BMP4

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 regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

Bone Morphogenetic Protein 4

Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885).
Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).
Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:25868050, PubMed:8006002).
Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes (PubMed:25868050, PubMed:29212066).
Can also signal through non-canonical BMP pathways such as ERK/MAP kinase, PI3K/Akt, or SRC cascades (PubMed:31363885).
For example, induces SRC phosphorylation which, in turn, activates VEGFR2, leading to an angiogenic response (PubMed:31363885).

Activation of MAPKK activity Source: UniProtKB
Anterior/posterior axis specification Source: Ensembl
Aortic valve morphogenesis Source: BHF-UCL
Blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: BHF-UCL
BMP signaling pathway Source: BHF-UCL
BMP signaling pathway involved in heart development Source: BHF-UCL
BMP signaling pathway involved in heart induction Source: BHF-UCL
BMP signaling pathway involved in nephric duct formation Source: UniProtKB
BMP signaling pathway involved in renal system segmentation Source: UniProtKB
BMP signaling pathway involved in ureter morphogenesis Source: UniProtKB
Branching involved in prostate gland morphogenesis Source: Ensembl
Branching involved in ureteric bud morphogenesis Source: UniProtKB
Branching morphogenesis of an epithelial tube Source: UniProtKB
Bronchus development Source: MGI
Bud dilation involved in lung branching Source: MGI
Bud elongation involved in lung branching Source: Ensembl
Cardiac muscle cell differentiation Source: Ensembl
Cardiac septum development Source: BHF-UCL
Cellular protein metabolic process Source: Reactome
Cellular response to BMP stimulus Source: BHF-UCL
Chondrocyte differentiation Source: UniProtKB
Cloacal septation Source: Ensembl
Common-partner SMAD protein phosphorylation Source: UniProtKB
Coronary vasculature development Source: BHF-UCL
Cranial suture morphogenesis Source: Ensembl
Deltoid tuberosity development Source: UniProtKB
Dorsal/ventral neural tube patterning Source: Ensembl
Embryonic cranial skeleton morphogenesis Source: Ensembl
Embryonic digit morphogenesis Source: Ensembl
Embryonic hindlimb morphogenesis Source: Ensembl
Embryonic skeletal joint morphogenesis Source: Ensembl
Endocardial cushion development Source: BHF-UCL
Endochondral ossification Source: UniProtKB
Endoderm development Source: Ensembl
Epithelial cell proliferation involved in lung morphogenesis Source: MGI
Epithelial-mesenchymal cell signaling Source: Ensembl
Epithelial tube branching involved in lung morphogenesis Source: MGI
Erythrocyte differentiation Source: Ensembl
Germ cell development Source: Ensembl
Glomerular capillary formation Source: UniProtKB
Glomerular visceral epithelial cell development Source: Ensembl
Hematopoietic progenitor cell differentiation Source: UniProtKB
Inner ear receptor cell differentiation Source: Ensembl
Intermediate mesodermal cell differentiation Source: UniProtKB
Kidney development Source: UniProtKB
Lens induction in camera-type eye Source: Ensembl
Lung alveolus development Source: MGI
Lung morphogenesis Source: MGI
Lymphoid progenitor cell differentiation Source: BHF-UCL
Macrophage differentiation Source: DFLAT
Mammary gland formation Source: Ensembl
Membranous septum morphogenesis Source: BHF-UCL
Mesenchymal cell differentiation involved in kidney development Source: Ensembl
Mesenchymal cell proliferation involved in ureter development Source: Ensembl
Mesenchymal cell proliferation involved in ureteric bud development Source: Ensembl
Mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
Mesodermal cell fate determination Source: Ensembl
Mesonephros development Source: UniProtKB
Metanephric collecting duct development Source: UniProtKB
Monocyte differentiation Source: DFLAT
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway Source: UniProtKB
Negative regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
Negative regulation of cell cycle Source: HGNC-UCL
Negative regulation of cell death Source: UniProtKB
Negative regulation of cell population proliferation Source: MGI
Negative regulation of cell proliferation involved in heart morphogenesis Source: BHF-UCL
Negative regulation of chondrocyte differentiation Source: Ensembl
Negative regulation of epithelial cell proliferation Source: Ensembl
Negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCL
Negative regulation of gene expression Source: BHF-UCL
Negative regulation of glomerular mesangial cell proliferation Source: UniProtKB
Negative regulation of glomerulus development Source: UniProtKB
Negative regulation of immature T cell proliferation in thymus Source: BHF-UCL
Negative regulation of MAP kinase activity Source: UniProtKB
