Aliases for BMP4 Gene
External Ids for BMP4 Gene
Previous HGNC Symbols for BMP4 Gene
Previous GeneCards Identifiers for BMP4 Gene
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]
GeneCards Summary for BMP4 Gene
BMP4 (Bone Morphogenetic Protein 4) is a Protein Coding gene. Diseases associated with BMP4 include Microphthalmia, Syndromic 6 and Orofacial Cleft 11. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP2.
UniProtKB/Swiss-Prot Summary for BMP4 Gene
Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).