Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	650
Gene name	Bone morphogenetic protein 2
Gene symbol	BMP2
Synonyms (NCBI Gene)	BDA2BMP2ASSFSCSSFSC1
Chromosome	20
Chromosome location	20p12.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs147542801	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149465465	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057523275	C>T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1197846053	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555785715	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555786145	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555786156	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600170070	AG>CC	Pathogenic	Splice acceptor variant
rs1600173184	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600173481	G>A	Likely-pathogenic	Stop gained, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017583	hsa-miR-335-5p	Microarray	18185580
MIRT029250	hsa-miR-26b-5p	Microarray	19088304
MIRT053202	hsa-miR-17-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23399447
MIRT053203	hsa-miR-106a-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23399447
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT524751	hsa-miR-3924	HITS-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	HITS-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT524751	hsa-miR-3924	HITS-CLIP	23313552
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT524751	hsa-miR-3924	PAR-CLIP	20371350
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT524751	hsa-miR-3924	PAR-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT524749	hsa-miR-4263	PAR-CLIP	21572407
MIRT524748	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT524751	hsa-miR-3924	PAR-CLIP	23446348
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	23446348
MIRT524749	hsa-miR-4263	PAR-CLIP	23446348
MIRT524748	hsa-miR-576-5p	PAR-CLIP	23446348
MIRT480789	hsa-miR-505-3p	PAR-CLIP	23592263
MIRT480788	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480787	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT053203	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT053202	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480785	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480784	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480783	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480782	hsa-miR-3609	PAR-CLIP	23592263
MIRT480781	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT480780	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT480779	hsa-miR-3153	PAR-CLIP	23592263
MIRT480778	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480777	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480776	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT480775	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT480774	hsa-miR-4651	PAR-CLIP	23592263
MIRT480773	hsa-miR-608	PAR-CLIP	23592263
MIRT480772	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT480771	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT480769	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT480770	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT480768	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT480767	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT480766	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT480765	hsa-miR-4463	PAR-CLIP	23592263
MIRT732644	hsa-miR-140-5p	ImmunofluorescenceLuciferase reporter assayRNA-seqqRT-PCRWestern blotting	33425897
MIRT733082	hsa-miR-223-3p	qRT-PCR	32850849
MIRT733083	hsa-miR-191-5p	qRT-PCR	32850849
MIRT733084	hsa-miR-191-5p	qRT-PCR	32850849
MIRT733329	hsa-let-7a-5p	Luciferase reporter assayWestern blotting	34228237
MIRT733520	hsa-miR-628-5p	MicroarrayqRT-PCRWestern blotting	34152611
MIRT733826	hsa-miR-31-3p	qRT-PCR	33828198
MIRT733830	hsa-miR-106a-3p	qRT-PCR	33828198
MIRT735035	hsa-miR-654-5p	Luciferase reporter assayWestern blottingMicroarrayqRT-PCR	32898999
MIRT735181	hsa-miR-206	Immunohistochemistry (IHC)qRT-PCRIn situ hybridization	32722078
MIRT735609	hsa-miR-370-3p	RNA-seqqRT-PCR	32065449
MIRT736528	hsa-miR-142-3p	RNA-seqELISA	32989384
