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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TUBA8
tubulin alpha 8
Chromosome 22 · 22q11.21
NCBI Gene: 51807Ensembl: ENSG00000183785.17HGNC: HGNC:12410UniProt: Q9NY65
88PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
microtubule cytoskeletonprotein bindingmicrotubulemitotic cell cyclemacrothrombocytopenia, isolated, 2, autosomal dominantpolymicrogyria with optic nerve hypoplasiaatrial fibrillationviral disease
✦AI Summary

TUBA8 (tubulin alpha 8) is a tissue-specific alpha-tubulin isoform that functions as a major structural constituent of microtubules, forming GTP-binding heterodimers with beta-tubulin 1. As the most divergent member of the mammalian alpha-tubulin family, TUBA8 is preferentially expressed in heart, skeletal muscle, and testis, with notably high expression in hepatic stellate cells and hepatocellular carcinoma tissues 12. TUBA8 expression is regulated at the post-translational level through interaction with alpha-syntrophin in hepatocytes, independent of mRNA regulation 3. Mechanistically, TUBA8 modulates cell-type-specific responses including growth inhibition in hepatoma cells and enhanced migration in transformed hepatocytes 4. In spermatogenesis, TUBA8 localizes specifically to developing spermatids with acrosomal distribution, suggesting roles in spermiogenesis 5. Disease associations include polymicrogyria, a cortical malformation disorder, though recent evidence suggests SNAP29 mutations may account for neurodevelopmental phenotypes 65. TUBA8 dysregulation associates with ankylosing spondylitis-related femoral head necrosis and is implicated in schizophrenia through ceRNA regulatory networks 78. TUBA8 is also associated with autosomal dominant isolated macrothrombocytopenia, though mechanistic details require further investigation.

Sources cited
1
TUBA8 is a tissue-specific alpha-tubulin isoform preferentially expressed in heart, skeletal muscle, and testis; most divergent member of mammalian alpha-tubulin family
PMID: 10772959
2
TUBA8 protein expression is inversely regulated by alpha-syntrophin in hepatocytes at the post-translational level
PMID: 30033487
3
TUBA8 overexpression inhibits cell growth/proliferation in Huh7 cells and increases cell migration in HepG2 cells
PMID: 21872825
4
TUBA8 is highly expressed in hepatic stellate cells and significantly upregulated in human hepatocellular carcinoma tissues
PMID: 28063004
5
TUBA8 localizes to spermatids during spermatogenesis with acrosomal distribution; brain localization restricted to cerebellar Purkinje cells
PMID: 28388629
6
TUBA8 mutations are associated with polymicrogyria, a cortical malformation disorder
PMID: 36211152
7
TUBA8 dysregulation correlates with immune cell abnormalities in ankylosing spondylitis with femoral head necrosis
PMID: 35126370
8
TUBA8 is part of ceRNA regulatory networks associated with schizophrenia phenotypes in iPSC-derived models
PMID: 40311511
Disease Associationsⓘ21
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.58Moderate
polymicrogyria with optic nerve hypoplasiaOpen Targets
0.58Moderate
atrial fibrillationOpen Targets
0.51Moderate
viral diseaseOpen Targets
0.46Moderate
atrial flutterOpen Targets
0.44Moderate
cardiac arrhythmiaOpen Targets
0.41Moderate
autosomal dominant macrothrombocytopeniaOpen Targets
0.37Weak
cardiomyopathyOpen Targets
0.34Weak
chronic obstructive pulmonary diseaseOpen Targets
0.32Weak
gram-negative bacterial infectionsOpen Targets
0.31Weak
SeizureOpen Targets
0.18Weak
Duane anomalyOpen Targets
0.12Weak
Duane retraction syndromeOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
Griscelli syndrome type 3Open Targets
0.04Suggestive
Macrothrombocytopenia, isolated, 2, autosomal dominantUniProt
Pathogenic Variants1
NM_018943.3(TUBA8):c.59G>A (p.Cys20Tyr)Pathogenic
Macrothrombocytopenia, isolated, 2, autosomal dominant
☆☆☆☆2022→ Residue 20
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Related Genes
TJP1Protein interaction100%DYNC1I2Protein interaction97%TUBB4BProtein interaction97%DYNC1H1Protein interaction96%DYNC1I1Protein interaction96%GJA1Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Brain
54%
Liver
17%
Ovary
9%
Bone Marrow
8%
Lung
8%
Gene Interaction Network
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TUBA8TJP1DYNC1I2TUBB4BDYNC1H1DYNC1I1GJA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NY65
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.61–1.12]
RankingsWhere TUBA8 stands among ~20K protein-coding genes
  • #5,449of 20,598
    Most Researched88
  • #4,930of 5,498
    Most Pathogenic Variants1
  • #11,488of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedTUBA8
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
TUBA8: A new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse.
PMID: 10772959
Biochem Biophys Res Commun · 2000
1.00
2
Dysregulation of SAA1, TUBA8 and Monocytes Are Key Factors in Ankylosing Spondylitis With Femoral Head Necrosis.
PMID: 35126370
Front Immunol · 2021
0.90
3
Alpha-syntrophin dependent expression of tubulin alpha 8 protein in hepatocytes.
PMID: 30033487
J Physiol Biochem · 2018
0.80
4
The Genetic Landscape of Polymicrogyria.
PMID: 36211152
Ann Indian Acad Neurol · 2022
0.70
5
Role of a novel CAR-induced gene, TUBA8, in hepatocellular carcinoma cell lines.
PMID: 21872825
Cancer Genet · 2011
0.60