TGFB2

Gene Information
 
Gene Symbol
TGFB2
 
Aliases
G-TSF, LDS4, TGF-beta2
 
Entrez Gene ID
 
Gene Name
Transforming growth factor beta 2
 
Chromosomal Location
1q41
 
HGNC ID
 
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000902 Biological process Cell morphogenesis IDA 15896309
GO:0001525 Biological process Angiogenesis TAS 9611771
GO:0001654 Biological process Eye development IDA 15944186
GO:0001666 Biological process Response to hypoxia IMP 12411310
GO:0001837 Biological process Epithelial to mesenchymal transition IDA 10092230, 18223299
Protein Information
 
Protein Name
Transforming growth factor beta-2 proprotein, BSC-1 cell growth inhibitor, cetermin, glioblastoma-derived T-cell suppressor factor, polyergin, prepro-transforming growth factor beta-2
 
Function
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00019 TGF_beta
PF00688 TGFb_propeptide
Pathways
 
KEGG
 
Reactome
 

MAPK signaling pathway
Cytokine-cytokine receptor interaction
FoxO signaling pathway
Cell cycle
Cellular senescence
TGF-beta signaling pathway
Osteoclast differentiation
Hippo signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Leishmaniasis
Chagas disease (American trypanosomiasis)
Malaria
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis B
Human T-cell leukemia virus 1 infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Chronic myeloid leukemia
Hepatocellular carcinoma
Gastric cancer
Inflammatory bowel disease (IBD)
Rheumatoid arthritis
Hypertrophic cardiomyopathy (HCM)
Dilated cardiomyopathy (DCM)

 

Platelet degranulation
Molecules associated with elastic fibres

Interactions
 
STRING MINT IntAct
ENSP00000349437 P11717 P11717
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Aortic Aneurysm
Cardiovascular Abnormalities
Aortic Valve Insufficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital abnormality of respiratory system
Holt-Oram syndrome
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Allele 8 (A8) of D19S884 in the fibrillin-3 gene,inhibin B 
 
 
NIH criteria 
Related 
 
PCOS is associated with higher levels of TGF-1 compared with A8+ PCOS or A8- Non-PCOS, similar levels of TGF-2 compared with A8+ PCOS but lower levels of TGF-2 compared with A8- Non-PCOS, and lower levels of inhibin B and aldosterone compared with A8+ PCOS 

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412