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT524751	hsa-miR-3924	HITS-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	HITS-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT524751	hsa-miR-3924	HITS-CLIP	23313552
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT524751	hsa-miR-3924	PAR-CLIP	20371350
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT524751	hsa-miR-3924	PAR-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT524749	hsa-miR-4263	PAR-CLIP	21572407
MIRT524748	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT524751	hsa-miR-3924	PAR-CLIP	23446348
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	23446348
MIRT524749	hsa-miR-4263	PAR-CLIP	23446348
MIRT524748	hsa-miR-576-5p	PAR-CLIP	23446348
MIRT480789	hsa-miR-505-3p	PAR-CLIP	23592263
MIRT480788	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480787	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT053203	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT053202	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480785	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480784	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480783	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480782	hsa-miR-3609	PAR-CLIP	23592263
MIRT480781	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT480780	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT480779	hsa-miR-3153	PAR-CLIP	23592263
MIRT480778	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480777	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480776	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT480775	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT480774	hsa-miR-4651	PAR-CLIP	23592263
MIRT480773	hsa-miR-608	PAR-CLIP	23592263
MIRT480772	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT480771	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT480769	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT480770	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT480768	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT480767	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT480766	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT480765	hsa-miR-4463	PAR-CLIP	23592263
MIRT756443	hsa-miR-513a-3p	Luciferase reporter assayWestern blottingqRT-PCR	37118847
MIRT822343	hsa-let-7a	CLIP-seq
MIRT822344	hsa-let-7b	CLIP-seq
MIRT822345	hsa-let-7c	CLIP-seq
MIRT822346	hsa-let-7d	CLIP-seq
MIRT822347	hsa-let-7e	CLIP-seq
MIRT822348	hsa-let-7f	CLIP-seq
MIRT822349	hsa-let-7g	CLIP-seq
MIRT822350	hsa-let-7i	CLIP-seq
MIRT822351	hsa-miR-1245b-3p	CLIP-seq
MIRT822352	hsa-miR-1276	CLIP-seq
MIRT822353	hsa-miR-129-5p	CLIP-seq
MIRT822354	hsa-miR-1299	CLIP-seq
MIRT822355	hsa-miR-202	CLIP-seq
MIRT822356	hsa-miR-3170	CLIP-seq
MIRT822357	hsa-miR-3545-3p	CLIP-seq
MIRT822358	hsa-miR-3611	CLIP-seq
MIRT822359	hsa-miR-378	CLIP-seq
MIRT822360	hsa-miR-378b	CLIP-seq
MIRT822361	hsa-miR-378c	CLIP-seq
MIRT822362	hsa-miR-378d	CLIP-seq
MIRT822363	hsa-miR-378e	CLIP-seq
MIRT822364	hsa-miR-378f	CLIP-seq
MIRT822365	hsa-miR-378h	CLIP-seq
MIRT822366	hsa-miR-378i	CLIP-seq
MIRT822367	hsa-miR-422a	CLIP-seq
MIRT822368	hsa-miR-4311	CLIP-seq
MIRT822369	hsa-miR-4330	CLIP-seq
MIRT822370	hsa-miR-4458	CLIP-seq
MIRT822371	hsa-miR-4500	CLIP-seq
MIRT822372	hsa-miR-4638-3p	CLIP-seq
MIRT822373	hsa-miR-4680-5p	CLIP-seq
MIRT822374	hsa-miR-4782-5p	CLIP-seq
MIRT822375	hsa-miR-516b	CLIP-seq
MIRT822376	hsa-miR-583	CLIP-seq
MIRT822377	hsa-miR-98	CLIP-seq
MIRT1943038	hsa-miR-329	CLIP-seq
MIRT1943039	hsa-miR-3607-5p	CLIP-seq
MIRT1943040	hsa-miR-362-3p	CLIP-seq
MIRT1943041	hsa-miR-3941	CLIP-seq
MIRT1943042	hsa-miR-4731-5p	CLIP-seq
MIRT1943043	hsa-miR-570	CLIP-seq
MIRT1943044	hsa-miR-603	CLIP-seq
MIRT2485476	hsa-miR-3148	CLIP-seq
MIRT2485477	hsa-miR-3647-3p	CLIP-seq
MIRT2485478	hsa-miR-3682-5p	CLIP-seq
MIRT2485479	hsa-miR-3685	CLIP-seq
MIRT2485480	hsa-miR-369-3p	CLIP-seq
MIRT2485481	hsa-miR-374a	CLIP-seq
MIRT2485482	hsa-miR-374b	CLIP-seq
MIRT2485483	hsa-miR-384	CLIP-seq
MIRT2485484	hsa-miR-3978	CLIP-seq
MIRT2485485	hsa-miR-4796-3p	CLIP-seq
MIRT2485486	hsa-miR-548t	CLIP-seq
MIRT1943043	hsa-miR-570	CLIP-seq
MIRT2485487	hsa-miR-633	CLIP-seq
MIRT2485476	hsa-miR-3148	CLIP-seq
MIRT2485477	hsa-miR-3647-3p	CLIP-seq
MIRT2485478	hsa-miR-3682-5p	CLIP-seq
MIRT2485484	hsa-miR-3978	CLIP-seq
MIRT1943043	hsa-miR-570	CLIP-seq

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Transcription factor	Regulation	Reference
DNMT1	Repression	21551187
HEY1	Repression	21945409
NFKB1	Activation	16835229
RELA	Activation	16835229

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19736317
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9187146
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001501	Process	Skeletal system development	TAS	2315314
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	15150273, 22705305
GO:0001649	Process	Osteoblast differentiation	IDA	15254224, 18436533, 20576608, 23399447
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	15110716
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	18184661
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	17472960
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	8653785
GO:0002062	Process	Chondrocyte differentiation	IDA	16194878
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003129	Process	Heart induction	IDA	19736317
GO:0003129	Process	Heart induction	IEA
GO:0003133	Process	Endodermal-mesodermal cell signaling	IDA	19736317
GO:0003176	Process	Aortic valve development	IEA
GO:0003176	Process	Aortic valve development	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003210	Process	Cardiac atrium formation	IEA
GO:0003210	Process	Cardiac atrium formation	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0003331	Process	Positive regulation of extracellular matrix constituent secretion	IEA
GO:0003331	Process	Positive regulation of extracellular matrix constituent secretion	ISS
GO:0005102	Function	Signaling receptor binding	TAS	2315314
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	IMP	27860183
GO:0005125	Function	Cytokine activity	ISS
GO:0005515	Function	Protein binding	IPI	8413626, 8752214, 10881198, 15064755, 16672363, 16771708, 17240342, 18335997, 18339631, 18586671, 19229295, 19804412, 20505824, 20860622, 21054789, 25938661, 31800957, 33308444
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	22227436
GO:0005615	Component	Extracellular space	IDA	16604073
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	15671031
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007267	Process	Cell-cell signaling	TAS	2315314
GO:0007507	Process	Heart development	IDA	18545679
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008083	Function	Growth factor activity	IDA	22227436
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	24778011
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9187146
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	19584291
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009986	Component	Cell surface	IDA	22227436
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18382765
GO:0010628	Process	Positive regulation of gene expression	IDA	16243309, 22579779, 28124060, 28467929
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IGI	22450430
GO:0010628	Process	Positive regulation of gene expression	IMP	23399447, 27860183
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	23399447
GO:0010629	Process	Negative regulation of gene expression	IDA	28124060
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	20890042
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	19584291
GO:0010922	Process	Positive regulation of phosphatase activity	IDA	9213002
GO:0019211	Function	Phosphatase activator activity	IDA	9213002
GO:0021537	Process	Telencephalon development	IDA	9187146
GO:0021537	Process	Telencephalon development	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021978	Process	Telencephalon regionalization	ISS
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030282	Process	Bone mineralization	IEA
GO:0030282	Process	Bone mineralization	ISS
GO:0030316	Process	Osteoclast differentiation	IMP	27860183
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0030501	Process	Positive regulation of bone mineralization	IDA	18436533, 20576608
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 9389648
GO:0030509	Process	BMP signaling pathway	IDA	16049014, 16771708, 18184661, 18382765, 18436533, 19736317, 20427544, 20843790
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEP	16194878
GO:0030509	Process	BMP signaling pathway	IGI	22450430
GO:0030509	Process	BMP signaling pathway	IMP	17472960
GO:0030509	Process	BMP signaling pathway	IMP	17992660, 18326817, 19664780, 24778011, 27860183
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IGI	28467929
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0031648	Process	Protein destabilization	IEA
GO:0032348	Process	Negative regulation of aldosterone biosynthetic process	IDA	19584291
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	ISS
GO:0035051	Process	Cardiocyte differentiation	IDA	15110716
GO:0035051	Process	Cardiocyte differentiation	IMP	19736317
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	IEA
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	ISS
GO:0035360	Process	Positive regulation of peroxisome proliferator activated receptor signaling pathway	IGI	28467929
GO:0036305	Process	Ameloblast differentiation	IEA
GO:0039706	Function	Co-receptor binding	IEA
GO:0039706	Function	Co-receptor binding	IPI	16604073, 18335997
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042482	Process	Positive regulation of odontogenesis	IEA
GO:0042482	Process	Positive regulation of odontogenesis	ISS
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	9187146
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	22540193
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	22227436
GO:0043539	Function	Protein serine/threonine kinase activator activity	IEA
GO:0043569	Process	Negative regulation of insulin-like growth factor receptor signaling pathway	IDA	19584291
GO:0045165	Process	Cell fate commitment	IEA
GO:0045165	Process	Cell fate commitment	ISS
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	23399447
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045778	Process	Positive regulation of ossification	IDA	9213002
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045786	Process	Negative regulation of cell cycle	IDA	11502704
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15254224
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014, 16243309
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9187146
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16433617, 16604073, 19736317, 20843790, 20890042
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	18326817
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IDA	18382765
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IGI	28467929
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	ISS
GO:0048762	Process	Mesenchymal cell differentiation	IDA	9693150
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0051042	Process	Negative regulation of calcium-independent cell-cell adhesion	IDA	16194878
GO:0051148	Process	Negative regulation of muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IMP	21311046
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060039	Process	Pericardium development	IEA
GO:0060039	Process	Pericardium development	ISS
GO:0060128	Process	Corticotropin hormone secreting cell differentiation	IEA
GO:0060128	Process	Corticotropin hormone secreting cell differentiation	ISS
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	ISS
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IDA	18184661
GO:0060348	Process	Bone development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	18382765
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014, 18184661, 20427544
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	17992660, 19664780, 24778011
GO:0060426	Process	Lung vasculature development	IEA
GO:0060426	Process	Lung vasculature development	IMP	17992660
GO:0060485	Process	Mesenchyme development	IMP	20890042
GO:0060537	Process	Muscle tissue development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IDA	3201241
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22540193
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	19664780
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0070700	Function	BMP receptor binding	IEA
GO:0070700	Function	BMP receptor binding	IPI	18184661
GO:0070724	Component	BMP receptor complex	IDA	16604073
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0072138	Process	Mesenchymal cell proliferation involved in ureteric bud development	IEA
GO:0072138	Process	Mesenchymal cell proliferation involved in ureteric bud development	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18545679
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEP	17202865
GO:0150005	Component	Enzyme activator complex	IDA	31800957
GO:1900159	Process	Positive regulation of bone mineralization involved in bone maturation	IDA	16433617
GO:1900745	Process	Positive regulation of p38MAPK cascade	IDA	22540193
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	ISS
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1905072	Process	Cardiac jelly development	IEA
GO:1905072	Process	Cardiac jelly development	ISS
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS
GO:2000065	Process	Negative regulation of cortisol biosynthetic process	IDA	19584291
GO:2000725	Process	Regulation of cardiac muscle cell differentiation	IEA
GO:2000726	Process	Negative regulation of cardiac muscle cell differentiation	IDA	18545679

MIM	HGNC	e!Ensembl
112261	1069	ENSG00000125845

P12643

Protein name

Bone morphogenetic protein 2 (BMP-2) (Bone morphogenetic protein 2A) (BMP-2A)

Protein function

Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:24362451, PubMed:31019025). Induces cartilage and bone formati

PDB

1ES7 , 1REU , 1REW , 2GOO , 2H62 , 2H64 , 2QJ9 , 2QJA , 2QJB , 3BK3 , 3BMP , 4MID , 4N1D , 4UHY , 4UHZ , 4UI0 , 4UI1 , 4UI2 , 6OMN , 7AG0 , 8E3G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	35 → 267	TGF-beta propeptide	Family
PF00019	TGF_beta	295 → 395	Transforming growth factor beta like domain	Domain

Tissue specificity

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.

Sequence

MVAGTRCLLALLLPQVLLGGAAGLVPELGRRKFAAASSGRPSSQPSDEVLSEFELRLLSM
FGLKQRPTPSRDAVVPPYMLDLYRRHSGQPGSPAPDHRLERAASRANTVRSFHHEESLEE
LPETSGKTTRRFFFNLSSIPTEEFITSAELQVFREQMQDALGNNSSFHHRINIYEIIKPA
TANSKFPVTRLLDTRLVNQNASRWESFDVTPAVMRWTAQGHANHGFVVEVAHLEEKQGVS
KRHVRISRSLHQDEHSWSQIRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHP
LYVDFSDVGWNDWIVAPPGYHAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKAC
CVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR

Sequence length

396

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway Pathways in cancer Basal cell carcinoma		Signaling by BMP Molecules associated with elastic fibres Transcriptional regulation by RUNX2

