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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TGFB2
transforming growth factor beta 2
Chromosome 1 Β· 1q41
NCBI Gene: 7042Ensembl: ENSG00000092969.12HGNC: HGNC:11768UniProt: P61812
387PubMed Papers
22Diseases
4Drugs
112Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of complement-dependent cytotoxicityepithelial cell differentiationpositive regulation of integrin biosynthetic processamyloid-beta bindingLoeys-Dietz syndrome 4Loeys-Dietz syndromefamilial thoracic aortic aneurysm and aortic dissectionmyelodysplastic syndrome
✦AI Summary

TGFB2 (transforming growth factor beta 2) is a multifunctional cytokine that regulates diverse developmental and physiological processes. Primary functions include angiogenesis, heart development, eye development, and epithelial-to-mesenchymal transition (EMT) 12. Mechanistically, TGFB2 is synthesized as an inactive complex with latency-associated peptide (LAP) and remains sequestered in the extracellular matrix through interactions with LTBP1 and LRRC32/GARP. Upon activation and LAP release, mature TGFB2 binds TGF-Ξ² receptors (TGFBR1/2) to transduce signaling via Smad pathways. TGFB2 is critical during nephron induction, where it promotes mesenchymal condensation alongside LIF 3, and maintains microglia identity in the central nervous system 4. Disease relevance is substantial. TGFB2 mutations cause Loeys-Dietz syndrome type 4, an autosomal dominant aortic aneurysm disorder with paradoxically increased TGF-Ξ² signaling despite loss-of-function mutations 5. In cancer, TGFB2 upregulation promotes aggressive phenotypes: in gastric cancer via HOXA10-mediated EMT 6, in pancreatic cancer through gemcitabine resistance via lipid metabolism reprogramming 7, and in lung cancer through radioresistance via KDM4C-dependent transcription 8. High TGFB2 expression predicts poor survival in younger pancreatic cancer patients 9. In type 2 diabetes atherosclerosis, impaired MMP2-dependent TGFB2 activation compromises fibrous cap formation 10, identifying TGFB2 as a therapeutic target for both developmental disorders and cancer.

Sources cited
1
TGFB2 is critical during nephron induction, where it promotes mesenchymal condensation alongside LIF , and maintains microglia identity in the central nervous system .
PMID: 12386301
2
TGFB2 is critical during nephron induction, where it promotes mesenchymal condensation alongside LIF , and maintains microglia identity in the central nervous system .
PMID: 28521131
3
TGFB2 mutations cause Loeys-Dietz syndrome type 4, an autosomal dominant aortic aneurysm disorder with paradoxically increased TGF-Ξ² signaling despite loss-of-function mutations .
PMID: 24443023
4
In cancer, TGFB2 upregulation promotes aggressive phenotypes: in gastric cancer via HOXA10-mediated EMT , in pancreatic cancer through gemcitabine resistance via lipid metabolism reprogramming , and in lung cancer through radioresistance via KDM4C-dependent transcription .
PMID: 33563300
5
In cancer, TGFB2 upregulation promotes aggressive phenotypes: in gastric cancer via HOXA10-mediated EMT , in pancreatic cancer through gemcitabine resistance via lipid metabolism reprogramming , and in lung cancer through radioresistance via KDM4C-dependent transcription .
PMID: 38914663
6
In cancer, TGFB2 upregulation promotes aggressive phenotypes: in gastric cancer via HOXA10-mediated EMT , in pancreatic cancer through gemcitabine resistance via lipid metabolism reprogramming , and in lung cancer through radioresistance via KDM4C-dependent transcription .
PMID: 33558705
7
High TGFB2 expression predicts poor survival in younger pancreatic cancer patients .
PMID: 40650134
8
In type 2 diabetes atherosclerosis, impaired MMP2-dependent TGFB2 activation compromises fibrous cap formation , identifying TGFB2 as a therapeutic target for both developmental disorders and cancer.
PMID: 39653743
Disease Associationsβ“˜22
Loeys-Dietz syndrome 4Open Targets
0.76Strong
Loeys-Dietz syndromeOpen Targets
0.75Strong
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.70Strong
myelodysplastic syndromeOpen Targets
0.56Moderate
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.56Moderate
anemiaOpen Targets
0.51Moderate
atrial fibrillationOpen Targets
0.51Moderate
hypertensionOpen Targets
0.49Moderate
Beta-thalassemiaOpen Targets
0.49Moderate
Inguinal herniaOpen Targets
0.49Moderate
HerniaOpen Targets
0.48Moderate
anemia (phenotype)Open Targets
0.48Moderate
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.48Moderate
Hernia of the abdominal wallOpen Targets
0.48Moderate
essential hypertensionOpen Targets
0.47Moderate
thyroid cancerOpen Targets
0.46Moderate
nontoxic goiterOpen Targets
0.46Moderate
hypothyroidismOpen Targets
0.45Moderate
thyroid diseaseOpen Targets
0.43Moderate
multinodular goiterOpen Targets
0.42Moderate
Camurati-Engelmann disease 2UniProt
Loeys-Dietz syndrome 4UniProt
Pathogenic Variants112
NM_003238.6(TGFB2):c.346+1G>APathogenic
not provided|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2026
NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 341
NM_003238.6(TGFB2):c.814A>T (p.Lys272Ter)Pathogenic
not provided|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 272
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2026β†’ Residue 193
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)Pathogenic
Loeys-Dietz syndrome 4|not provided|TGFB2-related disorder|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 320
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_003238.6(TGFB2):c.932+1G>APathogenic
not provided|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2025
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)Pathogenic
Loeys-Dietz syndrome|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 131
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)Pathogenic
not provided|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_003238.6(TGFB2):c.128_131dup (p.Leu45fs)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2025β†’ Residue 45
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter)Pathogenic
Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 99
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_003238.6(TGFB2):c.346+1G>TLikely pathogenic
Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)Pathogenic
Loeys-Dietz syndrome 4|not provided|Aortic aneurysm, familial thoracic, TGFB2 related|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection|TGFB2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_003238.6(TGFB2):c.194dup (p.Glu66fs)Pathogenic
Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_003238.6(TGFB2):c.356del (p.Pro119fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter)Pathogenic
Loeys-Dietz syndrome 4|Loeys-Dietz syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 49
NM_003238.6(TGFB2):c.821dup (p.Asn274fs)Pathogenic
not provided|not specified|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4
β˜…β˜…β˜†β˜†2024β†’ Residue 274
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter)Pathogenic
Loeys-Dietz syndrome 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 308
View on ClinVar β†—
Drug Targets4
BINTRAFUSP ALFAPhase III
Programmed cell death 1 ligand 1 binding agent
non-small cell lung carcinoma
FRESOLIMUMABPhase II
Transforming growth factor beta-1 inhibitor
brain cancer
LUSPATERCEPTApproved
Transforming growth factor beta inhibitor
anemia
TRABEDERSENPhase II
Transforming growth factor beta-2 mRNA antisense inhibitor
malignant pleural mesothelioma
Related Genes
EGFRProtein interaction100%LTBP4Protein interaction100%BGNProtein interaction99%IGF1Protein interaction99%TNFProtein interaction97%IL6Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
51%
Ovary
35%
Lung
23%
Bone Marrow
3%
Liver
3%
Gene Interaction Network
Click a node to explore
TGFB2EGFRLTBP4BGNIGF1TNFIL6
PROTEIN STRUCTURE
Preparing viewer…
PDB2TGI Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.18–0.46]
RankingsWhere TGFB2 stands among ~20K protein-coding genes
  • #771of 20,598
    Most Researched387 Β· top 5%
  • #758of 1,025
    FDA-Approved Drug Targets1
  • #696of 5,498
    Most Pathogenic Variants112 Β· top quartile
  • #2,627of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedTGFB2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Loeys-Dietz syndrome.
PMID: 24443023
Adv Exp Med Biol Β· 2014
1.00
2
USP9X-mediated KDM4C deubiquitination promotes lung cancer radioresistance by epigenetically inducing TGF-Ξ²2 transcription.
PMID: 33558705
Cell Death Differ Β· 2021
0.90
3
Diverse Requirements for Microglial Survival, Specification, and Function Revealed by Defined-Medium Cultures.
PMID: 28521131
Neuron Β· 2017
0.80
4
Nephron induction.
PMID: 12386301
Nephrol Dial Transplant Β· 2002
0.70
5
Knockdown of TGFB2 Attenuates Ischemic Heart Failure by Inhibiting Apoptosis.
PMID: 40080329
Cardiovasc Toxicol Β· 2025
0.68