Tubulinopathy-associated dysgyria
diseaseOn this page
Also known as brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Summary
Tubulinopathy-associated dysgyria (MONDO:0018763) 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
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Cohort genes: 3
- ClinVar variants: 9
- Phenotypes (HPO): 24
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 7 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
24 HPO clinical features (Orphanet curated; top 24 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0001273 | Abnormal corpus callosum morphology | Very frequent (80-99%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Very frequent (80-99%) |
| HP:0002363 | Abnormal brainstem morphology | Very frequent (80-99%) |
| HP:0010663 | Abnormality of thalamus morphology | Very frequent (80-99%) |
| HP:0012110 | Hypoplasia of the pons | Very frequent (80-99%) |
| HP:0012502 | Abnormality of the internal capsule | Very frequent (80-99%) |
| HP:0032398 | Dysgyria | Very frequent (80-99%) |
| HP:0000486 | Strabismus | Frequent (30-79%) |
| HP:0000657 | Oculomotor apraxia | Frequent (30-79%) |
| HP:0001302 | Pachygyria | Frequent (30-79%) |
| HP:0002119 | Ventriculomegaly | Frequent (30-79%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (30-79%) |
| HP:0012547 | Abnormal involuntary eye movements | Frequent (30-79%) |
| HP:0031882 | Agyria | Frequent (30-79%) |
| HP:0040327 | Abnormal morphology of the olfactory bulb | Frequent (30-79%) |
| HP:0000256 | Macrocephaly | Occasional (5-29%) |
| HP:0001251 | Ataxia | Occasional (5-29%) |
| HP:0001252 | Hypotonia | Occasional (5-29%) |
| HP:0001488 | Bilateral ptosis | Occasional (5-29%) |
| HP:0002121 | Generalized non-motor (absence) seizure | Occasional (5-29%) |
| HP:0012469 | Infantile spasms | Occasional (5-29%) |
| HP:0020214 | Startle-induced seizure | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | tubulinopathy-associated dysgyria |
| Mondo ID | MONDO:0018763 |
| Orphanet | 467166 |
| UMLS | C5568850 |
| MedGen | 1800273 |
| GARD | 0021944 |
| Is cancer (heuristic) | no |
Also known as: brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Data availability: 9 ClinVar variants · 3 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system malformation › tubulinopathy-associated dysgyria
Related subtypes (53): craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome, Aase-Smith syndrome, arachnoid cyst, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, Dandy-Walker malformation-postaxial polydactyly syndrome, cervical hypertrichosis-peripheral neuropathy syndrome, Joubert syndrome with oculorenal defect, NPHP3-related Meckel-like syndrome, orofaciodigital syndrome type 6, X-linked intellectual disability-cerebellar hypoplasia syndrome, syndromic X-linked intellectual disability Najm type, X-linked cerebral-cerebellar-coloboma syndrome syndrome, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, aprosencephaly cerebellar dysgenesis, Gomez-Lopez-Hernandez syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, pontine tegmental cap dysplasia, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, cerebellar-facial-dental syndrome, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal recessive spinocerebellar ataxia 20, SLC39A8-CDG, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, TELO2-related intellectual disability-neurodevelopmental disorder, isolated cerebellar vermis hypoplasia, cerebral gigantism-jaw cysts syndrome, holoprosencephaly-caudal dysgenesis syndrome, Joubert syndrome with ocular defect, macrocephaly-short stature-paraplegia syndrome, glioependymal/ependymal cyst, isolated cerebellar vermis agenesis, isolated unilateral hemispheric cerebellar hypoplasia, isolated bilateral hemispheric cerebellar hypoplasia, Hoyeraal-Hreidarsson syndrome, neural tube defect, partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, rhombencephalosynapsis, Lhermitte-Duclos disease, Ritscher-Schinzel syndrome, spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome, cystic malformation of the posterior fossa, pontocerebellar hypoplasia, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, hereditary cerebral malformation, isolated arhinencephaly
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
9 retrieved; paginated sample, class counts are floors:
3 pathogenic/likely pathogenic, 3 pathogenic, 3 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1206718 | NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1330376 | NM_006009.4(TUBA1A):c.656T>C (p.Ile219Thr) | TUBA1A | Pathogenic | criteria provided, single submitter |
| 1330377 | NM_006009.4(TUBA1A):c.1264C>A (p.Arg422Ser) | TUBA1A | Pathogenic | criteria provided, single submitter |
