TUBB2A Gene Summary [Human]
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Details
| Type | Processed Transcript |
| Official Symbol | TUBB2A |
| Official Name | tubulin beta 2A class IIa [Source:HGNC Symbol;Acc:HGNC:12412] |
| Ensembl ID | ENSG00000137267 |
| Bio databases IDs | |
| Aliases | tubulin beta 2A class IIa, class IIa beta-tubulin |
| Synonyms | Beta tubulin, CDCBM5, M(beta)2, M(β)2, TUBB, TUBB2, TUBULIN beta 2A, tubulin beta 2A class IIa, tubulin, beta 2A class IIA, TUBULIN β 2A, tubulin β 2A class IIa, tubulin, β 2A class IIA, β tubulin, β-tubulin class ii |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TUBB2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tubulin protein family of FtsZ and CetZ-like
- Tubulin C-terminal domain
- Tubulin/FtsZ family, GTPase domain
- protein binding
- Tubulin/FtsZ family, C-terminal domain
Pathways
Biological processes and signaling networks where the TUBB2A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- precursor B-cell acute lymphoblastic leukemia
- venous thromboembolism
- stroke
- atrial fibrillation
- COVID-19
- bleeding
- disorder of coronary artery
- ST-elevation myocardial infarction
- knee osteoarthritis
- ischemic stroke
role in cell
- proliferation
- migration by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- microtubule cytoskeleton
- spindle apparatus
- Nucleus
- spindle pole bodies
- centriole
- microtubules
- axonemes
- midbody
- cytoplasmic bridges
- cytosol
- mitochondrial membrane
- nuclear scaffolds
- mitotic spindle
- phagosomes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBB2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebral cortex development
- microtubule cytoskeleton organization
- mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- nucleus
- intercellular bridge
- microtubule cytoskeleton
- extracellular vesicular exosome
- mitotic spindle
- cytoplasm
- microtubule
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- GTPase activity
- structural constituent of cytoskeleton