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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBCB
tubulin folding cofactor B
Chromosome 19 · 19q13.12
NCBI Gene: 1155Ensembl: ENSG00000105254.13HGNC: HGNC:1989UniProt: Q99426
82PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolcytoplasmnucleusneurodegenerative diseaseatrial fibrillationlysosomal storage diseaseacute myeloid leukemia
✦AI Summary

TBCB (tubulin folding cofactor B) is a cytoplasmic protein that plays a critical role in tubulin biogenesis and microtubule dynamics. Structurally, TBCB contains a CAP-Gly domain and a characteristic DEI/M-COO(-) motif that mediates its autoinhibition and enables heterodimerization with TBCE 1. Primary Function: TBCB binds to α-tubulin folding intermediates after chaperonin interaction and regulates tubulin heterodimer dissociation and recycling 2. The protein localizes to spindle and midzone microtubules during mitosis and mediates microtubule dynamics through EB1 interactions 1. Mechanism: TBCB functions within a multiprotein complex with TBCE, TBCD, TBCA, and Arl2 to facilitate proper tubulin folding, dimerization, and subsequent dissociation when needed 2. When overexpressed or derepressed, TBCB promotes microtubule depolymerization 1. Disease Relevance: Heterozygous TBCB mutations cause a novel form of hereditary spastic paraparesis associated with global developmental delay and autism spectrum disorder, with reduced TBCB protein levels impairing axonal function 3. TBCB is also pathologically targeted by Salmonella effectors during bacterial infection 4 and can be stabilized by HILI in cancer cells, promoting microtubule destabilization and tumorigenesis 5. Clinical Significance: TBCB dysfunction represents an emerging neurodevelopmental disorder mechanism with high carrier frequency in specific populations, highlighting its essential role in CNS development and axonal integrity.

Sources cited
1
TBCB mutations cause hereditary spastic paraparesis with global developmental delay and autism spectrum disorder; TBCB regulates αβ-heterodimer dynamics and neuronal axonal growth
PMID: 40856104
2
TBCB contains DEI/M-COO(-) motif required for TBCE heterodimerization and tubulin dimer dissociation; localizes to spindle and midzone microtubules; interacts with EB1 at microtubule tips
PMID: 22940919
3
TBCB and TBCE form binary complex that enhances tubulin heterodimer dissociation; TBCB overexpression depolymerizes microtubules; part of multiprotein tubulin biogenesis complex
PMID: 17184771
4
Salmonella effector SseK1 targets TBCB and modifies it via glycosylation, affecting microtubule cytoskeleton stabilization
PMID: 32366039
5
HILI suppresses Gigaxonin-mediated TBCB degradation and reduces TBCB phosphorylation, promoting microtubule destabilization and cell proliferation in cancer
PMID: 28393858
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
atrial fibrillationOpen Targets
0.18Weak
lysosomal storage diseaseOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
membranous glomerulonephritisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.02Suggestive
diabetic polyneuropathyOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.00Suggestive
cerebral malformationOpen Targets
0.00Suggestive
Prader-Willi syndromeOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GANProtein interaction88%TUBA1AProtein interaction82%TUBA4AProtein interaction81%TUBA1BProtein interaction79%TUBB6Protein interaction77%TUBB4BProtein interaction76%
Tissue Expression6 tissues
Brain
100%
Ovary
42%
Bone Marrow
37%
Lung
36%
Heart
32%
Liver
27%
Gene Interaction Network
Click a node to explore
TBCBGANTUBA1ATUBA4ATUBA1BTUBB6TUBB4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99426
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.50–1.07]
RankingsWhere TBCB stands among ~20K protein-coding genes
  • #5,828of 20,598
    Most Researched82
  • #10,860of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedTBCB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.
PMID: 40856104
Genet Med · 2025
1.00
2
The Application of Transbronchial Cryo-biopsy in the Diagnosis of Pulmonary Alveolar Proteinosis.
PMID: 40396301
J Bronchology Interv Pulmonol · 2025
0.90
3
Robotic-Assisted Bronchoscopy-Guided Transbronchial Cryobiopsy Versus Transbronchial Needle Aspiration in Peripheral Pulmonary Lesions.
PMID: 40392189
J Bronchology Interv Pulmonol · 2025
0.80
4
Autoinhibition of TBCB regulates EB1-mediated microtubule dynamics.
PMID: 22940919
Cell Mol Life Sci · 2013
0.70
5
Tubulin Folding Cofactor TBCB is a Target of the
PMID: 32366039
Int J Mol Sci · 2020
0.60