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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TUBA3E
tubulin alpha 3e
Chromosome 2 · 2q21.1
NCBI Gene: 112714Ensembl: ENSG00000152086.9HGNC: HGNC:20765UniProt: A0AAG2UW83
41PubMed Papers
0Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmicrotubule cytoskeletonnucleusmitotic cell cycle
✦AI Summary

TUBA3E encodes tubulin alpha 3e, a major structural component of microtubules that form the cytoskeletal backbone essential for cellular organization and division [UniProt]. As an alpha-tubulin, TUBA3E heterodimerizes with beta-tubulin and polymerizes into microtubule protofilaments through GTP-dependent mechanisms, with GTPase activity of the alpha-tubulin regulating microtubule dynamics [UniProt]. TUBA3E was identified as a novel disease gene associated with neurological disorders through whole-exome sequencing of consanguineous families with recessive inheritance patterns 1. Beyond neurogenetic disease, TUBA3E has emerged as a clinically relevant biomarker in oncology: it was incorporated into a 9-gene prognostic risk model for breast cancer predicting neoadjuvant chemotherapy response and overall survival 2, and identified as part of a 5-gene aggrephagy-related signature associated with breast cancer prognosis and immune microenvironment characteristics 3. Additionally, TUBA3E expression is dysregulated in gestational exposure models of breast cancer risk and correlates with poor survival outcomes in human breast cancer cohorts 4. TUBA3E was also identified as a key therapeutic target in dilated cardiomyopathy-induced heart failure through co-expression network analysis 5.

Sources cited
1
TUBA3E identified as novel recessive disease gene in neurological disorders through whole-exome sequencing of consanguineous families
PMID: 25558065
2
TUBA3E included in 9-gene prognostic risk model for breast cancer predicting chemotherapy response and overall survival
PMID: 37747033
3
TUBA3E part of 5-gene aggrephagy-related prognostic signature in breast cancer associated with immune infiltration and prognosis
PMID: 39432642
4
TUBA3E dysregulated in gestational BPA and high-fat diet exposure model; associated with poor overall survival in TCGA breast cancer cohort
PMID: 28487351
5
TUBA3E identified as key therapeutic target in dilated cardiomyopathy-induced heart failure through weighted gene co-expression network analysis
PMID: 37346398
Pathogenic Variants1
NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)Likely pathogenic
Primary microcephaly;Seizure;Lissencephaly;Global developmental delay
☆☆☆☆2014→ Residue 215
View on ClinVar ↗
Related Genes
TUBA3CShared pathway100%TJP1Protein interaction100%DYNC1I2Protein interaction97%PFDN2Protein interaction97%DYNC1I1Protein interaction96%GJA1Protein interaction96%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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TUBA3ETUBA3CTJP1DYNC1I2PFDN2DYNC1I1GJA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6PEY2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.43–0.88]
RankingsWhere TUBA3E stands among ~20K protein-coding genes
  • #10,105of 20,598
    Most Researched41
  • #5,164of 5,498
    Most Pathogenic Variants1
  • #7,821of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedTUBA3E
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep · 2015
1.00
2
Identification and validation of molecular subtypes and a 9-gene risk model for breast cancer.
PMID: 37747033
Medicine (Baltimore) · 2023
0.80
3
Exploring the role of aggrephagy-related signatures in immune microenvironment, prognosis, and therapeutic strategies of breast cancer.
PMID: 39432642
Medicine (Baltimore) · 2024
0.60
4
Gestational high-fat diet and bisphenol A exposure heightens mammary cancer risk.
PMID: 28487351
Endocr Relat Cancer · 2017
0.40
5
Exploring novel biomarkers in dilated cardiomyopathy‑induced heart failure by integrated analysis and
PMID: 37346398
Exp Ther Med · 2023
0.20