Description: Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA. RefSeq Summary (NM_003238): 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]. Transcript (Including UTRs) Position: hg19 chr1:218,518,676-218,617,961 Size: 99,286 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr1:218,520,044-218,614,704 Size: 94,661 Coding Exon Count: 7
ID:TGFB2_HUMAN DESCRIPTION: RecName: Full=Transforming growth factor beta-2; Short=TGF-beta-2; AltName: Full=BSC-1 cell growth inhibitor; AltName: Full=Cetermin; AltName: Full=Glioblastoma-derived T-cell suppressor factor; Short=G-TSF; AltName: Full=Polyergin; Flags: Precursor; FUNCTION: TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth. SUBUNIT: 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). Interacts with ASPN. INTERACTION: P05067:APP; NbExp=6; IntAct=EBI-779581, EBI-77613; SUBCELLULAR LOCATION: Secreted. DISEASE: Note=A chromosomal aberration involving TGFB2 is found in a family with Peters anomaly. Translocation t(1;7)(q41;p21) with HDAC9. SIMILARITY: Belongs to the TGF-beta family. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfb2/"; WEB RESOURCE: Name=Wikipedia; Note=TGF beta-2 entry; URL="http://en.wikipedia.org/wiki/TGF_beta_2";
Attention Deficit Disorder with Hyperactivity Jessica Lasky-Su et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2008, Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic.
[PubMed 18821565]
Exercise Test Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P61812
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.