Tubulinopathy
disease diseaseOn this page
Summary
Tubulinopathy (MONDO:0100153) is a disease with 3 cohort genes. The dominant Reactome pathway is Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane (3 cohort genes).
At a glance
- Cohort genes: 3
- ClinVar variants: 117
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | tubulinopathy |
| Mondo ID | MONDO:0100153 |
| DOID | DOID:0112227 |
| Is cancer (heuristic) | no |
Data availability: 117 ClinVar variants.
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › tubulinopathy
Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, developmental disability, restless legs syndrome, movement disorder, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, locked-in syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, AA amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, nervous system injury, neurosarcoidosis, neuroendocrine disorder, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, neurodevelopmental disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction
Subtypes (4): complex cortical dysplasia with other brain malformations 5, tubulinopathy-associated dysgyria, Uner Tan Syndrome, TUBB3-related tubulinopathy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
117 retrieved; paginated sample, class counts are floors:
39 pathogenic, 35 pathogenic/likely pathogenic, 31 likely pathogenic, 12 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 160143 | NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160146 | NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160147 | NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) | TUBA1A | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 160148 | NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160158 | NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160161 | NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160164 | NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160167 | NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) | TUBA1A | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 208490 | NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 212488 | NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 217023 | NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 265378 | NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 287392 | NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 372542 | NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 379329 | NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 381537 | NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln) | TUBA1A | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 384538 | NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 418531 | NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 420581 | NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 423490 | NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 426640 | NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 427180 | NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 427202 | NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 432708 | NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 437122 | NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 438298 | NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) | TUBA1A | Pathogenic | criteria provided, single submitter |
| 438589 | NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 449342 | NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 450183 | NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 488628 | NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) | TUBA1A | Pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TUBA1A | Orphanet:171680 | Lissencephaly due to TUBA1A mutation |
| TUBA1A | Orphanet:45358 | Congenital fibrosis of extraocular muscles |
| TUBA1A | Orphanet:467166 | Tubulinopathy-associated dysgyria |
| TUBA1A | Orphanet:994 | Fetal akinesia deformation sequence |
| TUBB2B | Orphanet:1766 | Dysequilibrium syndrome |
| TUBB2B | Orphanet:300573 | Polymicrogyria due to TUBB2B mutation |
| TUBB2B | Orphanet:45358 | Congenital fibrosis of extraocular muscles |
| TUBB2B | Orphanet:467166 | Tubulinopathy-associated dysgyria |
Cohort genes → proteins
3 cohort genes, 3 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 3 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TUBB2A | HGNC:12412 | ENSG00000137267 | Q13885 | Tubulin beta-2A chain | clinvar |
| TUBA1A | HGNC:20766 | ENSG00000167552 | Q71U36 | Tubulin alpha-1A chain | clinvar |
| TUBB2B | HGNC:30829 | ENSG00000137285 | Q9BVA1 | Tubulin beta-2B chain | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TUBB2A | Tubulin beta-2A chain | Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. |
| TUBA1A | Tubulin alpha-1A chain | Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. |
| TUBB2B | Tubulin beta-2B chain | Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 3 | 1.8× | 0.174 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TUBB2A | Other/Unknown | no | Tubulin, Beta_tubulin, Tubulin_FtsZ_GTPase | |
| TUBA1A | Other/Unknown | no | Tubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase | |
| TUBB2B | Other/Unknown | no | Tubulin, Beta_tubulin, Tubulin_FtsZ_GTPase |
Expression context
Cohort genes with no expression data: 0.
