BMP2 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, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | BMP2 |
| Official Name | bone morphogenetic protein 2 [Source:HGNC Symbol;Acc:HGNC:1069] |
| Ensembl ID | ENSG00000125845 |
| Bio databases IDs | |
| Aliases | bone morphogenetic protein 2 |
| Synonyms | AI467020, BDA2, BMP2A, bone morphogenetic protein 2, BONE MORPHOGENIC protein 2, SSFSC, SSFSC1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 BMP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase activator
- TGF_beta_SF
- Transforming growth factor beta like domain
- receptor agonist activity
- protein domain specific binding
- phosphatase activator
- protein binding
- receptor binding
- cytokine
- identical protein binding
- growth factor
- TGF-beta propeptide
Pathways
Biological processes and signaling networks where the BMP2 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- Axonal Guidance Signaling
- Basal Cell Carcinoma Signaling
- BMP signaling pathway
- Cardiomyocyte Differentiation via BMP Receptors
- Factors Promoting Cardiogenesis in Vertebrates
- Human Embryonic Stem Cell Pluripotency
- IL-10 Signaling
- ILK Signaling
- Iron homeostasis signaling pathway
- Molecular Mechanisms of Cancer
- NF-κB Signaling
- Osteoarthritis Pathway
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
- TGF-β Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- papillary thyroid carcinoma
- papillary thyroid cancer
- brachydactyly type A2
- open-angle glaucoma
- developmental delay
- iron overload
- HFE-associated hereditary hemochromatosis
- recurrent implantation failure
- short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
role in cell
- activation in
- expression in
- phosphorylation in
- apoptosis
- synthesis in
- migration
- transcription in
- binding in
- invasion
- production 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
- Cytoplasm
- cilia
- cell surface
- perinuclear region
- Plasma Membrane
- vesicles
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BMP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mesenchyme development
- positive regulation of protein binding
- inner ear development
- positive regulation of peroxisome proliferator activated receptor signaling pathway
- thyroid-stimulating hormone-secreting cell differentiation
- positive regulation of fat cell differentiation
- transcription from RNA polymerase II promoter
- positive regulation of astrocyte differentiation
- aortic valve development
- positive regulation of sequence-specific DNA binding transcription factor activity
- cardiac atrium formation
- endodermal-mesodermal cell signaling
- positive regulation of extracellular matrix constituent secretion
- corticotropin hormone secreting cell differentiation
- endocardial cushion morphogenesis
- inflammatory response
- heart induction
- response to hypoxia
- skeletal system development
- negative regulation of transcription, DNA-dependent
- cellular response to BMP stimulus
- positive regulation of transcription, DNA-dependent
- in utero embryonic development
- BMP signaling pathway
- mesenchymal cell differentiation
- negative regulation of calcium-independent cell-cell adhesion
- cardiac muscle cell differentiation
- positive regulation of bone mineralization
- cardiac muscle tissue morphogenesis
- negative regulation of steroid biosynthetic process
- positive regulation of osteoblast proliferation
- atrioventricular valve morphogenesis
- cell-cell signaling
- cardiac epithelial to mesenchymal transition
- pericardium development
- positive regulation of p38MAPK cascade
- organ morphogenesis
- positive regulation of ossification
- negative regulation of gene expression
- Notch signaling pathway
- positive regulation of gene expression
- negative regulation of cardiac muscle cell differentiation
- epithelial to mesenchymal transition
- mesenchymal cell proliferation involved in ureteric bud development
- positive regulation of Wnt receptor signaling pathway
- cellular response to organic cyclic compound
- positive regulation of cell migration
- positive regulation of cartilage development
- negative regulation of MAP kinase activity
- telencephalon development
- negative regulation of cortisol biosynthetic process
- telencephalon regionalization
- negative regulation of cell proliferation
- positive regulation of cell proliferation
- chondrocyte differentiation
- lung vasculature development
- endocardial cushion formation
- negative regulation of cell cycle
- positive regulation of neuron differentiation
- odontogenesis of dentin-containing tooth
- positive regulation of bone mineralization involved in bone maturation
- positive regulation of osteoblast differentiation
- positive regulation of transcription from RNA polymerase II promoter
- proteoglycan metabolic process
- negative regulation of insulin-like growth factor receptor signaling pathway
- bone development
- positive regulation of epithelial to mesenchymal transition
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- positive regulation of odontogenesis
- negative regulation of smooth muscle cell proliferation
- osteoblast differentiation
- positive regulation of SMAD protein import into nucleus
- negative regulation of aldosterone biosynthetic process
- astrocyte differentiation
- cardiac cell differentiation
- bone mineralization
- embryonic heart tube anterior/posterior pattern specification
- negative regulation of fat cell differentiation
- regulation of transcription, DNA-dependent
- positive regulation of MAPK cascade
- regulation of odontogenesis of dentin-containing tooth
- osteoclast differentiation
- negative regulation of canonical Wnt receptor signaling pathway
- protein destabilization
- response to bacterium
- positive regulation of phosphatase activity
- branching involved in ureteric bud morphogenesis
- cell fate commitment
- positive regulation of protein phosphorylation
- positive regulation of apoptotic process
- positive regulation of ERK1 and ERK2 cascade
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular space
- intracellular membrane-bounded organelle
- BMP receptor complex
- extracellular region
- cell surface
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein serine/threonine kinase activator activity
- protein binding
- phosphatase activator activity
- cytokine activity
- receptor binding
- BMP receptor binding