TUB Gene
TUB (TUBB8) - Tubulin Beta 8 Class V
Gene Information Card
| Symbol | TUB |
|---|---|
| Full Name | tubulin beta 8 class V |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 347688 ncbi.nlm.nih.gov/gene/347688 |
| Ensembl ID | ENSG00000185220 |
| UniProt ID | Q3ZCM7 |
| OMIM ID | 616768 |
| HGNC ID | 20753 |
| Aliases | TUBB8, MCPH6, bA631M21.1 |
Description
TUB (TUBB8) encodes a beta-tubulin protein, a major component of microtubules. This gene is specifically expressed in oocytes and is essential for meiotic spindle formation and oocyte maturation. Mutations in TUBB8 are associated with female infertility due to oocyte maturation arrest and early embryonic developmental defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to oocyte maturation arrest | Disrupted microtubule dynamics impair meiotic spindle assembly, leading to oocyte arrest at metaphase I or II | ClinVar, OMIM |
| Microcephaly, primary, 6 (MCPH6) | Altered microtubule function affects neural progenitor cell division, reducing brain size | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected (nTPM based on GTEx; TUBB8 is oocyte-specific, not in bulk ovary) - see cell expression |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte (human) | High (RNA-seq) | Specifically expressed in oocytes; not in somatic cell lines |
| HEK293 | 0.0 | No expression |
| K562 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.416G>A (p.Arg139His) | Missense | Rare | Dominant negative; disrupts microtubule polymerization, causes oocyte arrest |
| c.10G>A (p.Glu4Lys) | Missense | Rare | Impaired spindle assembly, associated with infertility |
| c.104C>T (p.Thr35Met) | Missense | Rare | Reduced microtubule stability, meiotic arrest |
Mutation functional classification
Loss of Function (LOF)
Not reported; complete loss likely lethal.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Yes; missense mutations (e.g., p.Arg139His) exert dominant-negative effects on microtubule polymerization, causing oocyte maturation arrest.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule cytoskeleton organization (Reactome: R-HSA-190236)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
TUBB8 is a beta-tubulin isoform (451 amino acids) that polymerizes with alpha-tubulin to form microtubules. It is specifically expressed in oocytes and is critical for meiotic spindle assembly. Mutations in TUBB8 cause dominant-negative disruption of microtubule dynamics, leading to female infertility due to oocyte maturation arrest. The protein is not expressed in somatic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA8 Knockout HEK293 Cell Line | EDJ-KQ1975 | Human | 51807 | Details Get a Quote |
| TUBB4B Knockout HEK293 Cell Line | EDJ-KQ2751 | Human | 10383 | Details Get a Quote |
| TUBB2A Knockout HEK293 Cell Line | EDJ-KQ3064 | Human | 7280 | Details Get a Quote |
| TUB Knockout HEK293 Cell Line | EDJ-KQ5977 | Human | 7275 | Details Get a Quote |
| TUBA3C Knockout HEK293 Cell Line | EDJ-KQ5980 | Human | 7278 | Details Get a Quote |
| TUBA1A Knockout HEK293 Cell Line | EDJ-KQ6133 | Human | 7846 | Details Get a Quote |
| TUBB4A Knockout HEK293 Cell Line | EDJ-KQ7027 | Human | 10382 | Details Get a Quote |
| TUBA3E Knockout HEK293 Cell Line | EDJ-KQ7390 | Human | 112714 | Details Get a Quote |
| TUBA3D Knockout HEK293 Cell Line | EDJ-KQ7422 | Human | 113457 | Details Get a Quote |
| TUBG2 Knockout HEK293 Cell Line | EDJ-KQ8708 | Human | 27175 | Details Get a Quote |
| TUBA4B Knockout HEK293 Cell Line | EDJ-KQ9443 | Human | 80086 | Details Get a Quote |
| TUBB1 Knockout HEK293 Cell Line | EDJ-KQ9601 | Human | 81027 | Details Get a Quote |
| TUBB6 Knockout HEK293 Cell Line | EDJ-KQ10131 | Human | 84617 | Details Get a Quote |
| TUBA1C Knockout HEK293 Cell Line | EDJ-KQ10198 | Human | 84790 | Details Get a Quote |
| TUBAL3 Knockout HEK293 Cell Line | EDJ-KQ15984 | Human | 79861 | Details Get a Quote |
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