• Gene id: 659

Gene Summary

• Gene Symbol: BMPR2   Gene   UCSC   Ensembl
• Aliases: BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK
• Gene name: bone morphogenetic protein receptor type 2
• Alternate names: bone morphogenetic protein receptor type-2, BMP type II receptor, BMP type-2 receptor, bone morphogenetic protein receptor type II, bone morphogenetic protein receptor, type II (serine/threonine kinase), type II activin receptor-like kinase, type II recep,
• Gene location: 2q33.1-q33.2 (94543850: 94549897)     Exons: 1     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone form
• OMIM: 600799

Protein Summary

• Protein general information: Q13873  
  • Name: Bone morphogenetic protein receptor type 2 (BMP type 2 receptor) (BMPR 2) (EC 2.7.11.30) (Bone morphogenetic protein receptor type II) (BMP type II receptor) (BMPR II)
  • Length: 1038  
  • Mass: 115,201
• Sequence:

  MTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILCSKGSTCYGLWEKSKG
  DINLVKQGCWSHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCSTDLCNVNFTENFPPPDTTPLSPPHSFNRDET
  IIIALASVSVLAVLIVALCFGYRMLTGDRKQGLHSMNMMEAAASEPSLDLDNLKLLELIGRGRYGAVYKGSLDER
  PVAVKVFSFANRQNFINEKNIYRVPLMEHDNIARFIVGDERVTADGRMEYLLVMEYYPNGSLCKYLSLHTSDWVS
  SCRLAHSVTRGLAYLHTELPRGDHYKPAISHRDLNSRNVLVKNDGTCVISDFGLSMRLTGNRLVRPGEEDNAAIS
  EVGTIRYMAPEVLEGAVNLRDCESALKQVDMYALGLIYWEIFMRCTDLFPGESVPEYQMAFQTEVGNHPTFEDMQ
  VLVSREKQRPKFPEAWKENSLAVRSLKETIEDCWDQDAEARLTAQCAEERMAELMMIWERNKSVSPTVNPMSTAM
  QNERNLSHNRRVPKIGPYPDYSSSSYIEDSIHHTDSIVKNISSEHSMSSTPLTIGEKNRNSINYERQQAQARIPS
  PETSVTSLSTNTTTTNTTGLTPSTGMTTISEMPYPDETNLHTTNVAQSIGPTPVCLQLTEEDLETNKLDPKEVDK
  NLKESSDENLMEHSLKQFSGPDPLSSTSSSLLYPLIKLAVEATGQQDFTQTANGQACLIPDVLPTQIYPLPKQQN
  LPKRPTSLPLNTKNSTKEPRLKFGSKHKSNLKQVETGVAKMNTINAAEPHVVTVTMNGVAGRNHSVNSHAATTQY
  ANGTVLSGQTTNIVTHRAQEMLQNQFIGEDTRLNINSSPDEHEPLLRREQQAGHDEGVLDRLVDRRERPLEGGRT
  NSNNNNSNPCSEQDVLAQGVPSTAADPGPSKPRRAQRPNSLDLSATNVLDGSSIQIGESTQDGKSGSGEKIKKRV
  KTPYSLKRWRPSTWVISTESLDCEVNNNGSNRAVHSKSSTAVYLAEGGTATTMVSKDIGMNCL

• Structural information:
  • Protein Domains: Protein (203-504)
  • Interpro: IPR000472  IPR015770  IPR011009  IPR000719  IPR017441   IPR000333  
  • Prosite: PS00107 PS50011
  • PDB: 2HLQ 3G2F
  • PDBsum: 2HLQ 3G2F
  • DIP: 5794
  • STRING: ENSP00000363708
• Other Databases: GeneCards:  BMPR2  Malacards:  BMPR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001707	mesoderm formation	ISS	biological process
GO:0001893	maternal placenta development	IEA	biological process
GO:0001935	endothelial cell proliferation	IMP	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IMP	biological process
GO:0001946	lymphangiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0002063	chondrocyte development	IMP	biological process
GO:0003085	negative regulation of systemic arterial blood pressure	IMP	biological process
GO:0004702	signal transducer, downstream of receptor, with serine/threonine kinase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IMP	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IDA	biological process
GO:0007420	brain development	IEA	biological process
GO:0009267	cellular response to starvation	IEP	biological process
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0014916	regulation of lung blood pressure	ISS	biological process
GO:0014916	regulation of lung blood pressure	IMP	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016362	activin receptor activity, type II	TAS	molecular function
GO:0019838	growth factor binding	IEA	molecular function
GO:0023014	signal transduction by protein phosphorylation	IEA	biological process
GO:0030166	proteoglycan biosynthetic process	ISS	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0030513	positive regulation of BMP signaling pathway	IMP	biological process
GO:0032924	activin receptor signaling pathway	IEA	biological process
GO:0036122	BMP binding	IPI	molecular function
GO:0042127	regulation of cell proliferation	IMP	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044214	spanning component of plasma membrane	TAS	cellular component
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0045906	negative regulation of vasoconstriction	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048010	vascular endothelial growth factor receptor signaling pathway	ISS	biological process
GO:0048286	lung alveolus development	ISS	biological process
GO:0048842	positive regulation of axon extension involved in axon guidance	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0060350	endochondral bone morphogenesis	ISS	biological process
GO:0060836	lymphatic endothelial cell differentiation	ISS	biological process
GO:0060840	artery development	ISS	biological process
GO:0060841	venous blood vessel development	ISS	biological process
GO:0061036	positive regulation of cartilage development	ISS	biological process
GO:0061298	retina vasculature development in camera-type eye	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0072577	endothelial cell apoptotic process	IMP	biological process
GO:0098821	BMP receptor activity	ISS	molecular function
GO:1902731	negative regulation of chondrocyte proliferation	IMP	biological process
GO:2000279	negative regulation of DNA biosynthetic process	IMP	biological process
GO:0005901	caveola	IMP	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001707	mesoderm formation	IEA	biological process
GO:0001707	mesoderm formation	ISS	biological process
GO:0001893	maternal placenta development	IEA	biological process
GO:0001935	endothelial cell proliferation	IMP	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IMP	biological process
GO:0001946	lymphangiogenesis	IEA	biological process
GO:0001946	lymphangiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0002063	chondrocyte development	IMP	biological process
GO:0003085	negative regulation of systemic arterial blood pressure	IMP	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0004702	signal transducer, downstream of receptor, with serine/threonine kinase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IMP	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IDA	biological process
GO:0007420	brain development	IEA	biological process
GO:0009267	cellular response to starvation	IEP	biological process
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0014916	regulation of lung blood pressure	IEA	biological process
GO:0014916	regulation of lung blood pressure	ISS	biological process
GO:0014916	regulation of lung blood pressure	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016362	activin receptor activity, type II	TAS	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0019838	growth factor binding	IEA	molecular function
GO:0023014	signal transduction by protein phosphorylation	IEA	biological process
GO:0030166	proteoglycan biosynthetic process	ISS	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0030513	positive regulation of BMP signaling pathway	IMP	biological process
GO:0032924	activin receptor signaling pathway	IEA	biological process
GO:0036122	BMP binding	IPI	molecular function
GO:0042127	regulation of cell proliferation	IMP	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044214	spanning component of plasma membrane	TAS	cellular component
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0045906	negative regulation of vasoconstriction	IEA	biological process
GO:0045906	negative regulation of vasoconstriction	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048010	vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	ISS	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0048286	lung alveolus development	ISS	biological process
GO:0048842	positive regulation of axon extension involved in axon guidance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0060350	endochondral bone morphogenesis	ISS	biological process
GO:0060836	lymphatic endothelial cell differentiation	IEA	biological process
GO:0060836	lymphatic endothelial cell differentiation	ISS	biological process
GO:0060840	artery development	IEA	biological process
GO:0060840	artery development	ISS	biological process
GO:0060841	venous blood vessel development	IEA	biological process
GO:0060841	venous blood vessel development	ISS	biological process
GO:0061036	positive regulation of cartilage development	ISS	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0072577	endothelial cell apoptotic process	IMP	biological process
GO:0098821	BMP receptor activity	ISS	molecular function
GO:1902731	negative regulation of chondrocyte proliferation	IMP	biological process
GO:2000279	negative regulation of DNA biosynthetic process	IMP	biological process
GO:0005901	caveola	IMP	cellular component
GO:0001707	mesoderm formation	ISS	biological process
GO:0001935	endothelial cell proliferation	IMP	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IMP	biological process
GO:0001946	lymphangiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0002063	chondrocyte development	IMP	biological process
GO:0003085	negative regulation of systemic arterial blood pressure	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IMP	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IDA	biological process
GO:0009267	cellular response to starvation	IEP	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0014916	regulation of lung blood pressure	ISS	biological process
GO:0014916	regulation of lung blood pressure	IMP	biological process
GO:0016362	activin receptor activity, type II	TAS	molecular function
GO:0030166	proteoglycan biosynthetic process	ISS	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0030513	positive regulation of BMP signaling pathway	IMP	biological process
GO:0036122	BMP binding	IPI	molecular function
GO:0042127	regulation of cell proliferation	IMP	biological process
GO:0044214	spanning component of plasma membrane	TAS	cellular component
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0045906	negative regulation of vasoconstriction	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	ISS	biological process
GO:0048286	lung alveolus development	ISS	biological process
GO:0060350	endochondral bone morphogenesis	ISS	biological process
GO:0060836	lymphatic endothelial cell differentiation	ISS	biological process
GO:0060840	artery development	ISS	biological process
GO:0060841	venous blood vessel development	ISS	biological process
GO:0061036	positive regulation of cartilage development	ISS	biological process
GO:0061298	retina vasculature development in camera-type eye	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0072577	endothelial cell apoptotic process	IMP	biological process
GO:0098821	BMP receptor activity	ISS	molecular function
GO:1902731	negative regulation of chondrocyte proliferation	IMP	biological process
GO:2000279	negative regulation of DNA biosynthetic process	IMP	biological process
GO:0005901	caveola	IMP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04360	Axon guidance
hsa05206	MicroRNAs in cancer
hsa05418	Fluid shear stress and atherosclerosis

Diseases

Associated diseases	References
Cancer (colorectal)	GAD: 20955454
Cardiovascular disease	GAD: 15358693
Hypertension	GAD: 12358323
Cleft defects	GAD: 20634891
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Juvenile polyposis	GAD: 15235019
Premature ovarian failure (POF)	INFBASE: 25989972
Polycystic ovary syndrome (PCOS)	MIK: 22825968
Pulmonary arterial hypertension	KEGG: H01621
Anoxia	GAD: 19307479
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Polycystic ovary syndrome (PCOS)	MIK: 22825968
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22825968	PCOS		PCOS un dergoin g COH	53 (18 patients with PCOS, 35 controls)	Male infertility	BMPR2 BMP15 and GDF9
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq