CleftGeneDB-Search

Gene: Bmp2

Basic information

Tag	Content
Uniprot ID	P21274; Q497W8;
Entrez ID	12156
Genbank protein ID	AAB05665.1; BAE36612.1; BAE21928.1; AAI00345.1; EDL28371.1;
Genbank nucleotide ID	NM_007553.3
Ensembl protein ID	ENSMUSP00000028836
Ensembl nucleotide ID	ENSMUSG00000027358
Gene name	Bone morphogenetic protein 2
Gene symbol	Bmp2
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage	E12.5, E13.5, E14.5
Data sources	Manually collected
Reference	30413887; 22219353;
Functional description	Induces cartilage and bone formation. 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.
Sequence	MVAGTRCLLV LLLPQVLLGG AAGLIPELGR KKFAAASSRP LSRPSEDVLS EFELRLLSMF 60 GLKQRPTPSK DVVVPPYMLD LYRRHSGQPG APAPDHRLER AASRANTVRS FHHEEAVEEL 120 PEMSGKTARR FFFNLSSVPS DEFLTSAELQ IFREQIQEAL GNSSFQHRIN IYEIIKPAAA 180 NLKFPVTRLL DTRLVNQNTS QWESFDVTPA VMRWTTQGHT NHGFVVEVAH LEENPGVSKR 240 HVRISRSLHQ DEHSWSQIRP LLVTFGHDGK GHPLHKREKR QAKHKQRKRL KSSCKRHPLY 300 VDFSDVGWND WIVAPPGYHA FYCHGECPFP LADHLNSTNH AIVQTLVNSV NSKIPKACCV 360 PTELSAISML YLDENEKVVL KNYQDMVVEG CGCR 394

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 information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	BMP2	615037	A5PJI9			Bos taurus	Prediction	More>>
1:1 ortholog	BMP2	477162	J9P401			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BMP2		A0A452EEC2			Capra hircus	Prediction	More>>
1:1 ortholog	BMP2	650	P12643			Homo sapiens	Prediction	More>>
1:1 ortholog	Bmp2	12156	P21274	CPO	E12.5, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	BMP2	458090	H2QJY1			Pan troglodytes	Prediction	More>>
1:1 ortholog	BMP2	100157103	A0A286ZZE2			Sus scrofa	Prediction	More>>
1:1 ortholog	BMP2		G1T1R1			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bmp2		G3V8W4			Rattus norvegicus	Prediction	More>>
1:1 ortholog	bmp2a		B3DI86			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs243487586	p.Arg213Gln	missense variant	-	NC_000068.7:g.133561168G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004745	retinol dehydrogenase activity	IDA
GO:0005125	cytokine activity	IBA
GO:0005125	cytokine activity	TAS
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	ISO
GO:0019211	phosphatase activator activity	ISO
GO:0019904	protein domain specific binding	ISO
GO:0039706	co-receptor binding	ISO
GO:0042802	identical protein binding	ISO
GO:0046332	SMAD binding	ISO
GO:0070700	BMP receptor binding	IBA
GO:0070700	BMP receptor binding	ISO

