688189
7.29	Kd	51	nM	CHEMBL5614306
7.28	EC50	53	nM	CHEMBL4241638
7.24	Kd	58	nM	COLCHICINE
7.22	Ki	60	nM	CHEMBL198522

PubChem BioAssay actives

1099 with measured affinity, of 5891 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(Z)-1-[4-bromo-2-(4-fluorophenyl)-1-benzofuran-7-yl]-3-(4-methoxyphenyl)prop-2-en-1-one	1882651: Inhibition of tubulin polymerization (unknown origin) measured every 3 secs for 1 hr by spectroflourimetric analysis	ic50	0.0001	uM
(Z)-1-[4-bromo-2-(4-fluorophenyl)-1-benzofuran-7-yl]-3-[4-(trifluoromethoxy)phenyl]prop-2-en-1-one	1882651: Inhibition of tubulin polymerization (unknown origin) measured every 3 secs for 1 hr by spectroflourimetric analysis	ic50	0.0002	uM
Vinorelbine	1993632: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0003	uM
(2S)-2-[[(2S)-2-(dimethylamino)-3-methylbutanoyl]amino]-N-[(3R,4S,5S)-3-methoxy-1-[(2S)-2-[(1R,2R)-1-methoxy-2-methyl-3-oxo-3-[[(1S)-2-phenyl-1-(1,3-thiazol-2-yl)ethyl]amino]propyl]pyrrolidin-1-yl]-5-methyl-1-oxoheptan-4-yl]-N,3-dimethylbutanamide	270819: Inhibition of tubulin polymerization	ic50	0.0005	uM
(2S)-2-[[(2S)-2-(dimethylamino)-3-methylbutanoyl]amino]-N-[(3R,4S,5S)-3-methoxy-1-[(2S)-2-[(1R,2R)-1-methoxy-2-methyl-3-oxo-3-(2-pyridin-2-ylethylamino)propyl]pyrrolidin-1-yl]-5-methyl-1-oxoheptan-4-yl]-N,3-dimethylbutanamide	1896115: Binding affinity to tubulin (unknown origin)	ic50	0.0012	uM
(3Z,6Z)-3-[(5-tert-butyl-1H-imidazol-4-yl)methylidene]-6-phenacylidenepiperazine-2,5-dione	1587857: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0014	uM
(3Z,6Z)-3-[(5-tert-butyl-1H-imidazol-4-yl)methylidene]-6-[(2,5-difluorophenyl)methylidene]piperazine-2,5-dione	1587857: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0026	uM
3-hydroxy-2-[N-[2-(methoxymethyl)-1-benzofuran-7-yl]-C-methylcarbonimidoyl]-5-phenylcyclohex-2-en-1-one	2034736: Displacement of fluorescent probe (R)-(+)-ethyl 5-amino2-methyl-1,2-dihydro-3-phenylpyrido[3,4-b]pyrazin-7-ylcarbamate from tubulin colchicine binding site (unknown origin) assessed as dissociation constant	kd	0.0030	uM
2-methoxy-5-[(Z)-2-(3,4,5-trimethoxyphenyl)ethenyl]phenol	1862628: Inhibition of tubulin polymerization in human HeLa cells assessed as microtubule network polymerization after 30 mins by immunofluorescence analysis	ic50	0.0030	uM
Colchicine	2074087: Inhibition of microtubule polymerization in human K562 cells measured for 60 mins by fluorescence based analysis	ic50	0.0030	uM
(1S,3S,7S,10R,11S,12S,16R)-7,11-dihydroxy-8,8,10,12,16-pentamethyl-3-[(E)-1-(2-methyl-1,3-thiazol-4-yl)prop-1-en-2-yl]-4,17-dioxabicyclo[14.1.0]heptadecane-5,9-dione	1408257: Inhibition of tubulin polymerization in human MCF7 cells assessed as induction of mitotic arrest	ic50	0.0035	uM
tert-butyl (3R,4S,5S)-4-[[(2S)-2-[[(2S)-2-(dimethylamino)-3-methylbutanoyl]amino]-3-methylbutanoyl]-methylamino]-3-methoxy-5-methylheptanoate	1896110: Inhibition of tubulin (unknown origin) polymerization assessed as reduction in microtubule formation measured for 20 mins by spectrophotometric analysis	ic50	0.0042	uM
3-methoxy-6-[4-(3,4,5-trimethoxyphenyl)-1H-pyrazol-5-yl]benzene-1,2-diol	1929685: Inhibition of tubulin polymerization in human SH-SY5Y cells incubated for 24 hrs by SDS-PAGE based analysis	ic50	0.0054	uM
2-methoxy-5-[1-(3,4,5-trimethoxyphenyl)ethenyl]phenol	1862628: Inhibition of tubulin polymerization in human HeLa cells assessed as microtubule network polymerization after 30 mins by immunofluorescence analysis	ic50	0.0060	uM
(E)-1-[1-(4-chlorophenyl)-5-methyltriazol-4-yl]-3-(3,4-dimethoxyphenyl)prop-2-en-1-one	1689700: Inhibition of Tubulin in human RPMI-8226 cells incubated for 2 hrs by ELISA	ic50	0.0098	uM
N-(1,3-benzodioxol-5-yl)-5-[2-(3,5-dimethoxyphenoxy)-3-pyridinyl]-1H-1,2,4-triazol-3-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0100	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[2-(pyridin-2-ylmethylamino)phenyl]-1,3-oxazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0100	uM
[(1S,2R,3S,5R,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] acetate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0110	uM
[(1S,2R,3S,5S,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] (2S)-2-[acetyl(methyl)amino]propanoate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0140	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[2-(3,5-dimethoxyphenoxy)-3-pyridinyl]-1H-1,2,4-triazol-3-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0200	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-(1-diethoxyphosphorylhexylcarbamoyl)-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0200	uM
(E)-3-[5-[(2-cyanoquinolin-4-yl)-methylamino]-2-methoxyphenyl]-N-hydroxyprop-2-enamide	1862628: Inhibition of tubulin polymerization in human HeLa cells assessed as microtubule network polymerization after 30 mins by immunofluorescence analysis	ic50	0.0200	uM
