TUBB4B Gene Summary [Human]
Enables double-stranded RNA binding activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule. Implicated in Leber congenital amaurosis with early-onset deafness. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TUBB4B |
| Official Name | tubulin beta 4B class IVb [Source:HGNC Symbol;Acc:HGNC:20771] |
| Ensembl ID | ENSG00000188229 |
| Bio databases IDs | |
| Aliases | tubulin beta 4B class IVb, class IVb beta-tubulin |
| Synonyms | 4930542G03RIK, Beta2, Beta-tubulin class IVb, Class IVb Beta-Tubulin, Class IVb β-Tubulin, LCAEOD, TUBB2, TUBB2C, Tubb2c1, tubulin beta 4B class IVb, tubulin, beta 4B class IVB, tubulin β 4B class IVb, tubulin, β 4B class IVB, β-tubulin class IVb |
| 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 TUBB4B 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
- MHC class I protein binding
- Tubulin/FtsZ family, GTPase domain
- double-stranded RNA binding
- protein binding
- Tubulin/FtsZ family, C-terminal domain
Pathways
Biological processes and signaling networks where the TUBB4B 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
- liver cancer
- cancer
- epithelial cancer
- HIV infection
- human immunodeficiency virus I infection
- plasma cell myeloma
- infection
- cardiovascular disorder
- metastatic endometrial carcinoma
- malignant neoplasm of endometrium
role in cell
- growth
- motility
- cohesion in
- cohesion
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
- nuclear fraction
- microtubule cytoskeleton
- azurophil granule lumen
- cytoskeleton
- Extracellular Space
- Nucleus
- microtubules
- axonemes
- cytoplasmic bridges
- cytosol
- sperm tail
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBB4B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- natural killer cell mediated cytotoxicity
- microtubule cytoskeleton organization
- mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- extracellular region
- microtubule
- nucleus
- intercellular bridge
- axonemal microtubule
- cytoskeleton
- extracellular vesicular exosome
- mitotic spindle
- cytoplasm
- cytosol
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- double-stranded RNA binding
- GTPase activity
- structural constituent of cytoskeleton
- MHC class I protein binding
- unfolded protein binding