• Gene id: 653

Gene Summary

• Gene Symbol: BMP5   Gene   UCSC   Ensembl
• Gene name: bone morphogenetic protein 5
• Alternate names: bone morphogenetic protein 5,
• Gene location: 6p12.1 (55875589: 55753652)     Exons: 13     NC_000006.12
• 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: 112265

Protein Summary

• Protein general information: P22003  
  • Name: Bone morphogenetic protein 5 (BMP 5)
  • Length: 454  
  • Mass: 51737
  • Tissue specificity: Expressed in the lung and liver.
• Sequence:

  MHLTVFLLKGIVGFLWSCWVLVGYAKGGLGDNHVHSSFIYRRLRNHERREIQREILSILGLPHRPRPFSPGKQAS
  SAPLFMLDLYNAMTNEENPEESEYSVRASLAEETRGARKGYPASPNGYPRRIQLSRTTPLTTQSPPLASLHDTNF
  LNDADMVMSFVNLVERDKDFSHQRRHYKEFRFDLTQIPHGEAVTAAEFRIYKDRSNNRFENETIKISIYQIIKEY
  TNRDADLFLLDTRKAQALDVGWLVFDITVTSNHWVINPQNNLGLQLCAETGDGRSINVKSAGLVGRQGPQSKQPF
  MVAFFKASEVLLRSVRAANKRKNQNRNKSSSHQDSSRMSSVGDYNTSEQKQACKKHELYVSFRDLGWQDWIIAPE
  GYAAFYCDGECSFPLNAHMNATNHAIVQTLVHLMFPDHVPKPCCAPTKLNAISVLYFDDSSNVILKKYRNMVVRS
  CGCH

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000359866
• Other Databases: GeneCards:  BMP5  Malacards:  BMP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0070700	BMP receptor binding	IBA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0051216	cartilage development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0070700	BMP receptor binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097065	anterior head development	IEA	biological process
GO:0061384	heart trabecula morphogenesis	IEA	biological process
GO:0060710	chorio-allantoic fusion	IEA	biological process
GO:0060411	cardiac septum morphogenesis	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0043583	ear development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0003272	endocardial cushion formation	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:1905069	allantois development	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0021502	neural fold elevation formation	IEA	biological process
GO:0003344	pericardium morphogenesis	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway	IDA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:1900006	positive regulation of dendrite development	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0010719	negative regulation of epithelial to mesenchymal transition	NAS	biological process
GO:0071676	negative regulation of mononuclear cell migration	NAS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	NAS	biological process
GO:0003323	type B pancreatic cell development	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010894	negative regulation of steroid biosynthetic process	IDA	biological process
GO:0032348	negative regulation of aldosterone biosynthetic process	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:2000065	negative regulation of cortisol biosynthetic process	IDA	biological process
GO:0003344	pericardium morphogenesis	ISS	biological process
GO:0021502	neural fold elevation formation	ISS	biological process
GO:1905069	allantois development	ISS	biological process
GO:0031982	vesicle	ISS	cellular component
GO:0003272	endocardial cushion formation	ISS	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0048738	cardiac muscle tissue development	ISS	biological process
GO:0060037	pharyngeal system development	ISS	biological process
GO:0060411	cardiac septum morphogenesis	ISS	biological process
GO:0061384	heart trabecula morphogenesis	ISS	biological process
GO:0060710	chorio-allantoic fusion	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0001501	skeletal system development	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04390	Hippo signaling pathway
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)