TUBA4B Gene: Tubulin Alpha 4b
Genetic and protein information for TUBA4B, a tubulin gene with limited functional characterization.
Gene Information Card
| Symbol | TUBA4B |
|---|---|
| Full Name | tubulin alpha 4b |
| Gene Type | protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 7278 ncbi.nlm.nih.gov/gene/7278 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | P68366 |
| OMIM ID | 602529 |
| HGNC ID | 12409 |
| Aliases | H2-ALPHA, TUB4B |
Description
TUBA4B encodes a member of the alpha tubulin family. Alpha tubulins are structural components of microtubules, which are essential for cell division, intracellular transport, and maintenance of cell shape. TUBA4B is a protein-coding gene located on chromosome 2q35. Its specific function is less characterized compared to other tubulin genes, but it is presumed to contribute to microtubule dynamics. Expression data indicate low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease association found in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 9.8 | Low |
| Brain | 5.2 | Low |
| Lung | 4.1 | Low |
| Liver | 3.0 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 12.5 | Moderate expression |
| HeLa | 8.3 | Low expression |
| A549 | 6.1 | Low expression |
| MCF7 | 4.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | Not applicable | Not reported | No pathogenic or likely pathogenic variants curated in ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in TUBA4B.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • structural constituent of cytoskeleton |
| • microtubule | • cytoskeleton |
| • microtubule-based process |
Pathways
• Microtubule cytoskeleton organization
• Cell cycle (mitotic)
Protein Summary
TUBA4B encodes a 50 kDa protein of 447 amino acids. It is a member of the alpha tubulin family, which polymerizes to form microtubules. The protein contains a GTP-binding domain and is involved in microtubule assembly. Its expression is relatively low across tissues, suggesting a specialized or redundant role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA4B Knockout HEK293 Cell Line | EDJ-KQ9443 | Human | 80086 | Details Get a Quote |
| TUBA4B Knockout A-549 Cell Line | EDJ-KQ36133 | Human | 80086 | Details Get a Quote |
