TUBA3D
Tubulin Alpha 3D
Gene Information Card
| Symbol | TUBA3D |
|---|---|
| Full Name | tubulin alpha 3d |
| Gene Type | protein-coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 113457 ncbi.nlm.nih.gov/gene/113457 |
| Ensembl ID | ENSG00000188229 |
| UniProt ID | Q6PEY2 |
| OMIM ID | 616785 |
| HGNC ID | 20773 |
| Aliases | TUBA2, bA408O5.1 |
Description
TUBA3D encodes a member of the alpha tubulin family, which are major components of microtubules. Microtubules are essential for cell structure, division, and intracellular transport. This gene is specifically expressed in testis and is involved in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Defective microtubule assembly in sperm flagella | ClinVar: pathogenic variants associated with male infertility |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain | 2.1 | Low |
| Heart | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line | 120.5 | High expression |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5C>T (p.Ala2Val) | Missense | Rare | Potential loss of function |
| c.127G>A (p.Glu43Lys) | Missense | Rare | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants may disrupt microtubule polymerization.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule cytoskeleton organization | • GTP binding |
| • structural constituent of cytoskeleton |
Pathways
• Microtubule-dependent transport
• Cell cycle
Protein Summary
TUBA3D is a 451-amino acid alpha tubulin protein that forms heterodimers with beta tubulin to build microtubules. It is highly expressed in testis and critical for sperm flagella structure and motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA3D Knockout HEK293 Cell Line | EDJ-KQ7422 | Human | 113457 | Details Get a Quote |
| TUBA3D Knockout HeLa Cell Line | EDJ-KQ57908 | Human | 113457 | Details Get a Quote |
| TUBA3D Knockout A-549 Cell Line | EDJ-KQ66399 | Human | 113457 | Details Get a Quote |
| TUBA3D Knockout HCT 116 Cell Line | EDJ-KQ74825 | Human | 113457 | Details Get a Quote |