| 160161 | NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 7071 | NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) | TUBA1A | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 873446 | NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val) | TUBA1A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 160159 | NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) | TUBA1A | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 372561 | NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) | TUBA1A | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 625511 | NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) | TUBA1A | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 27 · Orphanet: 11 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| TUBA1A | Supportive | Autosomal dominant | tubulinopathy-associated dysgyria | 7 |
| TUBB2B | Supportive | Autosomal dominant | tubulinopathy-associated dysgyria | 9 |
| TUBB3 | Supportive | Autosomal dominant | tubulinopathy-associated dysgyria | 11 |
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 |
| TUBB3 | Orphanet:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
| TUBB3 | Orphanet:45358 | Congenital fibrosis of extraocular muscles |
| TUBB3 | Orphanet:467166 | Tubulinopathy-associated dysgyria |
| 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 |
|---|---|---|---|---|---|
| TUBA1A | HGNC:20766 | ENSG00000167552 | Q71U36 | Tubulin alpha-1A chain | gencc,clinvar |
| TUBB3 | HGNC:20772 | ENSG00000258947 | Q13509 | Tubulin beta-3 chain | gencc |
| TUBB2B | HGNC:30829 | ENSG00000137285 | Q9BVA1 | Tubulin beta-2B chain | gencc |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| 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. |
| TUBB3 | Tubulin beta-3 chain | Tubulin is the major constituent of microtubules, protein filaments consisting 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) |
|---|---|---|---|---|
| TUBA1A | Other/Unknown | no | Tubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase | |
| TUBB3 | Other/Unknown | no | Tubulin, Beta_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 |
|---|---|
| cortical plate | 3 |
| ganglionic eminence | 3 |
| endothelial cell | 1 |
| embryo | 1 |
| ventricular zone | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TUBA1A | 288 | ubiquitous | marker | endothelial cell, cortical plate, ganglionic eminence |
| TUBB3 | 144 | ubiquitous | marker | cortical plate, ganglionic eminence, embryo |
| TUBB2B | 265 | ubiquitous | marker | cortical plate, ganglionic eminence, ventricular zone |
Protein interactions among cohort
Intra-cohort edges: 3.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TUBB3 | 6,797 |
| TUBB2B | 4,736 |
| TUBA1A | 1,436 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| TUBA1A | TUBB2B | intact |
| TUBA1A | TUBB3 | intact |
| TUBB2B | TUBB3 | biogrid_interaction |
Structural data
PDB: 3 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TUBB3 | Q13509 | 28 |
| TUBA1A | Q71U36 | 15 |
| 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 | TUBA1A, TUBB3, TUBB2B |
| Transport of connexons to the plasma membrane | 3 | 543.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Gap junction trafficking and regulation | 3 | 475.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Gap junction trafficking | 3 | 475.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Post-chaperonin tubulin folding pathway | 3 | 475.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Formation of tubulin folding intermediates by CCT/TriC | 3 | 423.0× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 3 | 407.9× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Prefoldin mediated transfer of substrate to CCT/TriC | 3 | 393.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Activation of AMPK downstream of NMDARs | 3 | 380.7× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| RHO GTPases activate IQGAPs | 3 | 346.1× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Sealing of the nuclear envelope (NE) by ESCRT-III | 3 | 346.1× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| HCMV Infection | 3 | 326.3× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Chaperonin-mediated protein folding | 3 | 300.5× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Gap junction assembly | 3 | 292.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Nuclear Envelope (NE) Reassembly | 3 | 292.8× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Selective autophagy | 3 | 278.5× | 2e-07 | TUBA1A, TUBB3, TUBB2B |
| Protein folding | 3 | 259.6× | 3e-07 | TUBA1A, TUBB3, TUBB2B |
| Assembly and cell surface presentation of NMDA receptors | 3 | 253.8× | 3e-07 | TUBA1A, TUBB3, TUBB2B |
| Cargo trafficking to the periciliary membrane | 3 | 248.3× | 3e-07 | TUBA1A, TUBB3, TUBB2B |
