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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
p12.3
Chromosome location (bp)
6767686 - 6780246
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis 1,2,3. Induces cartilage and bone formation 4. Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 5,6,7. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A 8. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation 9,10. Stimulates also the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation 11....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cytokine, Developmental protein, Growth factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Chondrogenesis, Differentiation, Osteogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P12643 [Direct mapping] Bone morphogenetic protein 2
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C8C060 [Target identity:100%; Query identity:100%] Bone morphogenetic protein 2
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TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001501[skeletal system development] GO:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0001837[epithelial to mesenchymal transition] GO:0001934[positive regulation of protein phosphorylation] GO:0001938[positive regulation of endothelial cell proliferation] GO:0002062[chondrocyte differentiation] GO:0003130[BMP signaling pathway involved in heart induction] GO:0003176[aortic valve development] GO:0003181[atrioventricular valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003210[cardiac atrium formation] GO:0003272[endocardial cushion formation] GO:0003308[negative regulation of Wnt signaling pathway involved in heart development] GO:0003331[positive regulation of extracellular matrix constituent secretion] GO:0005102[signaling receptor binding] GO:0005125[cytokine activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005886[plasma membrane] GO:0006029[proteoglycan metabolic process] GO:0006355[regulation of DNA-templated transcription] GO:0006366[transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0006954[inflammatory response] GO:0007219[Notch signaling pathway] GO:0007267[cell-cell signaling] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009617[response to bacterium] GO:0009887[animal organ morphogenesis] GO:0009986[cell surface] GO:0010467[gene expression] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0010894[negative regulation of steroid biosynthetic process] GO:0010922[positive regulation of phosphatase activity] GO:0016055[Wnt signaling pathway] GO:0019211[phosphatase activator activity] GO:0021537[telencephalon development] GO:0021978[telencephalon regionalization] GO:0030154[cell differentiation] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030282[bone mineralization] GO:0030316[osteoclast differentiation] GO:0030335[positive regulation of cell migration] GO:0030501[positive regulation of bone mineralization] GO:0030509[BMP signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030858[positive regulation of epithelial cell differentiation] GO:0031648[protein destabilization] GO:0032092[positive regulation of protein binding] GO:0032348[negative regulation of aldosterone biosynthetic process] GO:0033690[positive regulation of osteoblast proliferation] GO:0035051[cardiocyte differentiation] GO:0035054[embryonic heart tube anterior/posterior pattern specification] GO:0035360[positive regulation of peroxisome proliferator activated receptor signaling pathway] GO:0036305[ameloblast differentiation] GO:0039706[co-receptor binding] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042482[positive regulation of odontogenesis] GO:0042487[regulation of odontogenesis of dentin-containing tooth] GO:0043065[positive regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043407[negative regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043539[protein serine/threonine kinase activator activity] GO:0043569[negative regulation of insulin-like growth factor receptor signaling pathway] GO:0045165[cell fate commitment] GO:0045599[negative regulation of fat cell differentiation] GO:0045600[positive regulation of fat cell differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045669[positive regulation of osteoblast differentiation] GO:0045778[positive regulation of ossification] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0048018[receptor ligand activity] GO:0048662[negative regulation of smooth muscle cell proliferation] GO:0048708[astrocyte differentiation] GO:0048711[positive regulation of astrocyte differentiation] GO:0048762[mesenchymal cell differentiation] GO:0048839[inner ear development] GO:0051042[negative regulation of calcium-independent cell-cell adhesion] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051148[negative regulation of muscle cell differentiation] GO:0051216[cartilage development] GO:0055007[cardiac muscle cell differentiation] GO:0055008[cardiac muscle tissue morphogenesis] GO:0060039[pericardium development] GO:0060128[corticotropin hormone secreting cell differentiation] GO:0060129[thyroid-stimulating hormone-secreting cell differentiation] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060348[bone development] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060395[SMAD protein signal transduction] GO:0060485[mesenchyme development] GO:0060804[positive regulation of Wnt signaling pathway by BMP signaling pathway] GO:0061036[positive regulation of cartilage development] GO:0061312[BMP signaling pathway involved in heart development] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070700[BMP receptor binding] GO:0070724[BMP receptor complex] GO:0071363[cellular response to growth factor stimulus] GO:0071407[cellular response to organic cyclic compound] GO:0071773[cellular response to BMP stimulus] GO:0072138[mesenchymal cell proliferation involved in ureteric bud development] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0140537[transcription regulator activator activity] GO:1900159[positive regulation of bone mineralization involved in bone maturation] GO:1900745[positive regulation of p38MAPK cascade] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1902895[positive regulation of miRNA transcription] GO:1905072[cardiac jelly development] GO:1905222[atrioventricular canal morphogenesis] GO:2000065[negative regulation of cortisol biosynthetic process] GO:2000726[negative regulation of cardiac muscle cell differentiation]