• Gene id: 655

Gene Summary

• Gene Symbol: BMP7   Gene   UCSC   Ensembl
• Aliases: OP-1
• Gene name: bone morphogenetic protein 7
• Alternate names: bone morphogenetic protein 7, osteogenic protein 1,
• Gene location: 20q13.31 (57266650: 57168752)     Exons: 7     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 112267

SNPs

rs17431717

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120474407G>A
NC_000012.11   g.120912210G>A|SEQ=[G/A]|GENE=DYNLL1

rs10849753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120473010C>A
NC_000012.12   g.120473010C>T
NC_000012.11   g.120910813C>A
NC_000012.11   g.120910813C>T|SEQ=[C/A/T]|GENE=DYNLL1

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

Protein Summary

• Protein general information: P18075  
  • Name: Bone morphogenetic protein 7 (BMP 7) (Osteogenic protein 1) (OP 1) (Eptotermin alfa)
  • Length: 431  
  • Mass: 49,313
• Sequence:

  MHVRSLRAAAPHSFVALWAPLFLLRSALADFSLDNEVHSSFIHRRLRSQERREMQREILSILGLPHRPRPHLQGK
  HNSAPMFMLDLYNAMAVEEGGGPGGQGFSYPYKAVFSTQGPPLASLQDSHFLTDADMVMSFVNLVEHDKEFFHPR
  YHHREFRFDLSKIPEGEAVTAAEFRIYKDYIRERFDNETFRISVYQVLQEHLGRESDLFLLDSRTLWASEEGWLV
  FDITATSNHWVVNPRHNLGLQLSVETLDGQSINPKLAGLIGRHGPQNKQPFMVAFFKATEVHFRSIRSTGSKQRS
  QNRSKTPKNQEALRMANVAENSSSDQRQACKKHELYVSFRDLGWQDWIIAPEGYAAYYCEGECAFPLNSYMNATN
  HAIVQTLVHFINPETVPKPCCAPTQLNAISVLYFDDSSNVILKKYRNMVVRACGCH

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 1BMP 1LX5 1LXI 1M4U
  • PDBsum: 1BMP 1LX5 1LXI 1M4U
  • DIP: 5800
  • STRING: ENSP00000379204
• Other Databases: GeneCards:  BMP7  Malacards:  BMP7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	TAS	biological process
GO:0001503	ossification	IEA	biological process
GO:0001656	metanephros development	IEP	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001823	mesonephros development	IEP	biological process
GO:0001837	epithelial to mesenchymal transition	TAS	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007411	axon guidance	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0010664	negative regulation of striated muscle cell apoptotic process	ISS	biological process
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	TAS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0016358	dendrite development	TAS	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IDA	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0040007	growth	IEA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042347	negative regulation of NF-kappaB import into nucleus	ISS	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0043434	response to peptide hormone	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048762	mesenchymal cell differentiation	IDA	biological process
GO:0048812	neuron projection morphogenesis	IDA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0060485	mesenchyme development	ISS	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0060686	negative regulation of prostatic bud formation	IEA	biological process
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA	biological process
GO:0070487	monocyte aggregation	IDA	biological process
GO:0070700	BMP receptor binding	IBA	molecular function
GO:0071456	cellular response to hypoxia	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0072040	negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis	IEA	biological process
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA	biological process
GO:0072133	metanephric mesenchyme morphogenesis	IEA	biological process
GO:0072134	nephrogenic mesenchyme morphogenesis	IEA	biological process
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	IEA	biological process
GO:1900006	positive regulation of dendrite development	IDA	biological process
GO:1900106	positive regulation of hyaluranon cable assembly	IDA	biological process
GO:2000121	regulation of removal of superoxide radicals	ISS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001503	ossification	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0001656	metanephros development	IEP	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001823	mesonephros development	IEP	biological process
GO:0001837	epithelial to mesenchymal transition	TAS	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007435	salivary gland morphogenesis	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0010664	negative regulation of striated muscle cell apoptotic process	ISS	biological process
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	TAS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010942	positive regulation of cell death	IEA	biological process
GO:0016358	dendrite development	TAS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IDA	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0035239	tube morphogenesis	IEA	biological process
GO:0040007	growth	IEA	biological process
GO:0042325	regulation of phosphorylation	IEA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042347	negative regulation of NF-kappaB import into nucleus	ISS	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0043434	response to peptide hormone	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048762	mesenchymal cell differentiation	IDA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0048812	neuron projection morphogenesis	IDA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0060485	mesenchyme development	IEA	biological process
GO:0060485	mesenchyme development	ISS	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0060686	negative regulation of prostatic bud formation	IEA	biological process
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA	biological process
GO:0070487	monocyte aggregation	IDA	biological process
GO:0070700	BMP receptor binding	IBA	molecular function
GO:0071456	cellular response to hypoxia	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0072040	negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis	IEA	biological process
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA	biological process
GO:0072133	metanephric mesenchyme morphogenesis	IEA	biological process
GO:0072134	nephrogenic mesenchyme morphogenesis	IEA	biological process
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	IEA	biological process
GO:1900006	positive regulation of dendrite development	IDA	biological process
GO:1900106	positive regulation of hyaluranon cable assembly	IDA	biological process
GO:2000121	regulation of removal of superoxide radicals	ISS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001656	metanephros development	IEP	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0001823	mesonephros development	IEP	biological process
GO:0001837	epithelial to mesenchymal transition	TAS	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0010664	negative regulation of striated muscle cell apoptotic process	ISS	biological process
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	TAS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0016358	dendrite development	TAS	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IDA	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042347	negative regulation of NF-kappaB import into nucleus	ISS	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0048762	mesenchymal cell differentiation	IDA	biological process
GO:0048812	neuron projection morphogenesis	IDA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060485	mesenchyme development	ISS	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0070487	monocyte aggregation	IDA	biological process
GO:0070700	BMP receptor binding	IBA	molecular function
GO:0071456	cellular response to hypoxia	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA	biological process
GO:1900006	positive regulation of dendrite development	IDA	biological process
GO:1900106	positive regulation of hyaluranon cable assembly	IDA	biological process
GO:2000121	regulation of removal of superoxide radicals	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cleft defects	GAD: 18978678
Hyperparathyroidism	GAD: 20424473
Obesity	GAD: 20734064
Diabetes	GAD: 20546278
Bone diseases	GAD: 19453261
Alzheimer's disease	GAD: 19141999
Major depressive disorder	GAD: 19846067
Hypospadias	GAD: 17003840
Polycystic ovary syndrome (PCOS)	INFBASE: 23243014
Testicular dysgenesis syndrome (TDS)	MIK: 22140272
Testicular dysgenesis syndrome (TDS)	MIK: 22140272
Calcinosis	GAD: 19453255
Cryptorchidism	MIK: 28606200
Testicular dysgenesis syndrome (TDS)	MIK: 22140272

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22140272	Testicular dysgenesis syndrome (TDS)		Danish, Norweg ian, No rdic	1198 (488 patients with symptoms of TDS, 439 selected controls, 671 Nordic men)	Male infertility	TGFBR3 BMP7
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq