TGFBR2 (Transforming Growth Factor Beta Receptor 2)

TGFBR2 (Transforming Growth Factor Beta Receptor 2)

Overview

TGFBR2 (Transforming Growth Factor Beta Receptor 2)

Overview

<table class="infobox infobox-gene">
<tr><th colspan="2" style="background:#e6f2ff;">TGFBR2</th></tr>
<tr><td><b>Gene Symbol</b></td><td>TGFBR2</td></tr> [@tgf2019]
<tr><td><b>Full Name</b></td><td>Transforming Growth Factor Beta Receptor 2</td></tr> [@tgf2022]
<tr><td><b>Aliases</b></td><td>TBR-II, TGF-betaR2</td></tr> [@tgfbr2018]
<tr><td><b>Chromosomal Location</b></td><td>3p22.1</td></tr> [@tgf2021]
<tr><td><b>Gene Type</b></td><td>Protein coding</td></tr> [@bloodbrain2020]
<tr><td><b>NCBI Gene ID</b></td><td>[7048](https://www.ncbi.nlm.nih.gov/gene/7048)</td></tr> [@tgf2023]
<tr><td><b>OMIM</b></td><td>[190182](https://omim.org/entry/190182)</td></tr>
<tr><td><b>Ensembl ID</b></td><td>ENSG00000163513</td></tr>
<tr><td><b>UniProt ID</b></td><td>[P37173](https://www.uniprot.org/uniprot/P37173)</td></tr>
<tr><td><b>Associated Diseases</b></td><td>[Alzheimer's disease](/diseases/alzheimer's-disease), [Parkinson's disease](/diseases/parkinson's-disease), [ALS](/diseases/ALS), [Marfan syndrome](/diseases/marfan-syndrome), [Loeys-Dietz syndrome](/diseases/loeys-dietz-syndrome)</td></tr>
</table>

Function

TGFBR2 (Transforming Growth Factor Beta Receptor 2) encodes the type II TGF-β receptor, a transmembrane serine/threonine kinase that is essential for TGF-β signaling. TGFBR2 is the primary receptor that binds TGF-β ligands and then recruits and phosphorylates TGFBR1 (type I receptor) to initiate downstream signaling.

Signaling Mechanism

TGF-β signaling through TGFBR2:

Neuroprotective Functions

In the central nervous system, TGFBR2-mediated signaling is crucial for:

• Neuronal survival: Anti-apoptotic signaling through multiple pathways
• Neuroinflammation: Suppression of microglial activation
• Synaptic plasticity: Regulation of dendritic spine formation
• Astrocyte function: Modulation of astrocytic responses
• Oligodendrocyte maturation: Promotes myelination
• [Blood-brain barrier](/entities/blood-brain-barrier): Maintains integrity

Non-SMAD Pathways

TGFBR2 also activates:

• PI3K/Akt: Pro-survival signaling
• MAPK/ERK: Cell proliferation and differentiation
• Rho GTPases: Cytoskeletal regulation

Disease Associations

Alzheimer's Disease

TGF-β/TGFBR2 signaling in AD:

• Neuroprotection: Reduced signaling correlates with pathology
• Amyloid clearance: TGF-β promotes microglial [Aβ](/proteins/amyloid-beta) clearance
• Synaptic function: Protects against synaptic loss
• Therapeutic potential: TGF-β agonists under investigation

Parkinson's Disease

• Dopaminergic neuron survival: TGFBR2 protects against toxicity
• Neuroinflammation: Suppresses microglial activation
• Mitochondrial function: Modulates mitophagy
• Therapeutic target: Gene therapy approaches

Amyotrophic Lateral Sclerosis

• Motor neuron degeneration: Altered TGF-β signaling
• Glial responses: Affects astrocyte and [microglia](/cell-types/microglia-neuroinflammation) function
• Disease progression: Biomarker potential

Additional Conditions

• Marfan syndrome: TGF-β dysregulation contributes to phenotype
• Loeys-Dietz syndrome: TGFBR2 mutations cause the condition
• Cancer: Dual role as tumor suppressor and promoter

Expression

TGFBR2 is widely expressed in the brain:

| Cell Type | Expression Level |
|-----------|------------------|
| [Neurons](/entities/neurons) | High |
| [Astrocytes](/entities/astrocytes) | High |
| Microglia | Moderate |
| Oligodendrocytes | Moderate |
| Endothelial cells | High (BBB) |

Expression is dynamically regulated during development and disease.

Therapeutic Implications

Drug Development

• TGF-β agonists: Neuroprotective strategies
• TGFBR2 modulators: Receptor-targeted approaches
• Gene therapy: Viral vector delivery to brain

Biomarkers

• CSF TGF-β levels correlate with disease
• TGFBR2 expression as therapeutic indicator

Clinical Trials

• TGF-β modulation in neurodegeneration
• Gene therapy approaches for TGFBR2 delivery

Cross-Links

• [TGF-beta signaling pathway](/mechanisms/tgf-beta-signaling-pathway)
• [SMAD proteins](/content/proteins)
• [Neuroinflammation](/mechanisms/neuroinflammation)
• [Alzheimer's disease mechanisms](/content/mechanisms)
• [Parkinson's disease mechanisms](/mechanisms/parkinsons-disease-mechanisms)
• [TGFBR1](/genes/tgfbr1)
• [Microglia](/entities/microglia)
• [Blood-brain barrier](/mechanisms/blood-brain-barrier)

See Also

• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)

External Links

• [Ensembl: ENSG00000163513](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163513)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving TGFBR2 (Transforming Growth Factor Beta Receptor 2) discovered through SciDEX knowledge graph analysis: