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: +
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.
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
AB209842 - Homo sapiens mRNA for transforming growth factor, beta 2 variant protein. M19154 - Human transforming growth factor-beta-2 mRNA, complete cds. Y00083 - Human mRNA for glioblastoma-derived T-cell suppressor factor G-TsF (transforming growth factor-beta2, TGF-beta2). BC096235 - Homo sapiens transforming growth factor, beta 2, mRNA (cDNA clone MGC:116890 IMAGE:40005424), complete cds. BC096236 - Homo sapiens cDNA clone IMAGE:40005425. BC099635 - Homo sapiens transforming growth factor, beta 2, mRNA (cDNA clone MGC:116892 IMAGE:40005426), complete cds. BC099636 - Homo sapiens cDNA clone IMAGE:40005427, containing frame-shift errors. AK313106 - Homo sapiens cDNA, FLJ93591, highly similar to Homo sapiens transforming growth factor, beta 2 (TGFB2), mRNA. AK296504 - Homo sapiens cDNA FLJ53052 complete cds, highly similar to Transforming growth factor beta-2 precursor. KJ897663 - Synthetic construct Homo sapiens clone ccsbBroadEn_07057 TGFB2 gene, encodes complete protein. AB590532 - Synthetic construct DNA, clone: pFN21AE1906, Homo sapiens TGFB2 gene for transforming growth factor, beta 2, without stop codon, in Flexi system. AK295671 - Homo sapiens cDNA FLJ51862 complete cds, highly similar to Transforming growth factor beta-2 precursor. AK299839 - Homo sapiens cDNA FLJ50852 complete cds, highly similar to Transforming growth factor beta-2 precursor. A23756 - TGF-beta2(44/45)beta1 hybrid coding region. A23757 - TGF-beta2(44/45)beta3 hybrid coding region. A23752 - TGF-beta2 coding region. JD045047 - Sequence 26071 from Patent EP1572962. JD103073 - Sequence 84097 from Patent EP1572962. JD565942 - Sequence 546966 from Patent EP1572962. AK021874 - Homo sapiens cDNA FLJ11812 fis, clone HEMBA1006364.