Entity Details

Primary name BMP2
Entity type gene
Source Source Link

Details

PrimaryID650
RefseqGeneNG_023233
SymbolBMP2
Namebone morphogenetic protein 2
Chromosome20
Location20p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-16
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsBMP2_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000187 obsolete activation of MAPK activity
GO:0001501 skeletal system development
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:0005576 extracellular region
GO:0005615 extracellular space
GO:0006029 proteoglycan metabolic process
GO:0006355 regulation of transcription, DNA-templated
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:0008285 negative regulation of cell population proliferation
GO:0009617 response to bacterium
GO:0009887 animal organ morphogenesis
GO:0009986 cell surface
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:0019211 phosphatase activator activity
GO:0021537 telencephalon development
GO:0021978 telencephalon regionalization
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030282 bone mineralization
GO:0030335 positive regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
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:0035630 bone mineralization involved in bone maturation
GO:0038098 sequestering of BMP from receptor via BMP binding
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:0043410 positive regulation of MAPK cascade
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway
GO:0045165 cell fate commitment
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 transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046332 SMAD binding
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: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:0060389 pathway-restricted SMAD protein phosphorylation
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: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: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 pri-miRNA transcription by RNA polymerase II
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

Diseases

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Disease IDSourceNameDescription
617877 OMIMShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (SSFSC)An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. The disease is caused by variants affecting the gene represented in this entry.
112600 OMIMBrachydactyly A2 (BDA2)A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. The gene represented in this entry is involved in disease pathogenesis. Duplications of a cis-regulatory element located approximately 110 kb downstream of BMP2 have been found in BDA2 families. They likely cause altered BMP2 expression with pathological consequences.