Gene: BMP2

Basic information

Tag Content
Uniprot ID P12643
Entrez ID 650
Genbank protein ID AAA51834.1; AAF21646.1;
Genbank nucleotide ID NM_001200.3
Ensembl protein ID ENSP00000368104
Ensembl nucleotide ID ENSG00000125845
Gene name Bone morphogenetic protein 2
Gene symbol BMP2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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).
Sequence
MVAGTRCLLA LLLPQVLLGG AAGLVPELGR RKFAAASSGR PSSQPSDEVL SEFELRLLSM 60
FGLKQRPTPS RDAVVPPYML DLYRRHSGQP GSPAPDHRLE RAASRANTVR SFHHEESLEE 120
LPETSGKTTR RFFFNLSSIP TEEFITSAEL QVFREQMQDA LGNNSSFHHR INIYEIIKPA 180
TANSKFPVTR LLDTRLVNQN ASRWESFDVT PAVMRWTAQG HANHGFVVEV AHLEEKQGVS 240
KRHVRISRSL HQDEHSWSQI RPLLVTFGHD GKGHPLHKRE KRQAKHKQRK RLKSSCKRHP 300
LYVDFSDVGW NDWIVAPPGY HAFYCHGECP FPLADHLNST NHAIVQTLVN SVNSKIPKAC 360
CVPTELSAIS MLYLDENEKV VLKNYQDMVV EGCGCR 396

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologBMP2615037A5PJI9Bos taurusPredictionMore>>
1:1 orthologBMP2477162J9P401Canis lupus familiarisPredictionMore>>
1:1 orthologBMP2A0A452EEC2Capra hircusPredictionMore>>
1:1 orthologBMP2650P12643Homo sapiensPredictionMore>>
1:1 orthologBmp212156P21274CPOE12.5, E13.5, E14.5Mus musculusPublicationMore>>
1:1 orthologBMP2458090H2QJY1Pan troglodytesPredictionMore>>
1:1 orthologBMP2100157103A0A286ZZE2Sus scrofaPredictionMore>>
1:1 orthologBMP2G1T1R1Oryctolagus cuniculusPredictionMore>>
1:1 orthologBmp2G3V8W4Rattus norvegicusPredictionMore>>
1:1 orthologbmp2aB3DI86Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004745 retinol dehydrogenase activityISS
GO:0005102 signaling receptor bindingTAS
GO:0005125 cytokine activityIBA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIEA
GO:0019211 phosphatase activator activityIDA
GO:0039706 co-receptor bindingIPI
GO:0046332 SMAD bindingIDA
GO:0070700 BMP receptor bindingIBA
GO:0070700 BMP receptor bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0000187 activation of MAPK activityIDA
GO:0001501 skeletal system developmentTAS
GO:0001649 osteoblast differentiationIDA
GO:0001658 branching involved in ureteric bud morphogenesisISS
GO:0001666 response to hypoxiaISS
GO:0001701 in utero embryonic developmentISS
GO:0001837 epithelial to mesenchymal transitionIDA
GO:0001934 positive regulation of protein phosphorylationIDA
GO:0001938 positive regulation of endothelial cell proliferationIDA
GO:0002062 chondrocyte differentiationIDA
GO:0003130 BMP signaling pathway involved in heart inductionIDA
GO:0003181 atrioventricular valve morphogenesisISS
GO:0003203 endocardial cushion morphogenesisISS
GO:0003308 negative regulation of Wnt signaling pathway involved in heart developmentIDA
GO:0006029 proteoglycan metabolic processIEA
GO:0006355 regulation of transcription, DNA-templatedIDA
GO:0006468 protein phosphorylationIDA
GO:0006954 inflammatory responseISS
GO:0007219 Notch signaling pathwayISS
GO:0007267 cell-cell signalingTAS
GO:0007507 heart developmentISS
GO:0008285 negative regulation of cell population proliferationIDA
GO:0009617 response to bacteriumIEA
GO:0009887 animal organ morphogenesisISS
GO:0010628 positive regulation of gene expressionIDA
GO:0010628 positive regulation of gene expressionIGI
GO:0010629 negative regulation of gene expressionIDA
GO:0010718 positive regulation of epithelial to mesenchymal transitionIDA
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIDA
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIMP
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIBA
GO:0010894 negative regulation of steroid biosynthetic processIDA
GO:0010922 positive regulation of phosphatase activityIDA
GO:0021537 telencephalon developmentIDA
GO:0021978 telencephalon regionalizationISS
GO:0030177 positive regulation of Wnt signaling pathwayISS
GO:0030282 bone mineralizationISS
GO:0030335 positive regulation of cell migrationISS
GO:0030501 positive regulation of bone mineralizationIDA
GO:0030509 BMP signaling pathwayIDA
GO:0030509 BMP signaling pathwayIEP
GO:0030509 BMP signaling pathwayIMP
GO:0030509 BMP signaling pathwayIBA
GO:0030509 BMP signaling pathwayIGI
GO:0030509 BMP signaling pathwayTAS
GO:0031648 protein destabilizationIEA
GO:0032092 positive regulation of protein bindingIDA
GO:0032348 negative regulation of aldosterone biosynthetic processIDA
GO:0033690 positive regulation of osteoblast proliferationISS
GO:0035051 cardiocyte differentiationIDA
GO:0035051 cardiocyte differentiationIMP
GO:0035054 embryonic heart tube anterior/posterior pattern specificationISS
GO:0035630 bone mineralization involved in bone maturationIDA
GO:0042475 odontogenesis of dentin-containing toothISS
GO:0042482 positive regulation of odontogenesisISS
GO:0042487 regulation of odontogenesis of dentin-containing toothIEA
GO:0043065 positive regulation of apoptotic processIDA
GO:0043410 positive regulation of MAPK cascadeIDA
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathwayIDA
GO:0045165 cell fate commitmentISS
GO:0045600 positive regulation of fat cell differentiationISS
GO:0045666 positive regulation of neuron differentiationISS
GO:0045669 positive regulation of osteoblast differentiationIDA
GO:0045778 positive regulation of ossificationIDA
GO:0045786 negative regulation of cell cycleIDA
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0048711 positive regulation of astrocyte differentiationISS
GO:0048762 mesenchymal cell differentiationIDA
GO:0048839 inner ear developmentISS
GO:0051042 negative regulation of calcium-independent cell-cell adhesionIDA
GO:0055007 cardiac muscle cell differentiationIMP
GO:0055008 cardiac muscle tissue morphogenesisISS
GO:0055114 oxidation-reduction processIEA
GO:0060039 pericardium developmentISS
GO:0060128 corticotropin hormone secreting cell differentiationISS
GO:0060129 thyroid-stimulating hormone-secreting cell differentiationISS
GO:0060317 cardiac epithelial to mesenchymal transitionIDA
GO:0060389 pathway-restricted SMAD protein phosphorylationIDA
GO:0060395 SMAD protein signal transductionIDA
GO:0060395 SMAD protein signal transductionIBA
GO:0060485 mesenchyme developmentIMP
GO:0060804 positive regulation of Wnt signaling pathway by BMP signaling pathwayISS
GO:0061036 positive regulation of cartilage developmentIDA
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIMP
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIDA
GO:0071407 cellular response to organic cyclic compoundIEA
GO:0071773 cellular response to BMP stimulusIMP
GO:0071773 cellular response to BMP stimulusIDA
GO:0072138 mesenchymal cell proliferation involved in ureteric bud developmentISS
GO:0090090 negative regulation of canonical Wnt signaling pathwayIEP
GO:1900745 positive regulation of p38MAPK cascadeIDA
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusIDA
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase IIIEA
GO:2000065 negative regulation of cortisol biosynthetic processIDA
GO:2000726 negative regulation of cardiac muscle cell differentiationIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA
GO:0009986 cell surfaceIDA
GO:0043231 intracellular membrane-bounded organelleIDA
GO:0070724 BMP receptor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1566948 Elastic fibre formationTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-201451 Signaling by BMPTAS
R-HSA-212436 Generic Transcription PathwayIEA
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-2129379 Molecules associated with elastic fibresTAS
R-HSA-73857 RNA Polymerase II TranscriptionIEA
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)IEA
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-8878166 Transcriptional regulation by RUNX2IEA
R-HSA-8878166 Transcriptional regulation by RUNX2TAS
R-HSA-8939902 Regulation of RUNX2 expression and activityIEA
R-HSA-9006936 Signaling by TGF-beta family membersTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0891 Chondrogenesis
KW-0165 Cleavage on pair of basic residues
KW-0202 Cytokine
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0242 Dwarfism
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0892 Osteogenesis
KW-0582 Pharmaceutical
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS

PROSITE

PROSITE ID PROSITE Term
PS00250 TGF_BETA_1
PS51362 TGF_BETA_2

Pfam

Pfam ID Pfam Term
PF00019 TGF_beta
PF00688 TGFb_propeptide

Protein-protein interaction

Protein-miRNA interaction