TUBB3 (Tubulin Beta 3 Class III)
A neuron-specific beta-tubulin isotype critical for microtubule dynamics in neuronal development and implicated in a spectrum of neurodevelopmental disorders.
Gene Information Card
| Symbol | TUBB3 |
|---|---|
| Full Name | Tubulin Beta 3 Class III |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 10381 ncbi.nlm.nih.gov/gene/10381 |
| Ensembl ID | ENSG00000198211 |
| UniProt ID | Q13509 |
| OMIM ID | 602661 |
| HGNC ID | 20772 |
| Aliases | TUBB4, beta-4, tubulin beta-3 chain |
Description
TUBB3 encodes the neuron-specific beta-tubulin III protein, a core component of microtubules essential for axonal guidance, neuronal migration, and intracellular transport. Mutations in TUBB3 disrupt microtubule dynamics and cause a spectrum of neurodevelopmental disorders, including congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and cortical dysplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital fibrosis of the extraocular muscles type 3 (CFEOM3) | Dominant-negative mutations impair microtubule polymerization and axonal guidance of oculomotor nerves | OMIM #600638 |
| Cortical dysplasia, complex, with other brain malformations | Altered microtubule stability disrupts neuronal migration and cortical lamination | OMIM #614039 |
| TUBB3-related polymicrogyria | Mutations affecting GTP-binding domain lead to abnormal cortical folding | ClinVar |
| Peripheral neuropathy (axonal) | Gain-of-function mutations cause hyperstable microtubules impairing axonal transport | OMIM #617290 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.5 | High |
| Testis | 2.1 | Low |
| Heart | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.3 | Neuronal lineage, high expression |
| U-87 MG (glioblastoma) | 35.1 | Glial tumor, moderate expression |
| HeLa (cervical carcinoma) | 1.2 | Very low expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1228G>A (p.Glu410Lys) | Missense | Rare | Dominant-negative; disrupts microtubule polymerization; CFEOM3 |
| c.124G>A (p.Asp42Asn) | Missense | Rare | Gain-of-function; hyperstable microtubules; peripheral neuropathy |
| c.785C>T (p.Thr262Met) | Missense | Rare | Loss-of-function; impaired GTP binding; cortical dysplasia |
| c.5C>T (p.Ala2Val) | Missense | Rare | Dominant-negative; altered folding; polymicrogyria |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Thr262Met impair GTP binding and microtubule nucleation, reducing microtubule stability and dynamics.
Gain of Function (GOF)
Mutations such as p.Asp42Asn increase microtubule stability, leading to impaired axonal transport and peripheral neuropathy.
Dominant Negative (DN)
Mutations such as p.Glu410Lys disrupt microtubule polymerization by incorporating defective tubulin into growing microtubules, causing CFEOM3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule polymerization (Reactome: R-HSA-190840)
• Axon guidance (Reactome: R-HSA-422475)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
Tubulin beta-3 chain (TUBB3) is a 450-amino-acid protein that forms heterodimers with alpha-tubulin to assemble into microtubules. It is predominantly expressed in neurons and is essential for axonal growth, neuronal migration, and intracellular transport. The protein contains a GTP-binding domain critical for polymerization. Mutations in TUBB3 lead to altered microtubule dynamics, resulting in a range of neurodevelopmental and neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBB3 Knockout HEK293 Cell Line | EDJ-KQ50964 | Human | 10381 | Details Get a Quote |
| TUBB3 Knockout HeLa Cell Line | EDJ-KQ55397 | Human | 10381 | Details Get a Quote |
| TUBB3 Knockout A-549 Cell Line | EDJ-KQ63877 | Human | 10381 | Details Get a Quote |
| TUBB3 Knockout HCT 116 Cell Line | EDJ-KQ72334 | Human | 10381 | Details Get a Quote |
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