BMP4

Description

The BMP4 (bone morphogenetic protein 4) is a protein-coding gene located on chromosome 14.

Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene. BMP4 is found on chromosome 14q22-q23. BMP4 is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. BMP4 is highly conserved evolutionarily. BMP4 is found in early embryonic development in the ventral marginal zone and in the eye, heart blood and otic vesicle.

== Discovery == Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site.

== Function == BMP4 is a polypeptide belonging to the TGF-β superfamily of proteins. It, like other bone morphogenetic proteins, is involved in bone and cartilage development, specifically tooth and limb development and fracture repair. This particular family member plays an important role in the onset of endochondral bone formation in humans.

BMP4, also known as Bone morphogenetic protein 2B, is a growth factor belonging to the TGF-beta superfamily. It plays crucial roles in various developmental processes, including neurogenesis, vascular development, angiogenesis, and osteogenesis. BMP4 works together with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and inhibit hair follicle induction. It initiates the canonical BMP signaling cascade by binding to type I receptor BMPR1A and type II receptor BMPR2. This binding triggers BMPR2 to phosphorylate and activate BMPR1A. Subsequently, BMPR1A propagates the signal by phosphorylating SMAD1/5/8, which then translocate to the nucleus, acting as activators and repressors of target gene transcription. BMP4 positively regulates the expression of the odontogenic development regulator MSX1 by inducing the IPO7-mediated import of SMAD1 into the nucleus. It is essential for MSX1-mediated mesenchymal molar tooth bud development beyond the bud stage, facilitating Wnt signaling. BMP4 acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation but its expression is repressed during the bell stage due to MSX1-mediated inhibition of CTNNB1 signaling. BMP4 can induce its own expression in dental mesenchymal cells and neighboring dental epithelial cells via an MSX1-mediated pathway. BMP4 can also signal through non-canonical BMP pathways such as ERK/MAP kinase, PI3K/Akt, or SRC cascades. For example, BMP4 induces SRC phosphorylation which, in turn, activates VEGFR2, leading to an angiogenic response.

BMP4 is also known as BMP2B, BMP2B1, MCOPS6, OFC11, ZYME.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing