BMP6 bone morphogenetic protein 6 [Homo sapiens] - Gene

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Summary

Official Symbol: BMP6provided by HGNC
Official Full Name: bone morphogenetic protein 6provided by HGNC
Primary source: HGNC:1073
See related: Ensembl:ENSG00000153162; HPRD:00211; MIM:112266; Vega:OTTHUMG00000014217
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VGR; VGR1
Summary: The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6p24-p23

Sequence :: Chromosome: 6; NC_000006.11 (7727011..7881961)

See BMP6 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

BMP-6 mainly inhibited plasmablast differentiation, and BMP-7 mainly induced apoptosis in human memory B cells
Title: Bone morphogenetic proteins inhibit CD40L/IL-21-induced Ig production in human B cells: differential effects of BMP-6 and BMP-7.
BMP6 and iron not only induce hepcidin expression but also induce TMPRSS6, a negative regulator of hepcidin expression
Title: Regulation of TMPRSS6 by BMP6 and iron in human cells and mice.
a novel role of BMP-6/HO-1 cascade to relieve breast cancer metastasis by regulating the secretion of growth factors in tumor microenvironment.
Title: BMP-6 inhibits MMP-9 expression by regulating heme oxygenase-1 in MCF-7 breast cancer cells.
AGTR1 gene deletion is associated with congenital anomalies of the kidneys and urinary tract.
Title: Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
the cBMP6 mRNA and H3K27me3 levels revealed significant differences between patients with local local advanced, or metastatic disease
Title: Post-treatment circulating plasma BMP6 mRNA and H3K27 methylation levels discriminate metastatic prostate cancer from localized disease.
Ass-associated increases in BMP6 expression in a transgenic mouse model of Alzheimer's disease may have deleterious effects on neurogenesis in the hippocampus.
Title: Increased BMP6 levels in the brains of Alzheimer's disease patients and APP transgenic mice are accompanied by impaired neurogenesis.
c/hemojuvelin is a broad spectrum bone morphogenetic protein (BMP) antagonist and inhibits both BMP2- and BMP6-mediated signaling and gene expression
Title: Soluble repulsive guidance molecule c/hemojuvelin is a broad spectrum bone morphogenetic protein (BMP) antagonist and inhibits both BMP2- and BMP6-mediated signaling and gene expression.
conclude that BMP-2/6 is more potent than BMP-2 or BMP-6 for inducing differentiation of human embryonic stem cells, and it can be used as a more powerful substitute of these BMPs in in vitro differentiation guidance
Title: BMP-2/6 heterodimer is more effective than BMP-2 or BMP-6 homodimers as inductor of differentiation of human embryonic stem cells.
BMP6, Smad1, Smad2 mRNA and protein expression were significantly higher in during sickle-cell pathology with orthopedic complications.
Title: Induced expression of bone morphogenetic protein-6 and Smads signaling in human monocytes derived dendritic cells during sickle-cell pathology with orthopedic complications.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all (51)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Many sequence variants affecting diversity of adult human height.

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Products	Interactant	Other Gene	Source	Pubs	Description
P22004	P27037	ACVR2A	HPRD	PubMed
P22004	Q8N8U9	BMPER	HPRD	PubMed
P22004	P36894	BMPR1A	HPRD	PubMed
P22004	O00238	BMPR1B	HPRD	PubMed
P22004	Q13873	BMPR2	HPRD	PubMed
P22004	Q6WN34	CHRDL2	HPRD	PubMed
P22004	Q9Y6Q9	NCOA3	HPRD	PubMed
P22004	Q99717	SMAD5	HPRD	PubMed
P22004	Q6X4U4	SOSTDC1	HPRD	PubMed
BioGRID:107122	BioGRID:106607	ACVR2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107122	BioGRID:106608	ACVR2B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107122	BioGRID:107125	BMPR1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107122	BioGRID:107127	BMPR2	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
BMP receptor binding	IPI Inferred from Physical Interaction more info	PubMed
cytokine activity	IEA Inferred from Electronic Annotation more info
growth factor activity	IEA Inferred from Electronic Annotation more info
protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
cartilage development	IEA Inferred from Electronic Annotation more info
endochondral ossification	IEA Inferred from Electronic Annotation more info
eye development	IEA Inferred from Electronic Annotation more info
growth	IEA Inferred from Electronic Annotation more info
immune response	IMP Inferred from Mutant Phenotype more info	PubMed
inflammatory response	IEA Inferred from Electronic Annotation more info
kidney development	IEA Inferred from Electronic Annotation more info
male genitalia development	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
positive regulation of aldosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
positive regulation of endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of pathway-restricted SMAD protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
skeletal system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: bone morphogenetic protein 6

Names: bone morphogenetic protein 6; BMP-6; VGR-1; VG-1-R; VG-1-related protein; Vg1-related sequence; vegetal-related (TGFB related) cytokine; vegetal related growth factor (TGFB-related)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001718.4 → NP_001709.1 bone morphogenetic protein 6 preproprotein

Status: REVIEWED

Source sequence(s)

AL133541, AL135778, BC099624, M60315

Consensus CDS

CCDS4503.1

UniProtKB/Swiss-Prot

P22004

UniProtKB/TrEMBL

Q4VBA3

Related

ENSP00000283147, OTTHUMP00000016006, ENST00000283147, OTTHUMT00000039794

Conserved Domains (2) summary

pfam00688
Location:66 – 362
Blast Score: 459

TGFb_propeptide; TGF-beta propeptide

cl02510
Location:412 – 513
Blast Score: 515

TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

7727011..7881961

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

7604128..7759039

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF083030.1	AAC33283.1
genomic	AL133541.21	CAI19472.1
genomic	AL135778.9	CAI19426.1
genomic	CH471087.1	EAW55219.1
mRNA	AK300628.1	BAG62319.1
mRNA	BC096084.2	AAH96084.1
mRNA	BC096085.2	AAH96085.1
mRNA	BC099624.1	AAH99624.1
mRNA	BC099625.1	AAH99625.1
mRNA	BC111763.1	AAI11764.1
mRNA	BC112352.1	AAI12353.1
mRNA	BC113018.1	AAI13019.1
mRNA	BC113019.1	AAI13020.1
mRNA	BC128031.1	AAI28032.1
mRNA	M60315.1	AAA36737.1
other-genetic	BC160106.1	AAI60106.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P22004.1	GenPept	UniProtKB/Swiss-Prot:P22004
Q4JCQ2	GenPept	UniProtKB/TrEMBL:Q4JCQ2
Q4VBA3	GenPept	UniProtKB/TrEMBL:Q4VBA3