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial septal defect 1	Pathogenic	rs2514427148	RCV002280334
BMP2-related disorder	Likely pathogenic	rs2514427113, rs2514530688	RCV003420900 RCV003899094
Dextro-looped transposition of the great arteries	Pathogenic	rs2514427047	RCV002280333
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	Pathogenic; Likely pathogenic	rs2514426566, rs1057523275, rs1555785715, rs1555786156, rs1600173184, rs1600173481	RCV005863787 RCV000755726 RCV000584741 RCV000584742 RCV001007950 RCV001027857
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Likely pathogenic; Pathogenic	rs1236079340, rs886043711, rs2514426253, rs2514530484, rs1555785715, rs1555786145, rs1600170070, rs1555786156, rs1600173184	RCV002273175 RCV003140409 RCV003236653 RCV003318323 RCV001800810 RCV001800811 RCV001800812 RCV001800813 RCV004594239
Type A2 brachydactyly	Pathogenic	rs2514426566	RCV005863787
Ventricular septal defect 1	Pathogenic	rs2514427081	RCV003485931

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs7270163	RCV005915226
Craniosynostosis 7	risk factor	rs1884302	RCV000490626
Gastric cancer	Benign	rs7270163	RCV005915223
Hearing impairment	Uncertain significance	rs773113395	RCV000754562
Lung cancer	confers sensitivity	rs235756	RCV001528157
PDA1	Uncertain significance	rs2514426738	RCV002280332
Thymoma	Benign	rs7270163	RCV005915225
Uterine carcinosarcoma	Benign	rs7270163	RCV005915224
Uterine corpus endometrial carcinoma	Benign	rs7270163	RCV005915227

