TUBB2B Gene Summary [Human]
The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]
Details
| Type | Retained Intron |
| Official Symbol | TUBB2B |
| Official Name | tubulin beta 2B class IIb [Source:HGNC Symbol;Acc:HGNC:30829] |
| Ensembl ID | ENSG00000137285 |
| Bio databases IDs | |
| Aliases | tubulin beta 2B class IIb, class IIb beta-tubulin |
| Synonyms | bA506K6.1, Beta1 Tubulin, Beta-tubulin T beta15, CDCBM7, MGC8685, PMGYSA, RGD1309427, Tubb2, tubulin beta 2B class IIb, tubulin, beta 2B class IIb, tubulin β 2B class IIb, tubulin, β 2B class IIb, β-tubulin T beta15, β tubulin T β 15 |
| 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 TUBB2B 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
- protein heterodimerization
Pathways
Biological processes and signaling networks where the TUBB2B 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
- Hutchinson-Gilford progeria syndrome
- hereditary disorder
- tubulinopathy
- symmetric or asymmetric polymicrogyria
- aortic valve calcification
- Parkinson disease
- lissencephaly
- small cell lung cancer
- complex cortical dysplasia with other brain malformations
- congenital bilateral perisylvian polymicrogyria
role in cell
- migration
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microtubule cytoskeleton
- microtubules
- cytoplasmic bridges
- synapse
- mitotic spindle
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBB2B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron migration
- regulation of synaptic transmission
- cerebral cortex development
- microtubule cytoskeleton organization
- mitotic cell cycle
- microtubule-based process
Cellular Component
Where in the cell the gene product is active
- nucleus
- microtubule cytoskeleton
- intercellular bridge
- mitotic spindle
- cytoplasm
- microtubule
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- protein heterodimerization activity
- GTPase activity
- structural constituent of cytoskeleton