| Aggrephagy | 3 | 248.3× | 3e-07 | TUBA1A, TUBB3, TUBB2B |
| Carboxyterminal post-translational modifications of tubulin | 3 | 237.9× | 3e-07 | TUBA1A, TUBB3, TUBB2B |
| Recycling pathway of L1 | 3 | 223.9× | 4e-07 | TUBA1A, TUBB3, TUBB2B |
| COPI-independent Golgi-to-ER retrograde traffic | 3 | 207.6× | 4e-07 | TUBA1A, TUBB3, TUBB2B |
| Post NMDA receptor activation events | 3 | 203.9× | 4e-07 | TUBA1A, TUBB3, TUBB2B |
| Intraflagellar transport | 3 | 200.3× | 4e-07 | TUBA1A, TUBB3, TUBB2B |
| Antimicrobial mechanism of IFN-stimulated genes | 3 | 196.9× | 4e-07 | TUBA1A, TUBB3, TUBB2B |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 3 | 193.6× | 5e-07 | TUBA1A, TUBB3, TUBB2B |
| Activation of NMDA receptors and postsynaptic events | 3 | 184.2× | 5e-07 | TUBA1A, TUBB3, TUBB2B |
| Signaling by Hedgehog | 3 | 184.2× | 5e-07 | TUBA1A, TUBB3, TUBB2B |
| Hedgehog ‘off’ state | 3 | 178.4× | 5e-07 | TUBA1A, TUBB3, 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 |
|---|---|---|---|---|
| mitotic cell cycle | 3 | 133.8× | 1e-05 | TUBA1A, TUBB3, TUBB2B |
| microtubule cytoskeleton organization | 3 | 121.2× | 1e-05 | TUBA1A, TUBB3, TUBB2B |
| microtubule-based process | 2 | 660.9× | 4e-05 | TUBA1A, TUBB2B |
| cerebral cortex development | 2 | 137.0× | 7e-04 | TUBA1A, TUBB2B |
| neuron migration | 2 | 89.2× | 0.001 | TUBA1A, TUBB2B |
| positive regulation of axon guidance | 1 | 2808.7× | 0.002 | TUBB2B |
| pyramidal neuron differentiation | 1 | 1123.5× | 0.004 | TUBA1A |
| dorsal root ganglion development | 1 | 1123.5× | 0.004 | TUBB3 |
| cerebellar cortex morphogenesis | 1 | 936.2× | 0.005 | TUBA1A |
| neuron projection arborization | 1 | 624.1× | 0.006 | TUBA1A |
| response to L-glutamate | 1 | 561.7× | 0.006 | 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× | 0.009 | TUBA1A |
| dentate gyrus development | 1 | 208.1× | 0.009 | TUBA1A |
| response to tumor necrosis factor | 1 | 208.1× | 0.009 | 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× | 0.019 | 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 |
|---|---|
| TUBA1A | COLCHICINE |
| TUBB3 | COLCHICINE |
| TUBB2B | COLCHICINE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TUBA1A | 22 | 4 |
| TUBB3 | 21 | 4 |
| TUBB2B | 21 | 4 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| COLCHICINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINBLASTINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| LEVOFLOXACIN ANHYDROUS | 4 | TUBA1A, TUBB2B, TUBB3 |
| DOCETAXEL | 4 | TUBA1A, TUBB2B, TUBB3 |
| NOSCAPINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINBLASTINE SULFATE | 4 | TUBA1A, TUBB2B, TUBB3 |
| PACLITAXEL | 4 | TUBA1A, TUBB2B, TUBB3 |
| LEVOFLOXACIN | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINORELBINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| TIRBANIBULIN | 4 | TUBA1A, TUBB2B, TUBB3 |
| PODOFILOX | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINCRISTINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| DOCETAXEL ANHYDROUS | 4 | TUBA1A, TUBB2B, TUBB3 |
| PATUPILONE | 3 | TUBA1A, TUBB2B, TUBB3 |
| ABT-751 | 2 | TUBA1A, TUBB2B, TUBB3 |
| MAYTANSINE | 2 | TUBA1A, TUBB2B, TUBB3 |
| DOLASTATIN-10 | 2 | TUBA1A, TUBB2B, TUBB3 |
| INDIBULIN | 2 | TUBA1A, TUBB2B, TUBB3 |
| PARBENDAZOLE | 2 | TUBA1A, TUBB2B, TUBB3 |
| NOCODAZOLE | 2 | TUBA1A, TUBB2B, TUBB3 |
| MOLIBRESIB | 2 | TUBA1A |
| COMBRETASTATIN | 1 | TUBA1A, TUBB2B, TUBB3 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| TUBB3 | 1,781 | Binding:1741, 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 |
|---|---|
| TUBA1A | 1,696 |
| TUBB3 | 1,781 |
| 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, TUBB2B, TUBB3 |
| VINBLASTINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| LEVOFLOXACIN ANHYDROUS | 4 | TUBA1A, TUBB2B, TUBB3 |
| DOCETAXEL | 4 | TUBA1A, TUBB2B, TUBB3 |
| NOSCAPINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINBLASTINE SULFATE | 4 | TUBA1A, TUBB2B, TUBB3 |
| PACLITAXEL | 4 | TUBA1A, TUBB2B, TUBB3 |
| LEVOFLOXACIN | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINORELBINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| TIRBANIBULIN | 4 | TUBA1A, TUBB2B, TUBB3 |
| PODOFILOX | 4 | TUBA1A, TUBB2B, TUBB3 |
| VINCRISTINE | 4 | TUBA1A, TUBB2B, TUBB3 |
| DOCETAXEL ANHYDROUS | 4 | TUBA1A, TUBB2B, TUBB3 |
| PATUPILONE | 3 | TUBA1A, TUBB2B, TUBB3 |
| ABT-751 | 2 | TUBA1A, TUBB2B, TUBB3 |
| MAYTANSINE | 2 | TUBA1A, TUBB2B, TUBB3 |
| DOLASTATIN-10 | 2 | TUBA1A, TUBB2B, TUBB3 |
| INDIBULIN | 2 | TUBA1A, TUBB2B, TUBB3 |
| PARBENDAZOLE | 2 | TUBA1A, TUBB2B, TUBB3 |
| NOCODAZOLE | 2 | TUBA1A, TUBB2B, TUBB3 |
| MOLIBRESIB | 2 | TUBA1A |
| COMBRETASTATIN | 1 | TUBA1A, TUBB2B, TUBB3 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | TUBA1A, TUBB3, 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.