Show/Hide Text Mining Associations (182)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achondrogenesis type 2	Stimulate	32790806
Acute Kidney Injury	Stimulate	22496405
Adenoameloblastoma	Associate	27780042
Adenocarcinoma	Associate	25924783
Adenocarcinoma of Lung	Inhibit	23298487, 34036102
Adenocarcinoma of Lung	Associate	25924783
Adenoma	Associate	20949628
Alagille Syndrome	Associate	21671386
Ameloblastoma	Associate	18854600, 27780042
Anemia	Associate	20679527
Aneurysm Ascending Aorta	Associate	33247540
Anodontia	Associate	27362534
Anterior Cruciate Ligament Injuries	Associate	27208419
Aortic Valve Calcification of	Associate	33757126
Aortic Valve Stenosis	Associate	34494136
Arthritis Psoriatic	Associate	14558086
Arthritis Rheumatoid	Associate	14558086, 26215036, 31178673
Ataxia Telangiectasia	Associate	23564641
Atherosclerosis	Stimulate	30102472
Atherosclerosis	Associate	30713213, 37629118
Barrett Esophagus	Associate	32968094
Bicuspid Aortic Valve Disease	Associate	33247540
Bone Diseases	Associate	16753015, 18389292, 23927997, 30563251
Brachydactyly type A2	Associate	24710560
Breast Neoplasms	Associate	10815762, 12072396, 24337772, 25070479, 25601208, 27740625, 27806311, 34983451
Breast Neoplasms	Inhibit	10903423
Calcinosis	Associate	16505034, 18179800, 20845893, 21278777, 21531376, 21907184, 22874762, 23316327, 24758513, 25275309, 26555788, 28134597, 29361851, 31090495, 32498363, 34954251, 34980138, 35955575 View all (3 more)
Calcinosis	Stimulate	27983534, 34983451
Carcinogenesis	Associate	18446370
Carcinoma Basal Cell	Associate	17003113
Carcinoma Hepatocellular	Associate	18326817, 22799302
Carcinoma Hepatocellular	Inhibit	24573607
Carcinoma Non Small Cell Lung	Associate	21515830, 23593444, 34394080
Carcinoma Non Small Cell Lung	Stimulate	24946687
Carcinoma Ovarian Epithelial	Associate	16421595, 20587070
Carcinoma Ovarian Epithelial	Stimulate	34110955
Carcinoma Pancreatic Ductal	Associate	17876328
Carcinoma Renal Cell	Associate	22496405, 25797254
Cartilage Diseases	Associate	12681954, 26123554, 35313742
Cholesteatoma	Associate	23927997
Chondroblastoma	Stimulate	23760978
Chondrocalcinosis	Associate	28377507
Chorioamnionitis	Stimulate	16157126
Cleft Lip	Associate	24589633
Cleft Palate	Associate	21671386, 22965927, 24589633, 31262291
Colitis Associated Neoplasms	Associate	35733095
Colitis Ulcerative	Associate	35733095
Colorectal Neoplasms	Associate	16769811, 20949628, 21387313, 21655089, 22367214, 26124007, 27107574, 29297384, 29986714, 31137244, 33078631, 34959120, 36657129
Congenital Abnormalities	Associate	36849876
Craniopharyngioma	Stimulate	27983534
Craniopharyngioma	Associate	34980138
Craniosynostoses	Associate	23160099, 26910679, 27606499, 35627201
Crohn Disease	Associate	29375051
Cytokine Release Syndrome	Stimulate	14558086
Deafness oligodontia syndrome	Associate	23079991
Delayed Graft Function	Stimulate	22496405
Dental Plaque	Associate	36581839
Depressive Disorder	Associate	34341332
Developmental Disabilities	Associate	22965927, 36849876
Diabetes Mellitus	Associate	31090495
Diabetes Mellitus	Stimulate	34494136
Diabetes Mellitus Type 2	Stimulate	27515773, 30102472, 34494136
digital ulcers	Associate	24710560
Drug Related Side Effects and Adverse Reactions	Associate	24778011
Dysgerminoma	Associate	16110260
Endometrial Hyperplasia	Associate	34517088
Endometrial Neoplasms	Associate	24077349, 34360647
Esophageal Squamous Cell Carcinoma	Associate	33650665
Extranodal Extension	Stimulate	32126555
Failure to Thrive	Associate	22965927
Familial Primary Pulmonary Hypertension	Associate	16368652
Fractures Bone	Associate	22958403, 25152406, 33034913
Fused Kidney	Associate	33030503
Genetic Diseases Inborn	Associate	33247540
Giant Cell Tumors	Associate	19528484
Glaucoma	Associate	30677397
Glioblastoma	Associate	19587783, 20617365
Glioma	Associate	18492260, 25099618, 33116227, 39373720
Glioma	Inhibit	36647967
Glomerulosclerosis Focal Segmental	Associate	35306494
Growth Disorders	Associate	33247540
Heart Defects Congenital	Associate	33247540
Heart Valve Diseases	Associate	28377507
HEM dysplasia	Associate	24559391
Hemochromatosis	Associate	17847004
Hereditary Breast and Ovarian Cancer Syndrome	Associate	34983451
Hirschsprung Disease	Associate	24551273
Hypertension	Associate	29390526
Hypertension Pulmonary	Associate	12740218
Hypertrophy	Associate	32790806
Hypoxia Brain	Stimulate	38129425
Inflammation	Associate	16973825, 23115640, 35491409
