TUBB2A Gene - Tubulin Beta 2A Class IIa
Comprehensive biomedical resource for TUBB2A: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | TUBB2A |
|---|---|
| Full Name | Tubulin Beta 2A Class IIa |
| Gene Type | Protein coding |
| Chromosomal Location | 6p25.2 |
| NCBI Gene ID | 7280 ncbi.nlm.nih.gov/gene/7280 |
| Ensembl ID | ENSG00000137267 |
| UniProt ID | Q13885 |
| OMIM ID | 615101 |
| HGNC ID | 12412 |
| Aliases | TUBB2, CDCBM5, bA506K6.1 |
Description
TUBB2A encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize to form microtubules, which are key components of the cytoskeleton. This gene is expressed predominantly in the brain and is involved in neuronal migration and axon guidance. Mutations in TUBB2A are associated with complex cortical malformations and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) | Missense mutations disrupt microtubule dynamics and neuronal migration | OMIM #615101; multiple case reports |
| Microcephaly | Impaired microtubule function affecting neural progenitor cell division | ClinVar; literature review |
| Epilepsy | Cortical malformation leading to abnormal neuronal excitability | ClinVar; case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 6.2 | Medium |
| Thyroid | 4.1 | Low |
| Heart | 2.8 | Low |
| Liver | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 12.8 | High expression |
| HeLa (cervical carcinoma) | 3.1 | Low expression |
| HEK 293 (embryonic kidney) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.743G>A (p.Arg248Gln) | Missense | Rare | Dominant negative; disrupts microtubule polymerization |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Loss of function; impaired heterodimer formation |
| c.5C>T (p.Ala2Val) | Missense | Rare | Gain of function; altered microtubule stability |
Mutation functional classification
Loss of Function (LOF)
p.Arg414Cys reduces tubulin heterodimer stability and microtubule assembly.
Gain of Function (GOF)
p.Ala2Val increases microtubule stability, leading to abnormal neuronal migration.
Dominant Negative (DN)
p.Arg248Gln interferes with wild-type tubulin incorporation into microtubules.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • structural constituent of cytoskeleton | • microtubule polymerization |
| • microtubule-based movement | • cell division |
| • neuron projection development |
Pathways
• Microtubule cytoskeleton organization
• Cell cycle (mitosis)
• Axon guidance
• Neuronal migration
Protein Summary
TUBB2A encodes a 445-amino acid beta-tubulin protein (UniProt Q13885) that forms heterodimers with alpha-tubulin to build microtubules. It is highly expressed in the brain and essential for neuronal migration, axon guidance, and cell division. Mutations cause dominant-negative or loss-of-function effects leading to cortical malformations and epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBB2A Knockout HEK293 Cell Line | EDJ-KQ3064 | Human | 7280 | Details Get a Quote |
| TUBB2A Knockout A-549 Cell Line | EDJ-KQ22952 | Human | 7280 | Details Get a Quote |
| TUBB2A Knockout HCT 116 Cell Line | EDJ-KQ24330 | Human | 7280 | Details Get a Quote |
| TUBB2A Knockout HeLa Cell Line | EDJ-KQ24331 | Human | 7280 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
