GENETIC ENCYCLOPEDIA
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gene: BMP2

id650
symbolBMP2
organismHomo sapiens
full namebone morphogenetic protein 2
summaryThis 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]
variant-disease

NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) AND not specified

NM_001200.4(BMP2):c.552G>A (p.Ser184=) AND not specified

GRCh37/hg19 20p12.3(chr20:6296284-7092386)x1 AND See cases

NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) AND not provided

NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) AND SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES

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