BMP2 gene

bone morphogenetic protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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, 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]

From UniProt:

Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451).

From NCBI Gene:

  • Hemochromatosis type 1
  • Brachydactyly type A2

Cytogenetic Location: 20p12, which is the short (p) arm of chromosome 20 at position 12

Molecular Location: base pairs 6,767,700 to 6,780,280 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p12, which is the short (p) arm of chromosome 20 at position 12
  • BDA2
  • BMP2A