3 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 3 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| endothelial cell | 2 |
| cortical plate | 2 |
| ganglionic eminence | 2 |
| dorsal root ganglion | 1 |
| pons | 1 |
| ventricular zone | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TUBB2A | 293 | ubiquitous | marker | endothelial cell, dorsal root ganglion, pons |
| TUBA1A | 288 | ubiquitous | marker | endothelial cell, cortical plate, ganglionic eminence |
| TUBB2B | 265 | ubiquitous | marker | cortical plate, ganglionic eminence, ventricular zone |
Protein interactions among cohort
Intra-cohort edges: 2.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TUBB2A | 5,621 |
| TUBB2B | 4,736 |
| TUBA1A | 1,436 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| TUBA1A | TUBB2B | intact |
| TUBB2A | TUBB2B | intact |
Structural data
PDB: 3 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TUBA1A | Q71U36 | 15 |
| TUBB2A | Q13885 | 3 |
| TUBB2B | Q9BVA1 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 93. Enrichment computed across 3 evidence-associated genes (3 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane | 3 | 543.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Transport of connexons to the plasma membrane | 3 | 543.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Gap junction trafficking and regulation | 3 | 475.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Gap junction trafficking | 3 | 475.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Post-chaperonin tubulin folding pathway | 3 | 475.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Formation of tubulin folding intermediates by CCT/TriC | 3 | 423.0× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 3 | 407.9× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Prefoldin mediated transfer of substrate to CCT/TriC | 3 | 393.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Activation of AMPK downstream of NMDARs | 3 | 380.7× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| RHO GTPases activate IQGAPs | 3 | 346.1× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Sealing of the nuclear envelope (NE) by ESCRT-III | 3 | 346.1× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| HCMV Infection | 3 | 326.3× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Chaperonin-mediated protein folding | 3 | 300.5× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Gap junction assembly | 3 | 292.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Nuclear Envelope (NE) Reassembly | 3 | 292.8× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Selective autophagy | 3 | 278.5× | 2e-07 | TUBB2A, TUBA1A, TUBB2B |
| Protein folding | 3 | 259.6× | 3e-07 | TUBB2A, TUBA1A, TUBB2B |
| Assembly and cell surface presentation of NMDA receptors | 3 | 253.8× | 3e-07 | TUBB2A, TUBA1A, TUBB2B |
| Cargo trafficking to the periciliary membrane | 3 | 248.3× | 3e-07 | TUBB2A, TUBA1A, TUBB2B |
| Aggrephagy | 3 | 248.3× | 3e-07 | TUBB2A, TUBA1A, TUBB2B |
| Carboxyterminal post-translational modifications of tubulin | 3 | 237.9× | 3e-07 | TUBB2A, TUBA1A, TUBB2B |
| Recycling pathway of L1 | 3 | 223.9× | 4e-07 | TUBB2A, TUBA1A, TUBB2B |
| COPI-independent Golgi-to-ER retrograde traffic | 3 | 207.6× | 4e-07 | TUBB2A, TUBA1A, TUBB2B |
| Post NMDA receptor activation events | 3 | 203.9× | 4e-07 | TUBB2A, TUBA1A, TUBB2B |
| Intraflagellar transport | 3 | 200.3× | 4e-07 | TUBB2A, TUBA1A, TUBB2B |
| Antimicrobial mechanism of IFN-stimulated genes | 3 | 196.9× | 4e-07 | TUBB2A, TUBA1A, TUBB2B |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 3 | 193.6× | 5e-07 | TUBB2A, TUBA1A, TUBB2B |
| Activation of NMDA receptors and postsynaptic events | 3 | 184.2× | 5e-07 | TUBB2A, TUBA1A, TUBB2B |
| Signaling by Hedgehog | 3 | 184.2× | 5e-07 | TUBB2A, TUBA1A, TUBB2B |
| Hedgehog ‘off’ state | 3 | 178.4× | 5e-07 | TUBB2A, TUBA1A, TUBB2B |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cerebral cortex development | 3 | 205.5× | 4e-06 | TUBB2A, TUBA1A, TUBB2B |
| mitotic cell cycle | 3 | 133.8× | 5e-06 | TUBB2A, TUBA1A, TUBB2B |
| neuron migration | 3 | 133.8× | 5e-06 | TUBB2A, TUBA1A, TUBB2B |
| microtubule cytoskeleton organization | 3 | 121.2× | 5e-06 | TUBB2A, TUBA1A, TUBB2B |
| microtubule-based process | 2 | 660.9× | 2e-05 | TUBA1A, TUBB2B |
| positive regulation of axon guidance | 1 | 2808.7× | 0.002 | TUBB2B |
| pyramidal neuron differentiation | 1 | 1123.5× | 0.005 | TUBA1A |
| cerebellar cortex morphogenesis | 1 | 936.2× | 0.005 | TUBA1A |