[(1S,2R,3S,5R,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] hept-6-ynoate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0200	uM
(3S)-3-[(5R)-6-[[1-(4-fluorophenyl)triazol-4-yl]methyl]-4-methoxy-7,8-dihydro-5H-[1,3]dioxolo[4,5-g]isoquinolin-5-yl]-6,7-dimethoxy-3H-2-benzofuran-1-one	1675128: Binding affinity to CM5 chip immobilized beta tubulin (unknown origin) assessed as thermodynamic constants by SPR assay	kd	0.0215	uM
N-(4-methoxyphenyl)-N,5-dimethylfuro[2,3-d]pyrimidin-4-amine	1635267: Induction of microtubule depolymerization in human A10 cells incubated for 18 hrs by indirect immunofluorescence analysis	ec50	0.0240	uM
[4-amino-2-(4-methoxyanilino)-1,3-thiazol-5-yl]-(3,4-dimethoxyphenyl)methanone	1674862: Binding affinity to beta tubulin in HEK293 cells assessed as disruption of microtubule polymerization by ITDRF-CETSA assay	ic50	0.0250	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[2-(pyridin-3-ylmethylamino)-3-pyridinyl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0300	uM
N-(1,3-benzodioxol-5-yl)-5-[2-(pyridin-4-ylmethylamino)-3-pyridinyl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0300	uM
N-(1,3-benzodioxol-5-yl)-5-[2-(pyridin-2-ylmethylamino)-3-pyridinyl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0300	uM
Paclitaxel	260235: Effect on induction of mitotic arrest by phosphohistone H3 (pH3) assay	ec50	0.0310	uM
(3S)-3-[(5R)-9-bromo-6-[[1-(4-bromophenyl)triazol-4-yl]methyl]-4-methoxy-7,8-dihydro-5H-[1,3]dioxolo[4,5-g]isoquinolin-5-yl]-6,7-dimethoxy-3H-2-benzofuran-1-one	1675128: Binding affinity to CM5 chip immobilized beta tubulin (unknown origin) assessed as thermodynamic constants by SPR assay	kd	0.0369	uM
6-(3-chloro-6,11,11-trioxobenzo[b][1,4]benzothiazepin-5-yl)-N-hydroxyhexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0400	uM
N,5-dimethyl-N-(4-methylsulfanylphenyl)furo[2,3-d]pyrimidin-4-amine	1635267: Induction of microtubule depolymerization in human A10 cells incubated for 18 hrs by indirect immunofluorescence analysis	ec50	0.0450	uM
[7-(3-hydroxyprop-1-ynyl)-6-methoxy-2H-indazol-3-yl]-(3,4,5-trimethoxyphenyl)methanone	280080: Displacement of [3H]colchicine from tubulin in MCF7 cells	ic50	0.0460	uM
(3S,10R,13E,16S)-10-[(3-chloro-4-methoxyphenyl)methyl]-6,6-dimethyl-3-(2-methylpropyl)-16-[(1S)-1-[(2R,3S)-3-phenyloxiran-2-yl]ethyl]-1,4-dioxa-8,11-diazacyclohexadec-13-ene-2,5,9,12-tetrone	2061859: Binding affinity to tubulin (unknown origin) assessed as dissociation constant by SPR analysis	kd	0.0470	uM
N-hydroxy-6-(3-methoxy-6,11,11-trioxobenzo[b][1,4]benzothiazepin-5-yl)hexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0500	uM
N-hydroxy-6-(6,11,11-trioxobenzo[b][1,4]benzothiazepin-5-yl)hexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0500	uM
5-[2-(3,5-dimethoxyphenoxy)-3-pyridinyl]-N-(3-methoxyphenyl)-1H-1,2,4-triazol-3-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0500	uM
[(1S,2R,3S,5R,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] benzoate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0510	uM
N-ethyl-N-(4-methoxyphenyl)-5-methylfuro[2,3-d]pyrimidin-4-amine	1635267: Induction of microtubule depolymerization in human A10 cells incubated for 18 hrs by indirect immunofluorescence analysis	ec50	0.0530	uM
3-[3-(1,3-benzodioxol-5-ylamino)-1H-1,2,4-triazol-5-yl]-N-(3,5-dimethoxyphenyl)pyridin-2-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0600	uM
Vinblastine	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0700	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-[(1-diethoxyphosphoryl-2-phenylethyl)carbamoyl]-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0700	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[3-(pyridin-2-ylmethylamino)thiophen-2-yl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0750	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-[[(1S)-1-diethoxyphosphorylethyl]carbamoyl]-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0800	uM
4-methoxy-2-[(Z)-2-(3,4,5-trimethoxyphenyl)ethenyl]thiophene	1267532: Inhibition of Tubulin polymerization in human HeLa cells assessed as decrease in dynamic tyrosinated microtubules after 2 hrs by microplate reader analysis	ec50	0.0810	uM
N-[2-[[(E)-(2,4-dihydroxyphenyl)methylideneamino]carbamoyl]phenyl]furan-2-carboxamide	1882654: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0876	uM
N-hydroxy-6-(3-methoxy-6-oxobenzo[b][1,4]benzoxazepin-5-yl)hexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0900	uM
N-(3,5-dimethoxyphenyl)-3-[3-(3-methoxyanilino)-1H-1,2,4-triazol-5-yl]pyridin-2-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.1000	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-[[(1R)-1-diethoxyphosphoryl-2-(1H-indol-3-yl)ethyl]carbamoyl]-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.1000	uM