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISO
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000187	activation of MAPK activity	ISO
GO:0001649	osteoblast differentiation	ISO
GO:0001649	osteoblast differentiation	IGI
GO:0001649	osteoblast differentiation	IDA
GO:0001658	branching involved in ureteric bud morphogenesis	IGI
GO:0001666	response to hypoxia	IMP
GO:0001701	in utero embryonic development	IMP
GO:0001837	epithelial to mesenchymal transition	ISO
GO:0001934	positive regulation of protein phosphorylation	ISO
GO:0001938	positive regulation of endothelial cell proliferation	ISO
GO:0002062	chondrocyte differentiation	ISO
GO:0003130	BMP signaling pathway involved in heart induction	ISO
GO:0003181	atrioventricular valve morphogenesis	IMP
GO:0003203	endocardial cushion morphogenesis	IMP
GO:0003308	negative regulation of Wnt signaling pathway involved in heart development	ISO
GO:0006029	proteoglycan metabolic process	IGI
GO:0006355	regulation of transcription, DNA-templated	ISO
GO:0006468	protein phosphorylation	ISO
GO:0006954	inflammatory response	IEP
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS
GO:0007219	Notch signaling pathway	IMP
GO:0007507	heart development	IMP
GO:0008285	negative regulation of cell population proliferation	ISO
GO:0008285	negative regulation of cell population proliferation	IGI
GO:0009617	response to bacterium	IEP
GO:0009887	animal organ morphogenesis	IMP
GO:0010628	positive regulation of gene expression	ISO
GO:0010628	positive regulation of gene expression	IDA
GO:0010629	negative regulation of gene expression	ISO
GO:0010629	negative regulation of gene expression	IDA
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISO
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISO
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0010894	negative regulation of steroid biosynthetic process	ISO
GO:0010922	positive regulation of phosphatase activity	ISO
GO:0021537	telencephalon development	ISO
GO:0021978	telencephalon regionalization	IGI
GO:0030177	positive regulation of Wnt signaling pathway	IDA
GO:0030282	bone mineralization	IDA
GO:0030282	bone mineralization	IGI
GO:0030335	positive regulation of cell migration	IMP
GO:0030501	positive regulation of bone mineralization	ISO
GO:0030501	positive regulation of bone mineralization	IDA
GO:0030509	BMP signaling pathway	ISO
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	IGI
GO:0030509	BMP signaling pathway	IBA
GO:0031648	protein destabilization	IDA
GO:0031648	protein destabilization	IGI
GO:0032092	positive regulation of protein binding	ISO
GO:0032348	negative regulation of aldosterone biosynthetic process	ISO
GO:0033690	positive regulation of osteoblast proliferation	IMP
GO:0035051	cardiocyte differentiation	ISO
GO:0035054	embryonic heart tube anterior/posterior pattern specification	IMP
GO:0035630	bone mineralization involved in bone maturation	ISO
GO:0042475	odontogenesis of dentin-containing tooth	IDA
GO:0042482	positive regulation of odontogenesis	IDA
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IGI
GO:0043065	positive regulation of apoptotic process	ISO
GO:0043410	positive regulation of MAPK cascade	ISO
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway	ISO
GO:0045165	cell fate commitment	IMP
GO:0045597	positive regulation of cell differentiation	IDA
GO:0045600	positive regulation of fat cell differentiation	IDA
GO:0045666	positive regulation of neuron differentiation	IDA
GO:0045669	positive regulation of osteoblast differentiation	ISO
GO:0045669	positive regulation of osteoblast differentiation	IDA
GO:0045669	positive regulation of osteoblast differentiation	IMP
GO:0045778	positive regulation of ossification	IDA
GO:0045778	positive regulation of ossification	ISO
GO:0045786	negative regulation of cell cycle	ISO
GO:0045892	negative regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0048711	positive regulation of astrocyte differentiation	IDA
GO:0048711	positive regulation of astrocyte differentiation	IGI
GO:0048762	mesenchymal cell differentiation	ISS
GO:0048762	mesenchymal cell differentiation	ISO
GO:0048839	inner ear development	IDA
GO:0050769	positive regulation of neurogenesis	ISO
GO:0051042	negative regulation of calcium-independent cell-cell adhesion	ISO
GO:0055007	cardiac muscle cell differentiation	ISS
GO:0055007	cardiac muscle cell differentiation	ISO
GO:0055007	cardiac muscle cell differentiation	IGI
GO:0055008	cardiac muscle tissue morphogenesis	IMP
GO:0055114	oxidation-reduction process	IEA
GO:0060039	pericardium development	IMP
GO:0060128	corticotropin hormone secreting cell differentiation	IDA
GO:0060129	thyroid-stimulating hormone-secreting cell differentiation	IDA
GO:0060317	cardiac epithelial to mesenchymal transition	ISO
GO:0060389	pathway-restricted SMAD protein phosphorylation	ISO
GO:0060395	SMAD protein signal transduction	ISS
GO:0060395	SMAD protein signal transduction	ISO
GO:0060395	SMAD protein signal transduction	IBA
GO:0060485	mesenchyme development	ISS
GO:0060485	mesenchyme development	ISO
GO:0060804	positive regulation of Wnt signaling pathway by BMP signaling pathway	IDA
GO:0061036	positive regulation of cartilage development	IDA
GO:0061036	positive regulation of cartilage development	ISO
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISO
GO:0071363	cellular response to growth factor stimulus	IDA
GO:0071407	cellular response to organic cyclic compound	IDA
GO:0071773	cellular response to BMP stimulus	ISO
GO:0072138	mesenchymal cell proliferation involved in ureteric bud development	IMP
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA
GO:1900745	positive regulation of p38MAPK cascade	ISO
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISO
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IGI
GO:2000065	negative regulation of cortisol biosynthetic process	ISO
GO:2000726	negative regulation of cardiac muscle cell differentiation	ISO

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005737	cytoplasm	ISO
GO:0009986	cell surface	ISO
GO:0031982	vesicle	ISO
GO:0032991	protein-containing complex	ISO
GO:0043231	intracellular membrane-bounded organelle	ISO
GO:0070724	BMP receptor complex	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1474244	Extracellular matrix organization	IEA
R-MMU-1566948	Elastic fibre formation	IEA
R-MMU-162582	Signal Transduction	IEA
R-MMU-201451	Signaling by BMP	IEA
R-MMU-2129379	Molecules associated with elastic fibres	IEA
R-MMU-9006936	Signaling by TGF-beta family members	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0891	Chondrogenesis
KW-0165	Cleavage on pair of basic residues
KW-0202	Cytokine
KW-0217	Developmental protein
KW-0221	Differentiation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0892	Osteogenesis
KW-0597	Phosphoprotein
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

Gene: Bmp2

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction