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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBL2
transducin beta like 2
Chromosome 7 · 7q11.23
NCBI Gene: 26608Ensembl: ENSG00000106638.18HGNC: HGNC:11586UniProt: E9PF19
143PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingprotein kinase bindingtranslation initiation factor bindinggoutAbnormality of the skeletal systemphysical activitytype 2 diabetes mellitus
✦AI Summary

TBL2 (transducin beta-like 2) is a WD40 repeat-containing, ER-localized transmembrane protein functioning as a multifunctional scaffold and translational regulator. Primary function: TBL2 regulates translation of specific mRNAs during endoplasmic reticulum (ER) stress 1. The WD40 domain enables direct binding to ATF4 mRNA and association with the 60S ribosomal subunit, facilitating selective ATF4 translation when global protein synthesis is suppressed 12. Mechanism: TBL2 acts as a scaffolding protein promoting protein-protein interactions. It facilitates PRMT5-WDR77 complex formation to enhance AKT phosphorylation 3 and interacts with PERK during ER stress to support ATF4-mediated stress adaptation 1. Additionally, TBL2 interacts with the mitochondrial protein TERE1 to regulate oxidative stress and nuclear receptor signaling 4. Disease relevance: TBL2 is overexpressed in multiple malignancies. In breast cancer, elevated TBL2 correlates with poor survival and promotes proliferation via AKT activation 3. In lung adenocarcinoma, TBL2 acts as a driver gene facilitating ER stress adaptation and tumor growth 5. In glioblastoma, TBL2 suppression inhibits proliferation and migration through AMPK/mTOR-mediated autophagy 6. Beyond cancer, reduced TBL2 methylation associates with hyperlipidemia risk 7, and genetic variants influence lipid metabolism 8. Clinical significance: TBL2 represents a potential therapeutic target across multiple cancer types and metabolic disorders.

Sources cited
1
TBL2 is overexpressed in breast cancer, promotes cell proliferation via PRMT5/WDR77-mediated AKT phosphorylation activation, and correlates with poor survival outcomes
PMID: 39499734
2
TBL2 associates with ATF4 mRNA through its WD40 domain and regulates ATF4 translation during ER stress
PMID: 26239904
3
TBL2 is an ER stress-related driver gene overexpressed in lung adenocarcinoma that promotes cell proliferation and inhibits apoptosis under ER stress by upregulating ATF4
PMID: 37477745
4
TBL2 knockdown inhibits glioblastoma cell proliferation, migration, and invasion while promoting apoptosis through autophagy induction via the AMPK/mTOR signaling pathway
PMID: 41101043
5
TBL2 gene methylation is lower in individuals with hyper-LDL cholesterolemia, suggesting methylation changes associate with lipid metabolism risk
PMID: 32811528
6
The MLXIPL/TBL2 rs17145738 SNP associates with serum lipid levels in an ethnicity and sex-specific manner
PMID: 24160749
7
TBL2 is a mitochondrial WD40 protein that interacts with TERE1 and regulates mitochondrial membrane potential, ROS/RNS production, and SXR target gene expression
PMID: 23564352
8
TBL2 associates with the 60S ribosomal subunit in an ER stress-independent manner through its WD40 domain
PMID: 25976671
Disease Associationsⓘ20
goutOpen Targets
0.40Moderate
Abnormality of the skeletal systemOpen Targets
0.37Weak
physical activityOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.32Weak
hearing lossOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.16Weak
migraine disorderOpen Targets
0.13Weak
squamous cell carcinomaOpen Targets
0.12Weak
cancerOpen Targets
0.12Weak
heart failureOpen Targets
0.11Weak
microcephalyOpen Targets
0.11Weak
HypertriglyceridemiaOpen Targets
0.11Weak
coronary artery diseaseOpen Targets
0.10Weak
strokeOpen Targets
0.10Weak
atrial fibrillationOpen Targets
0.10Weak
HypercholesterolemiaOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
familial lipoprotein lipase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MLXIPLProtein interaction94%LIMK1Protein interaction84%EIF4HProtein interaction84%CLIP2Protein interaction84%FZD9Protein interaction84%FKBP6Protein interaction84%
Tissue Expression6 tissues
Ovary
100%
Liver
91%
Lung
73%
Brain
59%
Heart
51%
Bone Marrow
42%
Gene Interaction Network
Click a node to explore
TBL2MLXIPLLIMK1EIF4HCLIP2FZD9FKBP6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y4P3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.60–1.05]
RankingsWhere TBL2 stands among ~20K protein-coding genes
  • #3,209of 20,598
    Most Researched143 · top quartile
  • #10,564of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedTBL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TBL2 Promotes Tumorigenesis via PRMT5/WDR77-Mediated AKT Activation in Breast Cancer.
PMID: 39499734
Adv Sci (Weinh) · 2024
1.00
2
TBL2 Associates With ATF4 mRNA Via Its WD40 Domain and Regulates Its Translation During ER Stress.
PMID: 26239904
J Cell Biochem · 2016
0.90
3
Transducin Beta-Like 2 is a Potential Driver Gene that Adapts to Endoplasmic Reticulum Stress to Promote Tumor Growth of Lung Adenocarcinoma.
PMID: 37477745
Ann Surg Oncol · 2023
0.80
4
TBL2 modulates glioblastoma progression by inducing autophagy through by the AMPK/mTOR signaling pathway.
PMID: 41101043
Tissue Cell · 2026
0.70
5
TBL2 methylation is associated with hyper-low-density lipoprotein cholesterolemia: a case-control study.
PMID: 32811528
Lipids Health Dis · 2020
0.60