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 homo... See more...

Aliases for BMP6 Gene

Aliases for BMP6 Gene

  • Bone Morphogenetic Protein 6 2 3 4 5
  • Vegetal Related Growth Factor (TGFB-Related) 2 3
  • VG-1-Related Protein 3 4
  • VG-1-R 3 4
  • VGR 3 4
  • BMP-6 4
  • VGR-1 4
  • VGR1 3

External Ids for BMP6 Gene

Previous HGNC Symbols for BMP6 Gene

  • VGR

Previous GeneCards Identifiers for BMP6 Gene

  • GC06P007712
  • GC06P007672
  • GC06P007604

Summaries for BMP6 Gene

Entrez Gene Summary for BMP6 Gene

  • 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]

GeneCards Summary for BMP6 Gene

BMP6 (Bone Morphogenetic Protein 6) is a Protein Coding gene. Diseases associated with BMP6 include Hemochromatosis, Type 5 and Renal Fibrosis. Among its related pathways are ERK Signaling and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and growth factor activity. An important paralog of this gene is BMP5.

UniProtKB/Swiss-Prot Summary for BMP6 Gene

Gene Wiki entry for BMP6 Gene

Additional gene information for BMP6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP6 Gene

Genomics for BMP6 Gene

GeneHancer (GH) Regulatory Elements for BMP6 Gene

Promoters and enhancers for BMP6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP6

Top Transcription factor binding sites by QIAGEN in the BMP6 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HTF
  • MRF-2
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for BMP6 Gene

Genomic Locations for BMP6 Gene
chr6:7,726,099-7,881,728
(GRCh38/hg38)
Size:
155,630 bases
Orientation:
Plus strand
chr6:7,727,011-7,881,961
(GRCh37/hg19)
Size:
154,951 bases
Orientation:
Plus strand

Genomic View for BMP6 Gene

Genes around BMP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP6 Gene

Proteins for BMP6 Gene

  • Protein details for BMP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22004-BMP6_HUMAN
    Recommended name:
    Bone morphogenetic protein 6
    Protein Accession:
    P22004
    Secondary Accessions:
    • Q5TCP3

    Protein attributes for BMP6 Gene

    Size:
    513 amino acids
    Molecular mass:
    57226 Da
    Quaternary structure:
    • Interacts with SOSTDC1.

    Three dimensional structures from OCA and Proteopedia for BMP6 Gene

neXtProt entry for BMP6 Gene

Post-translational modifications for BMP6 Gene

  • Glycosylation at Asn241, Asn269, Asn386, Ser398, Asn404, and Asn454
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMP6 Gene

Domains & Families for BMP6 Gene

Gene Families for BMP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for BMP6 Gene

Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
  • Transforming growth factor beta (TGFb), N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BMP6 Gene

GenScript: Design optimal peptide antigens:
  • BMP6 protein (A1L1B5_HUMAN)
  • BMP6 protein (A4FU96_HUMAN)
  • BMP6 protein (A4FU97_HUMAN)
  • cDNA FLJ51307, highly similar to Bone morphogenetic protein 6 (B4DUF7_HUMAN)
  • VG-1-related protein (BMP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22004

UniProtKB/Swiss-Prot:

BMP6_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP6: view

Function for BMP6 Gene

Molecular function for BMP6 Gene

UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation.
GENATLAS Biochemistry:
bone morphogenetic protein 6 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),potential mediator of skeletal metastases particularly in prostate carcinoma

LifeMap Function Summary for BMP6 Gene

During embryonic development, BMP6 as signaling molecule is secreted from the following cells
BMP6 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for BMP6 Gene

Gene Ontology (GO) - Molecular Function for BMP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005160 transforming growth factor beta receptor binding IBA 21873635
GO:0008083 growth factor activity IEA --
GO:0046982 protein heterodimerization activity IDA 7811286
GO:0070700 BMP receptor binding IDA 7811286
genes like me logo Genes that share ontologies with BMP6: view
genes like me logo Genes that share phenotypes with BMP6: view

Animal Models for BMP6 Gene

MGI Knock Outs for BMP6:

Animal Model Products

  • Taconic Biosciences Mouse Models for BMP6

CRISPR Products

miRNA for BMP6 Gene

miRTarBase miRNAs that target BMP6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BMP6 Gene

Localization for BMP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMP6 gene
Compartment Confidence
extracellular 4
mitochondrion 3
cytosol 3
plasma membrane 2
cytoskeleton 2
nucleus 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BMP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0031982 vesicle IEA --
genes like me logo Genes that share ontologies with BMP6: view

Pathways & Interactions for BMP6 Gene

PathCards logo

SuperPathways for BMP6 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.51
.47
.46
.43
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
4 TGF-Beta Pathway
.60
.60
.57
.51
.43
.40
5 ERK Signaling
.61
.61
.58
.51
.49
genes like me logo Genes that share pathways with BMP6: view

Pathways by source for BMP6 Gene

69 Qiagen pathways for BMP6 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
1 Cell Signaling Technology pathway for BMP6 Gene

Gene Ontology (GO) - Biological Process for BMP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0001501 skeletal system development TAS 8089189
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001654 eye development IEA --
genes like me logo Genes that share ontologies with BMP6: view

No data available for SIGNOR curated interactions for BMP6 Gene

Drugs & Compounds for BMP6 Gene

(80) Drugs for BMP6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(53) Additional Compounds for BMP6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BMP6: view

Transcripts for BMP6 Gene

mRNA/cDNA for BMP6 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMP6 Gene

No ASD Table

Relevant External Links for BMP6 Gene

GeneLoc Exon Structure for
BMP6

Expression for BMP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMP6 Gene

This gene is overexpressed in Heart (48.6) and Peripheral blood mononuclear cells (20.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BMP6 Gene



Protein tissue co-expression partners for BMP6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMP6

SOURCE GeneReport for Unigene cluster for BMP6 Gene:

Hs.285671

Evidence on tissue expression from TISSUES for BMP6 Gene

  • Bone(4.5)
  • Spleen(2.5)
  • Bone marrow(2.4)
  • Liver(2.3)
genes like me logo Genes that share expression patterns with BMP6: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP6 Gene

Orthologs for BMP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMP6 31 30
  • 99.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMP6 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMP6 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp6 17 31 30
  • 86.51 (n)
cow
(Bos Taurus)
Mammalia BMP6 31 30
  • 85.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmp6 30
  • 85.11 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP6 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP6 31 30
  • 79.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMP6 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp6 30
  • 73.4 (n)
zebrafish
(Danio rerio)
Actinopterygii bmp6 31 30
  • 67.27 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gbb 32
  • 34 (a)
scw 32
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 32
  • 32 (a)
Species where no ortholog for BMP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMP6 Gene

ENSEMBL:
Gene Tree for BMP6 (if available)
TreeFam:
Gene Tree for BMP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMP6: view image

Paralogs for BMP6 Gene

(12) SIMAP similar genes for BMP6 Gene using alignment to 6 proteins:

  • BMP6_HUMAN
  • A1L1B5_HUMAN
  • A4FU96_HUMAN
  • A4FU97_HUMAN
  • Q4JCQ2_HUMAN
  • Q4VBA3_HUMAN

Pseudogenes.org Pseudogenes for BMP6 Gene

genes like me logo Genes that share paralogs with BMP6: view

Variants for BMP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP6 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
788354 Benign: not provided 7,727,435(+) C/T SYNONYMOUS_VARIANT
rs909733732 A colorectal cancer sample p.Pro476Leu
VAR_036200 A colorectal cancer sample p.Ala343Asp
rs10458105 - p.Arg257Cys

Additional dbSNP identifiers (rs#s) for BMP6 Gene

Structural Variations from Database of Genomic Variants (DGV) for BMP6 Gene

Variant ID Type Subtype PubMed ID
dgv10287n54 CNV loss 21841781
esv25960 CNV gain 19812545
esv2656550 CNV deletion 23128226
esv2658602 CNV deletion 23128226
esv2678437 CNV deletion 23128226
esv2731542 CNV deletion 23290073
esv2731543 CNV deletion 23290073
esv2731544 CNV deletion 23290073
esv28982 CNV loss 19812545
esv33520 CNV gain 17666407
esv3567223 CNV deletion 23714750
esv3567224 CNV deletion 23714750
esv3576095 CNV gain 25503493
esv3608015 CNV loss 21293372
esv3608016 CNV loss 21293372
esv3608017 CNV loss 21293372
esv3890787 CNV loss 25118596
nsv1074374 CNV deletion 25765185
nsv1130843 CNV deletion 24896259
nsv1133014 OTHER inversion 24896259
nsv1151332 OTHER inversion 26484159
nsv348521 CNV deletion 16902084
nsv462625 CNV loss 19166990
nsv473309 CNV novel sequence insertion 20440878
nsv522173 CNV loss 19592680
nsv525566 CNV loss 19592680
nsv526828 CNV loss 19592680
nsv600917 CNV loss 21841781
nsv600918 CNV loss 21841781
nsv600920 CNV loss 21841781
nsv600924 CNV gain 21841781
nsv600925 CNV loss 21841781
nsv830582 CNV loss 17160897
nsv955944 CNV deletion 24416366

Variation tolerance for BMP6 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.57; 86.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMP6 Gene

Human Gene Mutation Database (HGMD)
BMP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP6 Gene

Disorders for BMP6 Gene

MalaCards: The human disease database

(61) MalaCards diseases for BMP6 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis, type 5
  • hfe5
renal fibrosis
hypertrophic scars
  • scars hypertrophic
bone marrow necrosis
myelofibrosis
  • myelofibrosis with myeloid metaplasia, somatic
- elite association - COSMIC cancer census association via MalaCards
Search BMP6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BMP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP6 Gene

Publications for BMP6 Gene

  1. A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. (PMID: 1427904) Hahn GV … Kaplan FS (Genomics 1992) 2 3 23 54
  2. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (PMID: 22419666) Shi M … Beaty TH (American journal of medical genetics. Part A 2012) 3 41 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41 54
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54

Products for BMP6 Gene

Sources for BMP6 Gene