TGFB2

Gene Information
 
Gene Symbol
TGFB2
 
Aliases
LDS4, TGF-beta2
 
Entrez Gene ID
 
Gene Name
Transforming growth factor, beta 2
 
Chromosomal Location
1q41
 
HGNC ID
 
Summary
 
GeneCards ID
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition 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 TAS 14679171
Protein Information
 
Protein Name
Latency-associated peptide
 
Function
TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth.
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00019 TGF_beta Transforming growth factor beta like domain
PF00688 TGFb_propeptide TGF-beta propeptide
 
OMIM

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 20630504
   
References
 
Primary:

A variant in the fibrillin-3 gene is associated with TGF-beta and inhibin B levels in women with polycystic ovary syndrome.

Raja-Khan Nazia, Kunselman Allen R, Demers Laurence M, Ewens Kathryn G, Spielman Richard S, Legro Richard S
Department of Medicine, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA. rsl1@psu.edu
Fertil Steril. 2010 Dec;94(7):2916-9. doi: 10.1016/j.fertnstert.2010.05.047. Epub
 
Supporting Literature:
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 

 

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