Negative regulation of mesenchymal cell proliferation involved in ureter development Source: UniProtKB
Negative regulation of metanephric comma-shaped body morphogenesis Source: UniProtKB
Negative regulation of metanephric S-shaped body morphogenesis Source: UniProtKB
Negative regulation of mitotic nuclear division Source: UniProtKB
Negative regulation of myoblast differentiation Source: MGI
Negative regulation of phosphorylation Source: UniProtKB
Negative regulation of pri-miRNA transcription by RNA polymerase II Source: BHF-UCL
Negative regulation of prostatic bud formation Source: Ensembl
Negative regulation of striated muscle tissue development Source: MGI
Negative regulation of T cell differentiation in thymus Source: BHF-UCL
Negative regulation of thymocyte apoptotic process Source: BHF-UCL
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: MGI
Neural tube closure Source: Ensembl
Neuron fate commitment Source: Ensembl
Odontogenesis Source: UniProtKB
Odontogenesis of dentin-containing tooth Source: Ensembl
Osteoblast differentiation Source: BHF-UCL
Outflow tract septum morphogenesis Source: BHF-UCL
Pharyngeal arch artery morphogenesis Source: BHF-UCL
Pituitary gland development Source: Ensembl
Positive regulation of apoptotic process Source: UniProtKB
Positive regulation of BMP signaling pathway Source: UniProtKB
Positive regulation of bone mineralization Source: UniProtKB
Positive regulation of branching involved in lung morphogenesis Source: UniProtKB
Positive regulation of cardiac muscle fiber development Source: BHF-UCL
Positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Source: Ensembl
Positive regulation of cartilage development Source: MGI
Positive regulation of cell death Source: MGI
Positive regulation of cell population proliferation Source: BHF-UCL
Positive regulation of cell proliferation involved in outflow tract morphogenesis Source: BHF-UCL
Positive regulation of collagen biosynthetic process Source: BHF-UCL
Positive regulation of endothelial cell differentiation Source: Ensembl
Positive regulation of endothelial cell migration Source: UniProtKB
Positive regulation of endothelial cell proliferation Source: UniProtKB
Positive regulation of epidermal cell differentiation Source: UniProtKB
Positive regulation of epithelial cell proliferation Source: BHF-UCL
Positive regulation of epithelial to mesenchymal transition Source: Ensembl
Positive regulation of ERK1 and ERK2 cascade Source: Ensembl
Positive regulation of gene expression Source: BHF-UCL
Positive regulation of kidney development Source: UniProtKB
Positive regulation of neuron differentiation Source: Ensembl
Positive regulation of ossification Source: MGI
Positive regulation of osteoblast differentiation Source: BHF-UCL
Positive regulation of pathway-restricted SMAD protein phosphorylation Source: UniProtKB
Positive regulation of production of miRNAs involved in gene silencing by miRNA Source: BHF-UCL
Positive regulation of protein binding Source: MGI
Positive regulation of protein phosphorylation Source: MGI
Positive regulation of SMAD protein signal transduction Source: BHF-UCL
Positive regulation of smooth muscle cell proliferation Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Post-embryonic development Source: MGI
Post-translational protein modification Source: Reactome
Protein localization to nucleus Source: UniProtKB
Pulmonary artery endothelial tube morphogenesis Source: UniProtKB
Pulmonary valve morphogenesis Source: BHF-UCL
Regulation of branching involved in prostate gland morphogenesis Source: Ensembl
Regulation of cell fate commitment Source: UniProtKB
Regulation of odontogenesis of dentin-containing tooth Source: Ensembl
Regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
Regulation of protein import into nucleus Source: MGI
Regulation of smooth muscle cell differentiation Source: Ensembl
Renal system process Source: Ensembl
Secondary heart field specification Source: BHF-UCL
Sinoatrial node development Source: BHF-UCL
SMAD protein signal transduction Source: UniProtKB
Smooth muscle tissue development Source: UniProtKB
Specification of animal organ position Source: Ensembl
Specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway Source: UniProtKB
Steroid hormone mediated signaling pathway Source: UniProtKB
Telencephalon development Source: MGI
Telencephalon regionalization Source: Ensembl
Tendon cell differentiation Source: UniProtKB
Trachea development Source: MGI
Trachea formation Source: Ensembl
Type B pancreatic cell development Source: BHF-UCL
Ureter epithelial cell differentiation Source: UniProtKB
Ureteric bud development Source: MGI
Ureter smooth muscle cell differentiation Source: UniProtKB

Extracellular matrix

Microphthalmia, syndromic, 6 (MCOPS6): A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Non-syndromic orofacial cleft 11 (OFC11): A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.