CTD chemical–gene interactions

72 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	8
Valproic Acid	increases expression, affects expression, increases methylation, affects cotreatment	5
bisphenol A	affects expression, increases expression	4
Aflatoxin B1	affects expression, increases expression	4
sodium arsenite	affects methylation, decreases expression, increases expression	3
Cyclosporine	increases expression	3
Cadmium Chloride	increases abundance, increases palmitoylation, decreases expression, increases expression, increases methylation (+1 more)	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	3
methylmercuric chloride	increases expression	2
cupric oxide	decreases expression	2
perfluorooctane sulfonic acid	affects expression, affects cotreatment, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Arsenic	affects methylation, increases ubiquitination	2
Doxorubicin	increases expression, affects expression	2
Estradiol	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	affects cotreatment, affects expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
glycidyl methacrylate	increases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
decabromobiphenyl ether	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
2-bromopalmitate	increases abundance, increases palmitoylation, decreases reaction	1
perfluorooctanoic acid	affects cotreatment, affects expression	1

ChEMBL screening assays

1757 unique, capped per target: 1717 binding, 34 functional, 6 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1009021	Binding	Inhibition of tubulin polymerization in human MCF7 cells at 1 uM after 2 hrs by SDS-PAGE	A new cytotoxic epothilone from modified polyketide synthases heterologously expressed in Myxococcus xanthus. — J Nat Prod
CHEMBL4146506	ADMET	Inhibition of tubulin polymerization in human HaCaT cells assessed as chromatin condensation at 1 uM after 24 hrs by Hoechst 33258 staining-based fluorescence microscopic analysis	Design, synthesis, and biological evaluation of novel combretastatin A-4 thio derivatives as microtubule targeting agents. — Eur J Med Chem
CHEMBL5056161	Functional	Inhibition of tubulin polymerization (unknown origin) assessed as fluorescence intensity measured for 90 mins by DAPI based microplate reader	Design, synthesis and biological evaluation of indole-based [1,2,4]triazolo[4,3-a] pyridine derivatives as novel microtubule polymerization inhibitors. — Eur J Med Chem

Clinical trials (associated diseases)