Inflammation	Stimulate	26916040, 30102472, 33030503
Internal Hernia	Associate	33410269
Intervertebral Disc Degeneration	Associate	33677096
Intervertebral disc disease	Associate	29361851, 33677096
Iron Deficiencies	Associate	34780475
Joint Instability	Associate	35896673
Juvenile polyposis syndrome	Associate	20949628
Kashin Beck Disease	Associate	35313742
Labor Pain	Stimulate	16157126
Laryngeal Neoplasms	Associate	37875354
Leiomyoma	Associate	21084396, 25596622
Leukemia	Associate	24100446
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	24100446
Leukemia Myeloid Acute	Associate	30262802
Leukemia Myeloid Chronic Phase	Associate	24100446
Liver Failure	Associate	25805936
Loeys Dietz Syndrome	Associate	25116393
Ludwig's Angina	Associate	15334463
Lumbar Stenosis Familial	Associate	34751419
Lung Neoplasms	Associate	16380505, 23298487, 24778011, 24946687
Lupus Erythematosus Systemic	Associate	22897816
Lymphatic Metastasis	Stimulate	24946687
Mandibular Injuries	Associate	27362534
Melanoma	Associate	16645588
Melanoma	Inhibit	28704392
Monckeberg Medial Calcific Sclerosis	Associate	31090495
Mouth Diseases	Associate	9042799
Mouth Neoplasms	Associate	37590989
Multiple Myeloma	Associate	10979940, 20679527, 36717825
Multiple Sclerosis	Associate	30553833
Muscular Dystrophy Duchenne	Associate	16753015, 17002564
Musculoskeletal Abnormalities	Associate	33247540
Myocardial Ischemia	Associate	33546766
Myopia	Associate	19927351
Myositis Ossificans	Associate	31745065, 9042799
Nasopharyngeal Carcinoma	Associate	28455969
Neointima	Associate	2004778
Neoplasm Metastasis	Stimulate	16380505, 28455969
Neoplasm Metastasis	Associate	20865693, 25448881, 26124007
Neoplasms	Associate	11986346, 15579438, 16380505, 18160401, 18446370, 21737876, 22652796, 24077349, 24100446, 24758513, 24946687, 25271422, 25448881, 27107574, 28035402 View all (5 more)
Neoplasms	Inhibit	23298487, 25391427, 35733095, 35856444
Neoplasms	Stimulate	25601208, 26621735
Neurodegenerative Diseases	Associate	33677096
Neurofibrosarcoma	Associate	23423222, 27494873
Neurologic Manifestations	Associate	21671386
Nevus Epithelioid and Spindle Cell	Associate	32431053
Obesity	Associate	27515773
Obstetric Labor Premature	Stimulate	16157126
Oculocutaneous albinism type 2	Associate	29339669
Ossification Heterotopic	Associate	18389292, 36803548
Ossification of Posterior Longitudinal Ligament	Associate	18389292, 24737472
Ossification of the posterior longitudinal ligament of the spine	Associate	18389292, 27246988
Osteoarthritis	Associate	12681954, 15334463, 18389292, 19404930, 22513174, 23671648, 25430712, 26071314, 26395178, 26636769, 27208419, 32329819, 35313742, 35896673
Osteoarthritis	Inhibit	26123554, 29429984
Osteogenesis Imperfecta	Stimulate	33410269
Osteonecrosis	Associate	19330390
Osteophyte	Associate	12681954
Osteoporosis	Associate	14691541, 16753015, 17002564, 18389292, 32329818, 32967078
Osteoporotic Fractures	Associate	14691541, 25152406
Osteosarcoma	Associate	25391427, 35806417
Osteosarcoma	Stimulate	33034913
Otosclerosis	Associate	18021008
Ovarian Neoplasms	Associate	20587070, 26621735, 34517088
Pancreatic Neoplasms	Associate	19056927, 20848249, 22652796, 29157747, 38059889
Peri Implantitis	Associate	33065511
Peripheral Arterial Disease	Associate	27082954, 31090495
Pilomatrixoma	Associate	15102076
Plagiocephaly and X linked mental retardation	Associate	33247540
Plaque Atherosclerotic	Stimulate	26555788
Polyps	Associate	20949628
Precancerous Conditions	Stimulate	25601208
Prostatic Neoplasms	Associate	18942118, 19811499, 20537156, 20865693, 28800317, 30013089, 33197890
Prostatitis	Associate	15861517
Radiation Pneumonitis	Associate	28574846
Renal Insufficiency Chronic	Stimulate	31090495
Sarcoma	Associate	25984907
Scleroderma Systemic	Associate	31178673
Smooth Muscle Tumor	Associate	21907184
Soft Tissue Injuries	Associate	35184400
Spinal Cord Diseases	Inhibit	36959678
Spinal Cord Injuries	Associate	36959678
Spondylarthropathies	Associate	14558086
Spondylitis Ankylosing	Associate	33410269, 33935961, 36803548
Squamous Cell Carcinoma of Head and Neck	Associate	22024838, 25271422, 28035402, 34445087
Stomach Neoplasms	Associate	22359486, 25448881, 26872374, 31298369, 35856444
Stomach Neoplasms	Inhibit	27636990
Tertiary Lymphoid Structures	Associate	25797254
Vascular Calcification	Associate	18179800, 21325271, 29895327, 34954251
Wilms Tumor	Associate	26317783
Wolff Parkinson White Syndrome	Associate	21671386

BMP2 (bone morphogenetic protein 2)