Entity Details

Primary name TGFB3
Entity type gene
Source Source Link

Details

PrimaryID7043
RefseqGeneNG_011715
SymbolTGFB3
Nametransforming growth factor beta 3
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-05-12
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsTGFB3_HUMAN

GO terms

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GOName
GO:0000187 obsolete activation of MAPK activity
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0002576 platelet degranulation
GO:0005114 type II transforming growth factor beta receptor binding
GO:0005125 cytokine activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007435 salivary gland morphogenesis
GO:0007565 female pregnancy
GO:0007568 aging
GO:0008083 growth factor activity
GO:0008284 positive regulation of cell population proliferation
GO:0008285 negative regulation of cell population proliferation
GO:0009986 cell surface
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:0030315 T-tubule
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:0031093 platelet alpha granule lumen
GO:0032570 response to progesterone
GO:0032967 positive regulation of collagen biosynthetic process
GO:0034616 response to laminar fluid shear stress
GO:0034713 type I transforming growth factor beta receptor binding
GO:0034714 type III transforming growth factor beta receptor binding
GO:0042060 wound healing
GO:0042127 regulation of cell population proliferation
GO:0042476 odontogenesis
GO:0042704 uterine wall breakdown
GO:0042802 identical protein binding
GO:0043025 neuronal cell body
GO:0043065 positive regulation of apoptotic process
GO:0043231 intracellular membrane-bounded organelle
GO:0043524 negative regulation of neuron apoptotic process
GO:0043627 response to estrogen
GO:0043932 ossification involved in bone remodeling
GO:0044877 protein-containing complex binding
GO:0045216 cell-cell junction organization
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048286 lung alveolus development
GO:0048565 digestive tract development
GO:0048702 embryonic neurocranium morphogenesis
GO:0048839 inner ear development
GO:0050431 transforming growth factor beta binding
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 signal transduction
GO:0060395 SMAD protein signal transduction
GO:0062009 secondary palate development
GO:0062023 collagen-containing extracellular matrix
GO:0070483 detection of hypoxia
GO:1904706 negative regulation of vascular associated smooth muscle cell proliferation
GO:1905075 positive regulation of tight junction disassembly

Diseases

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Disease IDSourceNameDescription
615582 OMIMLoeys-Dietz syndrome 5 (LDS5)A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. The disease is caused by variants affecting the gene represented in this entry.
107970 OMIMArrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1)A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by variants affecting the gene represented in this entry.