| neuron projection arborization | 1 | 624.1× | 0.007 | TUBA1A |
| response to L-glutamate | 1 | 561.7× | 0.007 | TUBA1A |
| forebrain morphogenesis | 1 | 468.1× | 0.007 | TUBA1A |
| organelle transport along microtubule | 1 | 401.2× | 0.007 | TUBA1A |
| startle response | 1 | 374.5× | 0.007 | TUBA1A |
| locomotory exploration behavior | 1 | 330.4× | 0.007 | TUBA1A |
| cytoskeleton-dependent intracellular transport | 1 | 312.1× | 0.007 | TUBA1A |
| glial cell differentiation | 1 | 295.6× | 0.007 | TUBA1A |
| microtubule polymerization | 1 | 295.6× | 0.007 | TUBA1A |
| embryonic brain development | 1 | 267.5× | 0.008 | TUBB2B |
| regulation of synapse organization | 1 | 216.1× | 0.008 | TUBA1A |
| dentate gyrus development | 1 | 208.1× | 0.008 | TUBA1A |
| response to tumor necrosis factor | 1 | 208.1× | 0.008 | TUBA1A |
| motor behavior | 1 | 187.2× | 0.009 | TUBA1A |
| homeostasis of number of cells within a tissue | 1 | 147.8× | 0.011 | TUBA1A |
| centrosome cycle | 1 | 112.3× | 0.014 | TUBA1A |
| visual learning | 1 | 102.1× | 0.014 | TUBA1A |
| adult locomotory behavior | 1 | 100.3× | 0.014 | TUBA1A |
| response to mechanical stimulus | 1 | 100.3× | 0.014 | TUBA1A |
| synapse organization | 1 | 93.6× | 0.014 | TUBA1A |
| cellular response to calcium ion | 1 | 66.9× | 0.018 | TUBA1A |
| neuron apoptotic process | 1 | 61.7× | 0.018 | TUBA1A |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 0
Druggability breadth: 3 of 3 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| TUBB2A | COLCHICINE |
| TUBA1A | COLCHICINE |
| TUBB2B | COLCHICINE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TUBA1A | 22 | 4 |
| TUBB2A | 21 | 4 |
| TUBB2B | 21 | 4 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| COLCHICINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINBLASTINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| LEVOFLOXACIN ANHYDROUS | 4 | TUBA1A, TUBB2A, TUBB2B |
| DOCETAXEL | 4 | TUBA1A, TUBB2A, TUBB2B |
| NOSCAPINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINBLASTINE SULFATE | 4 | TUBA1A, TUBB2A, TUBB2B |
| PACLITAXEL | 4 | TUBA1A, TUBB2A, TUBB2B |
| LEVOFLOXACIN | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINORELBINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| TIRBANIBULIN | 4 | TUBA1A, TUBB2A, TUBB2B |
| PODOFILOX | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINCRISTINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| DOCETAXEL ANHYDROUS | 4 | TUBA1A, TUBB2A, TUBB2B |
| PATUPILONE | 3 | TUBA1A, TUBB2A, TUBB2B |
| ABT-751 | 2 | TUBA1A, TUBB2A, TUBB2B |
| MAYTANSINE | 2 | TUBA1A, TUBB2A, TUBB2B |
| DOLASTATIN-10 | 2 | TUBA1A, TUBB2A, TUBB2B |
| INDIBULIN | 2 | TUBA1A, TUBB2A, TUBB2B |
| PARBENDAZOLE | 2 | TUBA1A, TUBB2A, TUBB2B |
| NOCODAZOLE | 2 | TUBA1A, TUBB2A, TUBB2B |
| MOLIBRESIB | 2 | TUBA1A |
| COMBRETASTATIN | 1 | TUBA1A, TUBB2A, TUBB2B |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| TUBB2A | 1,758 | Binding:1718, Functional:34, ADMET:6 |
| TUBB2B | 1,757 | Binding:1717, Functional:34, ADMET:6 |
| TUBA1A | 1,696 | Binding:1655, Functional:35, ADMET:6 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| TUBB2A | 1,758 |
| TUBA1A | 1,696 |
| TUBB2B | 1,757 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
22 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| COLCHICINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINBLASTINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| LEVOFLOXACIN ANHYDROUS | 4 | TUBA1A, TUBB2A, TUBB2B |
| DOCETAXEL | 4 | TUBA1A, TUBB2A, TUBB2B |
| NOSCAPINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINBLASTINE SULFATE | 4 | TUBA1A, TUBB2A, TUBB2B |
| PACLITAXEL | 4 | TUBA1A, TUBB2A, TUBB2B |
| LEVOFLOXACIN | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINORELBINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| TIRBANIBULIN | 4 | TUBA1A, TUBB2A, TUBB2B |
| PODOFILOX | 4 | TUBA1A, TUBB2A, TUBB2B |
| VINCRISTINE | 4 | TUBA1A, TUBB2A, TUBB2B |
| DOCETAXEL ANHYDROUS | 4 | TUBA1A, TUBB2A, TUBB2B |
| PATUPILONE | 3 | TUBA1A, TUBB2A, TUBB2B |
| ABT-751 | 2 | TUBA1A, TUBB2A, TUBB2B |
| MAYTANSINE | 2 | TUBA1A, TUBB2A, TUBB2B |
| DOLASTATIN-10 | 2 | TUBA1A, TUBB2A, TUBB2B |
| INDIBULIN | 2 | TUBA1A, TUBB2A, TUBB2B |
| PARBENDAZOLE | 2 | TUBA1A, TUBB2A, TUBB2B |
| NOCODAZOLE | 2 | TUBA1A, TUBB2A, TUBB2B |
| MOLIBRESIB | 2 | TUBA1A |
| COMBRETASTATIN | 1 | TUBA1A, TUBB2A, TUBB2B |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | TUBB2A, TUBA1A, TUBB2B |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
Clinical trials & evidence
Clinical trials
Clinical trials: 0.