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Gene id

654

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (7726777: 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 gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]

OMIM

112266

SNPs

rs2250804

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.122505362T>C
NC_000010.10   g.124264878T>C
NC_000010.11   g.122505362T>C
NG_011554.1   g.48838T>C
NM_002775.4   c.778-1329T>C
rs2253755

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000672.2   g.122482041A>G
CM000672.2   g.122482041A>T
NC_000010.10   g.124241557A>G
NC_000010.11   g.122482041A>G
NC_000010.11   g.122482041A>T
NG_011554.1   g.25517A>G
NG_011554.1   g.25517A>T
NM_002775.4   c.473-6861A>G
NM_002775.4   c.473-6861A>T

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: 57,226

Sequence

MPGLGRRAQWLCWWWGLLCSCCGPPPLRPPLPAAAAAAAGGQLLGDGGSPGRTEQPPPSPQSSSGFLYRRLKTQE
KREMQKEILSVLGLPHRPRPLHGLQQPQPPALRQQEEQQQQQQLPRGEPPPGRLKSAPLFMLDLYNALSADNDED
GASEGERQQSWPHEAASSSQRRQPPPGAAHPLNRKSLLAPGSGSGGASPLTSAQDSAFLNDADMVMSFVNLVEYD
KEFSPRQRHHKEFKFNLSQIPEGEVVTAAEFRIYKDCVMGSFKNQTFLISIYQVLQEHQHRDSDLFLLDTRVVWA
SEEGWLEFDITATSNLWVVTPQHNMGLQLSVVTRDGVHVHPRAAGLVGRDGPYDKQPFMVAFFKVSEVHVRTTRS
ASSRRRQQSRNRSTQSQDVARVSSASDYNSSELKTACRKHELYVSFQDLGWQDWIIAPKGYAANYCDGECSFPLN
AHMNATNHAIVQTLVHLMNPEYVPKPCCAPTKLNAISVLYFDDNSNVILKKYRNMVVRACGCH

Structural information

Interpro:	IPR029034 IPR001839 IPR001111 IPR015615 IPR017948
Prosite:	PS00250 PS51362
Pfam:	PF00019 PF00688
PDB:	2QCW 2R52 2R53
PDBsum:	2QCW 2R52 2R53
DIP:	5797
STRING:	ENSP00000283147;

Other Databases

GeneCards: BMP6; Malacards: BMP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001654	eye development	IEA	biological_process
GO:0001822	kidney development	IEA	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0001958	endochondral ossification	IEA	biological_process
GO:0003323	type B pancreatic cell de velopment	IDA	biological_process
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005615	extracellular space	IBA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006879	cellular iron ion homeost asis	ISS	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006955	immune response	IMP	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	ISS	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IDA	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0030501	positive regulation of bo ne mineralization	IDA	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:0030539	male genitalia developmen t	IEA	biological_process
GO:0031666	positive regulation of li popolysaccharide-mediated signaling pathway	ISS	biological_process
GO:0032026	response to magnesium ion	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	IEA	biological_process
GO:0032349	positive regulation of al dosterone biosynthetic pr ocess	IDA	biological_process
GO:0032526	response to retinoic acid	IEA	biological_process
GO:0040007	growth	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0045603	positive regulation of en dothelial cell differenti ation	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	IEA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0050679	positive regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0050714	positive regulation of pr otein secretion	NAS	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological_process
GO:0070700	BMP receptor binding	IDA	molecular_function
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0071281	cellular response to iron ion	ISS	biological_process
GO:0071773	cellular response to BMP stimulus	IMP	biological_process
GO:2000105	positive regulation of DN A-dependent DNA replicati on	NAS	biological_process
GO:2000860	positive regulation of al dosterone secretion	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001654	eye development	IEA	biological_process
GO:0001822	kidney development	IEA	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0001958	endochondral ossification	IEA	biological_process
GO:0003323	type B pancreatic cell de velopment	IDA	biological_process
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006879	cellular iron ion homeost asis	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	ISS	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006955	immune response	IMP	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0010039	response to iron ion	IEA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IEA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	ISS	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IDA	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030501	positive regulation of bo ne mineralization	IDA	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:0030539	male genitalia developmen t	IEA	biological_process
GO:0031666	positive regulation of li popolysaccharide-mediated signaling pathway	IEA	biological_process
GO:0031666	positive regulation of li popolysaccharide-mediated signaling pathway	ISS	biological_process
GO:0032026	response to magnesium ion	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	IEA	biological_process
GO:0032349	positive regulation of al dosterone biosynthetic pr ocess	IDA	biological_process
GO:0032526	response to retinoic acid	IEA	biological_process
GO:0040007	growth	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0045603	positive regulation of en dothelial cell differenti ation	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	IEA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IEA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0050679	positive regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0050714	positive regulation of pr otein secretion	NAS	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	IEA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IEA	biological_process
GO:0060395	SMAD protein signal trans duction	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological_process
GO:0070700	BMP receptor binding	IDA	molecular_function
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0071281	cellular response to iron ion	IEA	biological_process
GO:0071281	cellular response to iron ion	ISS	biological_process
GO:0071773	cellular response to BMP stimulus	IMP	biological_process
GO:2000105	positive regulation of DN A-dependent DNA replicati on	NAS	biological_process
GO:2000860	positive regulation of al dosterone secretion	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0003323	type B pancreatic cell de velopment	IDA	biological_process
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005615	extracellular space	IBA	cellular_component
GO:0006879	cellular iron ion homeost asis	ISS	biological_process
GO:0006955	immune response	IMP	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	ISS	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IDA	biological_process
GO:0030501	positive regulation of bo ne mineralization	IDA	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:0031666	positive regulation of li popolysaccharide-mediated signaling pathway	ISS	biological_process
GO:0032349	positive regulation of al dosterone biosynthetic pr ocess	IDA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0050679	positive regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0050714	positive regulation of pr otein secretion	NAS	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological_process
GO:0070700	BMP receptor binding	IDA	molecular_function
GO:0071281	cellular response to iron ion	ISS	biological_process
GO:0071773	cellular response to BMP stimulus	IMP	biological_process
GO:2000105	positive regulation of DN A-dependent DNA replicati on	NAS	biological_process

KEGG pathways

hsa04390  Hippo signaling pathway
hsa04350  TGF-beta signaling pathway
hsa04913  Ovarian steroidogenesis

Diseases

Associated diseases	References
Cleft lip	PMID: 22419666
Endometriosis	PMID: 21932087
Hypertension	PMID: 18187665
Polycystic ovary syndrome (PCOS)	PMID: 23900753
Endometriosis	INFBASE21932087

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21932087	Endometrio sis			85 consecutive women with endo metriosis		BMP-6	Show abstract