TUBA3E
Tubulin Alpha 3e
Gene Information Card
| Symbol | TUBA3E |
|---|---|
| Full Name | Tubulin Alpha 3e |
| Gene Type | protein-coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 112714 ncbi.nlm.nih.gov/gene/112714 |
| Ensembl ID | ENSG00000123416 |
| UniProt ID | Q6PEY2 |
| OMIM ID | 191170 |
| HGNC ID | 20766 |
| Aliases | TUBA3, TUBA3D, MGC8688 |
Description
TUBA3E encodes a member of the alpha tubulin family, which are structural components of microtubules. Microtubules are essential for cell division, intracellular transport, and maintenance of cell shape. This gene is specifically expressed in testis and is involved in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Disrupted microtubule function in sperm flagella | ClinVar |
| Male infertility | Defects in sperm motility due to tubulin abnormalities | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 0.8 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line | 15.2 | Moderate expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5G>A (p.Arg2His) | Missense | <0.01% | Unknown functional impact |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • structural constituent of cytoskeleton |
| • microtubule polymerization |
Pathways
• Microtubule cytoskeleton organization
• Cell cycle
Protein Summary
Tubulin alpha-3e is a 450-amino-acid protein that forms heterodimers with beta tubulin to assemble microtubules. It is predominantly expressed in testis and plays a role in sperm flagellum structure and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA3E Knockout HEK293 Cell Line | EDJ-KQ7390 | Human | 112714 | Details Get a Quote |
| TUBA3E Knockout HeLa Cell Line | EDJ-KQ57895 | Human | 112714 | Details Get a Quote |
| TUBA3E Knockout A-549 Cell Line | EDJ-KQ66390 | Human | 112714 | Details Get a Quote |
| TUBA3E Knockout HCT 116 Cell Line | EDJ-KQ74815 | Human | 112714 | Details Get a Quote |
