BMP3 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 each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
BMP3
Official Name
bone morphogenetic protein 3 [Source:HGNC Symbol;Acc:HGNC:1070]
Ensembl ID
ENSG00000152785
Bio databases IDs NCBI: 651 Ensembl: ENSG00000152785
Aliases bone morphogenetic protein 3, osteogenin
Synonyms 9530029I04Rik, BMP-3A, BMPY, bone morphogenetic protein 3, D630004D15Rik, Osteogenin, PBMP3
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 BMP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • TGF_beta_SF
  • Transforming growth factor beta like domain
  • receptor binding
  • growth factor

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • degenerative disc disease
  • myopia
  • ulcerative colitis
  • refractive error
  • astigmatism
  • retinal detachment
  • progressive vision loss
  • cataract
regulated by
regulates
  • insulin
  • SMAD2
  • RNA polymerase II
  • DNA promoter
  • DNA endogenous promoter
  • MSX2
  • BMPR (complex)
  • proinsulin
role in cell
  • differentiation
  • phosphorylation in
  • expression in
  • ossification by

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
  • vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BMP3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • skeletal system development
  • signal transduction
  • cell-cell signaling
  • osteoblast differentiation
  • cartilage development

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • extracellular vesicular exosome

Molecular Function

What the gene product does at the molecular level
  • growth factor activity
  • cytokine activity
  • receptor binding
  • BMP receptor binding

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