Human Gene BMP2 (ENST00000378827.5) from GENCODE V44
Description: Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. (from RefSeq NM_001200) RefSeq Summary (NM_001200): 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]. Gencode Transcript: ENST00000378827.5 Gencode Gene: ENSG00000125845.7 Transcript (Including UTRs) Position: hg38 chr20:6,767,686-6,780,246 Size: 12,561 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr20:6,770,127-6,779,089 Size: 8,963 Coding Exon Count: 2
ID:BMP2_HUMAN DESCRIPTION: RecName: Full=Bone morphogenetic protein 2; Short=BMP-2; AltName: Full=Bone morphogenetic protein 2A; Short=BMP-2A; Flags: Precursor; FUNCTION: Induces cartilage and bone formation. SUBUNIT: Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN (By similarity). INTERACTION: P36894:BMPR1A; NbExp=2; IntAct=EBI-1029262, EBI-1029237; SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Particularly abundant in lung, spleen and colon and in low but significant levels in heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, ovary and small intestine. PHARMACEUTICAL: Available under the name Infuse (Medtronic Sofamor Danek). Used for treating open tibial shaft fractures. SIMILARITY: Belongs to the TGF-beta family. WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 2 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P12643
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_alkPathway - ALK in cardiac myocytes
Reactome (by CSHL, EBI, and GO)
Protein P12643 (Reactome details) participates in the following event(s):
R-HSA-201457 BMP2 binds to the receptor complex R-HSA-201810 The ligand trap binds the ligand BMP2, blocking BMP signalling R-HSA-2396399 Fibrillins bind BMPs R-HSA-201475 I-Smad competes with R-Smad1/5/8 for type I receptor R-HSA-201648 An anchoring protein, Endofin, recruits R-Smad1/5/8 R-HSA-201821 I-Smad binds to type I receptor, preventing Smad1/5/8 from being activated R-HSA-201443 Type II receptor phosphorylates type I receptor R-HSA-201453 Phospho-R-Smad1/5/8 dissociates from the receptor complex R-HSA-201476 Activated type I receptor phosphorylates R-Smad1/5/8 directly R-HSA-201451 Signaling by BMP R-HSA-2129379 Molecules associated with elastic fibres R-HSA-9006936 Signaling by TGF-beta family members R-HSA-1566948 Elastic fibre formation R-HSA-162582 Signal Transduction R-HSA-1474244 Extracellular matrix organization