Homo sapiens Gene: TGFB3
Summary
InnateDB Gene IDBG-13145.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TGFB3
Gene Name transforming growth factor, beta 3
Synonyms ARVD; ARVD1; RNHF; TGF-beta3;
Species Homo sapiens
Ensembl Gene ENSG00000119699
Encoded Proteins
transforming growth factor, beta 3
transforming growth factor, beta 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Mar 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:75958099-75982991
Strand Reverse strand
Band q24.3
Transcripts
ENST00000238682 ENSP00000238682
ENST00000554980
ENST00000556507
ENST00000557493
ENST00000556285 ENSP00000451110
ENST00000555193
ENST00000556674
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005114 type II transforming growth factor beta receptor binding
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: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:0007184 SMAD protein import into nucleus
GO:0007435 salivary gland morphogenesis
GO:0007565 female pregnancy
GO:0007568 aging
GO:0007596 blood coagulation
GO:0008156 negative regulation of DNA replication
GO:0008285 negative regulation of cell proliferation
GO:0009887 organ morphogenesis
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:0016049 cell growth
GO:0022601 menstrual cycle phase
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030501 positive regulation of bone mineralization
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:0040007 growth
GO:0042060 wound healing
GO:0042476 odontogenesis
GO:0043065 positive regulation of apoptotic process
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:0045740 positive regulation of DNA replication
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: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:0051781 positive regulation of cell division
GO:0060021 palate development
GO:0060325 face morphogenesis
GO:0060364 frontal suture morphogenesis
GO:0060391 positive regulation of SMAD protein import into nucleus
GO:0070483 detection of hypoxia
GO:0071363 cellular response to growth factor stimulus
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0030141 secretory granule
GO:0030315 T-tubule
GO:0031012 extracellular matrix
GO:0031093 platelet alpha granule lumen
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
Elastic fibre formation pathway
Extracellular matrix organization pathway
Molecules associated with elastic fibres pathway
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
ECM proteoglycans pathway
Response to elevated platelet cytosolic Ca2+ pathway
Hemostasis pathway
KEGG
MAPK signaling pathway pathway
Cytokine-cytokine receptor interaction pathway
Cell cycle pathway
Endocytosis pathway
TGF-beta signaling pathway pathway
Leishmaniasis pathway
Chagas disease (American trypanosomiasis) pathway
Malaria pathway
Toxoplasmosis pathway
Amoebiasis pathway
Pathways in cancer pathway
Colorectal cancer pathway
Renal cell carcinoma pathway
Pancreatic cancer pathway
Chronic myeloid leukemia pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
INOH
GPCR signaling pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID BIOCARTA
Tgf beta signaling pathway [Biocarta view]
Ctcf: first multivalent nuclear factor [Biocarta view]
Signal transduction through il1r [Biocarta view]
Alk in cardiac myocytes [Biocarta view]
Nfkb activation by nontypeable hemophilus influenzae [Biocarta view]
PID NCI
ALK1 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.592317 Hs.714027
RefSeq NM_003239 XM_005268028
HUGO
OMIM
CCDS CCDS9846
HPRD 01829
IMGT
EMBL
GenPept
RNA Seq Atlas