TGF-beta2 Human Active Protein

This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types by transducing their signal through combinations of transmembrane type I and type II receptors (TGFBR1 and TGFBR2) and their downstream effectors, the SMAD proteins. Disruption of the TGFB/SMAD pathway has been implicated in a variety of human cancers. The encoded protein is secreted and has suppressive effects of interleukin-2 dependent T-cell growth. Translocation t(1;7)(q41;p21) between this gene and HDAC9 is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. The knockout mice lacking this gene show perinatal mortality and a wide range of developmental, including cardiac, defects. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

Function: TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth.

Subunit structure: Homodimer; disulfide-linked

By similarity. Heterodimers with TGFB1 and with TGFB3 have been found in bone

By similarity. Interacts with the serine proteases, HTRA1 and HTRA3

By similarity. Latency-associated peptide interacts with NREP; the interaction results in a decrease in TGFB2 autoinduction

By similarity. Interacts with ASPN. Ref.11

Subcellular location: Secreted.

Post-translational modification: The precursor is cleaved into mature TGF-beta-2 and LAP, which remains non-covalently linked to mature TGF-beta-2 rendering it inactive

By similarity.

Involvement in disease: A chromosomal aberration involving TGFB2 is found in a family with Peters anomaly. Translocation t(1;7)(q41;p21) with HDAC9.Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

Sequence similarities: Belongs to the TGF-beta family.