• Gene id: 654

Gene Summary

• Gene Symbol: BMP6   Gene   UCSC   Ensembl
• Aliases: VGR, VGR1
• Gene name: bone morphogenetic protein 6
• Alternate names: bone morphogenetic protein 6, VG-1-R, VG-1-related protein, vegetal related growth factor (TGFB-related),
• Gene location: 6p24.3 (7726098: 7881727)     Exons: 7     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: 165095

SNPs

rs605059

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

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: P22004  
  • Name: Bone morphogenetic protein 6 (BMP 6) (VG 1 related protein) (VG 1 R) (VGR 1)
  • Length: 513  
  • Mass: 57226
• Sequence:

  MPGLGRRAQWLCWWWGLLCSCCGPPPLRPPLPAAAAAAAGGQLLGDGGSPGRTEQPPPSPQSSSGFLYRRLKTQE
  KREMQKEILSVLGLPHRPRPLHGLQQPQPPALRQQEEQQQQQQLPRGEPPPGRLKSAPLFMLDLYNALSADNDED
  GASEGERQQSWPHEAASSSQRRQPPPGAAHPLNRKSLLAPGSGSGGASPLTSAQDSAFLNDADMVMSFVNLVEYD
  KEFSPRQRHHKEFKFNLSQIPEGEVVTAAEFRIYKDCVMGSFKNQTFLISIYQVLQEHQHRDSDLFLLDTRVVWA
  SEEGWLEFDITATSNLWVVTPQHNMGLQLSVVTRDGVHVHPRAAGLVGRDGPYDKQPFMVAFFKVSEVHVRTTRS
  ASSRRRQQSRNRSTQSQDVARVSSASDYNSSELKTACRKHELYVSFQDLGWQDWIIAPKGYAANYCDGECSFPLN
  AHMNATNHAIVQTLVHLMNPEYVPKPCCAPTKLNAISVLYFDDNSNVILKKYRNMVVRACGCH

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 2QCW 2R52 2R53 6OMO
  • PDBsum: 2QCW 2R52 2R53 6OMO
  • DIP: 5797
  • STRING: ENSP00000283147
• Other Databases: GeneCards:  BMP6  Malacards:  BMP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IDA	biological process
GO:1903392	negative regulation of adherens junction organization	IDA	biological process
GO:0043117	positive regulation of vascular permeability	IDA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0070700	BMP receptor binding	IBA	molecular function
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0070700	BMP receptor binding	IDA	molecular function
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0031666	positive regulation of lipopolysaccharide-mediated signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IEA	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0010039	response to iron ion	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0032026	response to magnesium ion	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:2000860	positive regulation of aldosterone secretion	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0071281	cellular response to iron ion	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0014823	response to activity	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0006879	cellular iron ion homeostasis	ISS	biological process
GO:0060395	SMAD protein signal transduction	ISS	biological process
GO:0071281	cellular response to iron ion	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0031666	positive regulation of lipopolysaccharide-mediated signaling pathway	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	ISS	biological process
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	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:0030509	BMP signaling pathway	IDA	biological process
GO:0006955	immune response	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	NAS	biological process
GO:0050714	positive regulation of protein secretion	NAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0032349	positive regulation of aldosterone biosynthetic process	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IDA	biological process
GO:1903392	negative regulation of adherens junction organization	IDA	biological process
GO:0043117	positive regulation of vascular permeability	IDA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0070700	BMP receptor binding	IBA	molecular function
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0070700	BMP receptor binding	IDA	molecular function
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0031666	positive regulation of lipopolysaccharide-mediated signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IEA	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0010039	response to iron ion	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0032026	response to magnesium ion	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:2000860	positive regulation of aldosterone secretion	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0071281	cellular response to iron ion	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0014823	response to activity	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0006879	cellular iron ion homeostasis	ISS	biological process
GO:0060395	SMAD protein signal transduction	ISS	biological process
GO:0071281	cellular response to iron ion	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0031666	positive regulation of lipopolysaccharide-mediated signaling pathway	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	ISS	biological process
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	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:0030509	BMP signaling pathway	IDA	biological process
GO:0006955	immune response	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	NAS	biological process
GO:0050714	positive regulation of protein secretion	NAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0032349	positive regulation of aldosterone biosynthetic process	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04390	Hippo signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Prostate cancer	PMID:18072288
Breast cancer	PMID:17004110
Esophagus squamous cell carcinoma	PMID:22364398
renal cell carcinoma	PMID:20016212
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq