TUBB4B Gene - Tubulin Beta 4B Class IVb
Essential component of microtubules, associated with dystonia and hearing loss
Gene Information Card
| Symbol | TUBB4B |
|---|---|
| Full Name | Tubulin Beta 4B Class IVb |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 10383 ncbi.nlm.nih.gov/gene/10383 |
| Ensembl ID | ENSG00000188229 |
| UniProt ID | P68371 |
| OMIM ID | 602662 |
| HGNC ID | 20771 |
| Aliases | TUBB4, TUBB4B, beta-4 tubulin |
Description
TUBB4B encodes a member of the beta-tubulin protein family, which is a major component of microtubules. Microtubules are essential for cell structure, intracellular transport, and cell division. Mutations in TUBB4B are associated with autosomal dominant dystonia, hearing loss, and Leber congenital amaurosis with early-onset dystonia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dystonia 4 (torsion dystonia 4) | Missense mutations disrupt microtubule dynamics in neurons | OMIM #602662 |
| Leber congenital amaurosis with early-onset dystonia | Dominant-negative effect on microtubule assembly in photoreceptors and neurons | ClinVar |
| Autosomal dominant nonsyndromic hearing loss | Altered microtubule function in cochlear hair cells | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Testis | 18.2 | Medium |
| Retina | 15.8 | Medium |
| Heart | 10.1 | Medium |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | High expression |
| HeLa (cervical carcinoma) | 22.1 | Medium expression |
| HEK293 (embryonic kidney) | 18.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4C>T (p.Arg2Trp) | Missense | Rare | Dominant-negative; associated with dystonia |
| c.5G>A (p.Arg2Gln) | Missense | Rare | Dominant-negative; associated with Leber congenital amaurosis |
| c.29G>A (p.Gly10Asp) | Missense | Rare | Gain-of-function; associated with hearing loss |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; most pathogenic variants are dominant-negative or gain-of-function.
Gain of Function (GOF)
p.Gly10Asp associated with hearing loss; alters microtubule stability.
Dominant Negative (DN)
p.Arg2Trp and p.Arg2Gln disrupt microtubule polymerization in neurons and photoreceptors.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of cytoskeleton (GO:0005200) | • microtubule-based process (GO:0007017) |
| • microtubule (GO:0005874) | • microtubule cytoskeleton organization (GO:0000226) |
Pathways
• Microtubule-dependent transport (Reactome R-HSA-983231)
• Formation of tubulin folding intermediates (Reactome R-HSA-389957)
Protein Summary
TUBB4B is a 445-amino acid beta-tubulin protein that heterodimerizes with alpha-tubulin to form microtubules. It is highly expressed in brain and retina, where it supports neuronal architecture and intracellular transport. Mutations cause dominant-negative or gain-of-function effects leading to neurodegenerative and sensory disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBB4B Knockout HEK293 Cell Line | EDJ-KQ2751 | Human | 10383 | Details Get a Quote |
| TUBB4B Knockout A-549 Cell Line | EDJ-KQ23641 | Human | 10383 | Details Get a Quote |
| TUBB4B Knockout HCT 116 Cell Line | EDJ-KQ23642 | Human | 10383 | Details Get a Quote |
| TUBB4B Knockout HeLa Cell Line | EDJ-KQ23643 | Human | 10383 | Details Get a Quote |
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