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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TUBB
tubulin beta class I
Chromosome 6 Β· 6p21.33
NCBI Gene: 203068Ensembl: ENSG00000183311.16HGNC: HGNC:20778UniProt: B4DMJ5
516PubMed Papers
2Diseases
0Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
odontoblast differentiationprotein bindingubiquitin protein ligase bindingMHC class I protein bindingCortical dysplasia, complex, with other brain malformations 6Skin creases, congenital symmetric circumferential, 1
✦AI Summary

TUBB (tubulin beta class I) is a fundamental structural protein that forms the major constituent of microtubules, cylindrical structures composed of laterally associated alpha- and beta-tubulin heterodimers 1. TUBB functions by incorporating GTP-bound dimers at microtubule ends to stabilize a growing cap, with GDP-bound dimers accumulating below due to alpha-tubulin's GTPase activity, enabling dynamic microtubule polymerization and depolymerization 1. TUBB plays critical roles in diverse cellular processes including microtubule cytoskeleton organization, mitotic spindle formation, and ciliary function. Mutations in TUBB and related tubulin genes cause tubulinopathiesβ€”a group of neurodevelopmental disorders characterized by complex brain malformations including lissencephaly, microcephaly, abnormal corticogenesis, and impaired axonal migration 1. Although fewer than ten MCD-associated mutations are known in TUBB compared to other tubulin genes, TUBB mutations consistently produce specific cortical dysgenesis patterns by altering microtubule dynamics and interactions with motor proteins 1. Beyond neurodevelopment, TUBB is significantly upregulated in ulcerative colitis macrophages and serves as a key regulator of tryptophan metabolism-related inflammation 2, while elevated TUBB expression correlates with hepatocellular carcinoma progression in NAFLD and represents a promising therapeutic target 3. These findings establish TUBB as both a fundamental cytoskeletal component and a disease-relevant biomarker across multiple pathological contexts.

Sources cited
1
TUBB function in microtubule assembly, tubulinopathy pathogenesis, and cortical dysgenesis mechanisms
PMID: 35915025
2
TUBB upregulation in ulcerative colitis macrophages and role in tryptophan metabolism-related inflammation
PMID: 39707393
3
TUBB as diagnostic and prognostic biomarker in NAFLD-related hepatocellular carcinoma with therapeutic potential
PMID: 41271048
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜2
Cortical dysplasia, complex, with other brain malformations 6UniProt
Skin creases, congenital symmetric circumferential, 1UniProt
Pathogenic Variants36
NM_178014.4(TUBB):c.155A>G (p.Asn52Ser)Pathogenic
not provided|Complex cortical dysplasia with other brain malformations 6
β˜…β˜…β˜†β˜†2025β†’ Residue 52
NM_178014.4(TUBB):c.1057G>A (p.Val353Ile)Pathogenic
Complex cortical dysplasia with other brain malformations 6|TUBB-related disorder|Multiple benign circumferential skin creases on limbs 1;Complex cortical dysplasia with other brain malformations 6|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_178014.4(TUBB):c.979G>A (p.Asp327Asn)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 327
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)Pathogenic
Complex cortical dysplasia with other brain malformations 6|Inborn genetic diseases|Multiple benign circumferential skin creases on limbs 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 401
NM_178014.4(TUBB):c.895A>G (p.Met299Val)Pathogenic
Complex cortical dysplasia with other brain malformations 6|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 299
NM_178014.4(TUBB):c.662C>T (p.Thr221Ile)Pathogenic
Complex cortical dysplasia with other brain malformations 6|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 221
NM_178014.4(TUBB):c.917G>C (p.Arg306Pro)Likely pathogenic
Complex cortical dysplasia with other brain malformations 6|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 306
NM_178014.4(TUBB):c.626A>G (p.Asp209Gly)Pathogenic
Complex cortical dysplasia with other brain malformations 6
β˜…β˜†β˜†β˜†2025β†’ Residue 209
NM_178014.4(TUBB):c.968T>C (p.Met323Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 323
NM_178014.4(TUBB):c.869C>T (p.Thr290Ile)Pathogenic
Complex cortical dysplasia with other brain malformations 6|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 290
NM_178014.4(TUBB):c.752G>T (p.Arg251Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 251
NM_178014.4(TUBB):c.680A>G (p.His227Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 227
NM_178014.4(TUBB):c.245G>T (p.Gly82Val)Likely pathogenic
Complex cortical dysplasia with other brain malformations 6
β˜…β˜†β˜†β˜†2024β†’ Residue 82
NM_178014.4(TUBB):c.202C>A (p.Leu68Ile)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 68
NM_178014.4(TUBB):c.716G>C (p.Cys239Ser)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 239
NM_178014.4(TUBB):c.859C>T (p.Pro287Ser)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 287
NM_178014.4(TUBB):c.670G>C (p.Asp224His)Likely pathogenic
Complex cortical dysplasia with other brain malformations 6
β˜…β˜†β˜†β˜†2023β†’ Residue 224
NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)Likely pathogenic
Complex cortical dysplasia with other brain malformations 6
β˜…β˜†β˜†β˜†2022β†’ Residue 87
NM_178014.4(TUBB):c.45G>C (p.Gln15His)Likely pathogenic
Multiple benign circumferential skin creases on limbs 1
β˜…β˜†β˜†β˜†2022β†’ Residue 15
NM_178014.4(TUBB):c.670G>T (p.Asp224Tyr)Likely pathogenic
Complex cortical dysplasia with other brain malformations 6
β˜…β˜†β˜†β˜†2021β†’ Residue 224
View on ClinVar β†—
Related Genes
MTORProtein interaction100%CAMSAP1Protein interaction100%RPL8Protein interaction100%RPL23AProtein interaction100%RPL37AProtein interaction100%UBA52Protein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
TUBBMTORCAMSAP1RPL8RPL23ARPL37AUBA52
PROTEIN STRUCTURE
Preparing viewer…
PDB3QNZ Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.18Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.06 [0.02–0.18]
RankingsWhere TUBB stands among ~20K protein-coding genes
  • #509of 20,598
    Most Researched516 Β· top 5%
  • #1,635of 5,498
    Most Pathogenic Variants36
  • #334of 17,882
    Most Constrained (LOEUF)0.18 Β· top 5%
Genes detectedTUBB
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Integrating single-cell RNA-Seq and machine learning to dissect tryptophan metabolism in ulcerative colitis.
PMID: 39707393
J Transl Med Β· 2024
1.00
2
Tubulin mutations in human neurodevelopmental disorders.
PMID: 35915025
Semin Cell Dev Biol Β· 2023
0.90
3
PHB2 (prohibitin 2) promotes PINK1-PRKN/Parkin-dependent mitophagy by the PARL-PGAM5-PINK1 axis.
PMID: 31177901
Autophagy Β· 2020
0.80
4
m
PMID: 34657574
Autophagy Β· 2022
0.70
5
Integrating Single-cell RNA-seq to construct a Neutrophil prognostic model for predicting immune responses in non-small cell lung cancer.
PMID: 36401283
J Transl Med Β· 2022
0.60