45 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00793988	PHASE4	COMPLETED	Vibration-Assisted Anaesthesia
NCT01239498	PHASE4	UNKNOWN	Saline Injection - Assisted Anesthesia in Eyelid Surgery
NCT02761083	PHASE4	WITHDRAWN	PMCF-study Using Novosyn® Quick Suture Material in Ophthalmic Surgery
NCT04007276	PHASE4	NOT_YET_RECRUITING	The Effect of Lumify™ on Ocular Redness, Intraocular Pressure, and Eyelid Position in Glaucoma Patients
NCT07390578	PHASE4	NOT_YET_RECRUITING	Upneeq vs. Lumify Ptosis
NCT02436759	PHASE3	COMPLETED	Study of the Safety and Efficacy of RVL-1201 in the Treatment of Acquired Blepharoptosis
NCT03536949	PHASE3	COMPLETED	Study of Safety of RVL-1201 in Treatment of Blepharoptosis
NCT03565887	PHASE3	COMPLETED	Study of Safety and Efficacy of RVL-1201 in the Treatment of Blepharoptosis
NCT05945615	PHASE3	COMPLETED	Oxymetazoline Drops for Acquired Blepharoptosis From Synkinesis
NCT06683651	PHASE3	RECRUITING	A Study in Chinese Patients With Acquired Blepharoptosis
NCT03266081	PHASE2	WITHDRAWN	Bupivacaine Epiphora Trial
NCT02878694	PHASE2/PHASE3	TERMINATED	Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft
NCT05358977	PHASE2/PHASE3	UNKNOWN	Fibrin Sealant in Eyelid Surgery
NCT01848041	PHASE1/PHASE2	COMPLETED	Safety and Efficacy Study of RVL-1201 in Acquired Blepharoptosis
NCT05715346	PHASE1/PHASE2	COMPLETED	LEV102 Topical Gel in Acquired Blepharoptosis
NCT04807855	EARLY_PHASE1	COMPLETED	Custom Print Megnetic Levator Prosthesis Pilot Comparison
NCT06911216	EARLY_PHASE1	COMPLETED	A Pharmacokinetics (PK) Study in Healthy Adults
NCT00816270	Not specified	TERMINATED	Liquid Bandage (2-Octyl-Cyanoacrylate) in Upper Lid Blepharoplasty
NCT00864656	Not specified	COMPLETED	Eyelid Position Interdependence in Involutional Ptosis Patients Submitted to 10% Phenylephrine
NCT01350024	Not specified	COMPLETED	Comparison of Postoperative Pain With Two Different Types of Local Anesthesia in Surgery for a Drooping Eyelid
NCT01430247	Not specified	COMPLETED	Vision Screening for the Detection of Amblyopia
NCT01968174	Not specified	UNKNOWN	Astigmatic Changes Secondary to Eyelid Surgeries
NCT02201979	Not specified	COMPLETED	Laser Fluorescent Imaging of Nipple and Areola During Breast Lift
NCT02226016	Not specified	UNKNOWN	Levator Muscle Strength Evaluation
NCT02367677	Not specified	COMPLETED	Digital Photographs to Evaluate Blepharoptosis
NCT02376556	Not specified	COMPLETED	The Effect of Eyelid Surgery on Dry Eye - a Prospective Study
NCT02501187	Not specified	UNKNOWN	Risk of Dry Eye Post Different Surgeries for Blepharoptosis Repair
NCT02638610	Not specified	UNKNOWN	Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries
NCT02959697	Not specified	UNKNOWN	Subconjunctival Injection of Local Anesthetic in Anterior Blepharoptosis Repair
NCT02988856	Not specified	COMPLETED	Magnetic Correction of Eye Lid Paralysis
NCT03149367	Not specified	UNKNOWN	Surgical Management of Blepharoptosis
NCT03239418	Not specified	TERMINATED	NMES to Improve Eyelid Functions in Cranial Nerve (CN) III and VII Palsy
NCT03375879	Not specified	UNKNOWN	Bandage Contact Lens in Post Operative Ptosis Patients
NCT03812016	Not specified	RECRUITING	A Feedback-enabled Magnetic Device for Temporary Management of Blepharoptosis
NCT03818204	Not specified	COMPLETED	Clinical Trial to Improve the Magnetic Levator Prosthesis
NCT04214379	Not specified	COMPLETED	Management of Severe Congenital Blepharoptosis
NCT04235803	Not specified	UNKNOWN	Telemedicine Follow-up for Routine, Low-Risk Oculoplastic Surgery
NCT04678115	Not specified	COMPLETED	Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis
NCT04714424	Not specified	COMPLETED	Comparing Vision Tests in a Virtual Reality Headset to Existing Analogues
NCT04883853	Not specified	COMPLETED	A Newly Modified Technique for Levator Muscle Tucking in Blepharoptosis Surgery: An Egyptian Tertiary Center Study