TGFB3 Gene Summary [Human]

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. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]

Details

Type
Protein Coding
Official Symbol
TGFB3
Official Name
transforming growth factor beta 3 [Source:HGNC Symbol;Acc:HGNC:11769]
Ensembl ID
ENSG00000119699
Bio databases IDs NCBI: 7043 Ensembl: ENSG00000119699
Aliases transforming growth factor beta 3, prepro-transforming growth factor beta-3
Synonyms ARVD, ARVD1, LDS5, PTGF β, RNHF, TGF-beta-3, TGF-β-3, TRANSFORMING GROWTH FACTOR beta 3, transforming growth factor, beta 3, TRANSFORMING GROWTH FACTOR β 3, transforming growth factor, β 3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGFB3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • punt binding
  • binding protein
  • transforming growth factor-beta receptor binding
  • TGF_beta_SF
  • Transforming growth factor beta like domain
  • protein binding
  • TGFbeta binding
  • identical protein binding
  • growth factor
  • TGF-beta propeptide

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • epithelial cancer
  • epithelial neoplasia
  • breast carcinoma
  • breast cancer
  • breast or ovarian cancer
  • urogenital cancer
  • lymphoma
  • lymphomagenesis
  • Loeys-Dietz syndrome type 5
regulated by
regulates
role in cell
  • cell death
  • apoptosis
  • growth
  • number
  • activation in
  • accumulation in
  • proliferation
  • expression in
  • differentiation
  • signaling in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • intracellular membrane-bounded organelle
  • cell surface
  • alpha granules
  • transverse tubules
  • secretory granules
  • extracellular matrix
  • perikaryon

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TGFB3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • frontal suture morphogenesis
  • inner ear development
  • response to estrogen stimulus
  • negative regulation of cell proliferation
  • positive regulation of cell proliferation
  • response to progesterone stimulus
  • transforming growth factor beta receptor signaling pathway
  • positive regulation of filopodium assembly
  • odontogenesis
  • positive regulation of transcription from RNA polymerase II promoter
  • face morphogenesis
  • salivary gland morphogenesis
  • negative regulation of neuron apoptotic process
  • positive regulation of epithelial to mesenchymal transition
  • lung alveolus development
  • response to hypoxia
  • positive regulation of collagen biosynthetic process
  • positive regulation of cell division
  • positive regulation of transcription, DNA-dependent
  • in utero embryonic development
  • digestive tract development
  • negative regulation of macrophage cytokine production
  • detection of hypoxia
  • positive regulation of protein secretion
  • positive regulation of SMAD protein import into nucleus
  • uterine wall breakdown
  • embryonic neurocranium morphogenesis
  • female pregnancy
  • positive regulation of MAPK cascade
  • cell-cell junction organization
  • regulation of cell proliferation
  • mammary gland development
  • response to laminar fluid shear stress
  • positive regulation of stress fiber assembly
  • positive regulation of apoptotic process
  • negative regulation of transforming growth factor beta receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • platelet alpha granule lumen
  • T-tubule
  • extracellular space
  • intracellular membrane-bounded organelle
  • neuronal cell body
  • extracellular region
  • plasma membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • transforming growth factor beta binding
  • identical protein binding
  • growth factor activity
  • protein binding
  • type III transforming growth factor beta receptor binding
  • type II transforming growth factor beta receptor binding
  • cytokine activity
  • type I transforming growth factor beta receptor binding

Gene-Specific Assays for Results You Can Trust

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