ID:TGFB3_HUMAN DESCRIPTION: RecName: Full=Transforming growth factor beta-3; Short=TGF-beta-3; Flags: Precursor; FUNCTION: Involved in embryogenesis and cell differentiation. SUBUNIT: Homodimer; disulfide-linked. Interacts with ASPN. SUBCELLULAR LOCATION: Secreted. DISEASE: Defects in TGFB3 are a cause of familial arrhythmogenic right ventricular dysplasia type 1 (ARVD1) [MIM:107970]; also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. SIMILARITY: Belongs to the TGF-beta family. SEQUENCE CAUTION: Sequence=CAA33024.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFB3"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfb3/"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tgfb3/"; WEB RESOURCE: Name=Wikipedia; Note=TGF beta-3 entry; URL="http://en.wikipedia.org/wiki/TGF_beta_3";
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 P10600
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005114 type II transforming growth factor beta receptor binding GO:0005125 cytokine activity GO:0005160 transforming growth factor beta receptor binding GO:0005515 protein binding GO:0008083 growth factor activity GO:0034713 type I transforming growth factor beta receptor binding GO:0034714 type III transforming growth factor beta receptor binding GO:0042802 identical protein binding GO:0046982 protein heterodimerization activity GO:0050431 transforming growth factor beta binding
Biological Process: GO:0000187 activation of MAPK activity GO:0001666 response to hypoxia GO:0001701 in utero embryonic development GO:0002576 platelet degranulation GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007435 salivary gland morphogenesis GO:0007565 female pregnancy GO:0007568 aging GO:0008284 positive regulation of cell proliferation GO:0008285 negative regulation of cell proliferation GO:0010469 regulation of receptor activity GO:0010718 positive regulation of epithelial to mesenchymal transition GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010936 negative regulation of macrophage cytokine production GO:0030501 positive regulation of bone mineralization GO:0030509 BMP signaling pathway GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030879 mammary gland development GO:0032570 response to progesterone GO:0032967 positive regulation of collagen biosynthetic process GO:0034616 response to laminar fluid shear stress GO:0042060 wound healing GO:0042476 odontogenesis GO:0042704 uterine wall breakdown GO:0042981 regulation of apoptotic process GO:0043065 positive regulation of apoptotic process GO:0043408 regulation of MAPK cascade GO:0043524 negative regulation of neuron apoptotic process GO:0043627 response to estrogen GO:0043932 ossification involved in bone remodeling GO:0045216 cell-cell junction organization GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048286 lung alveolus development GO:0048468 cell development GO:0048565 digestive tract development GO:0048702 embryonic neurocranium morphogenesis GO:0048839 inner ear development GO:0050714 positive regulation of protein secretion GO:0051491 positive regulation of filopodium assembly GO:0051496 positive regulation of stress fiber assembly GO:0051781 positive regulation of cell division GO:0060325 face morphogenesis GO:0060364 frontal suture morphogenesis GO:0060391 positive regulation of SMAD protein import into nucleus GO:0060395 SMAD protein signal transduction GO:0070483 detection of hypoxia GO:1904706 negative regulation of vascular smooth muscle cell proliferation GO:1905075 positive regulation of occluding junction disassembly GO:1905005 regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
