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Aliases for BMP6 Gene

Aliases for BMP6 Gene

  • Bone Morphogenetic Protein 6 2 3 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 Bone Marrow Necrosis. Among its related pathways are GPCR Pathway and PEDF Induced Signaling. 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 for BMP6 Gene

  • Induces cartilage and bone formation.

Gene Wiki entry for BMP6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP6 Gene

Genomics for BMP6 Gene

Regulatory Elements for BMP6 Gene

Enhancers for BMP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G007996 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +270.2 270212 1.0 KLF17 ZNF335 ZNF366 CEBPB ZEB2 REST ZNF398 ZNF518A ZNF843 ZNF589 BMP6 BLOC1S5 TXNDC5 GC06P007990 PIR38170 PIR57650
GH06G007974 1.6 Ensembl ENCODE dbSUPER 11.5 +249.0 248956 2.8 FOXA2 PKNOX1 CREB3L1 MLX ARNT SIN3A ARID4B DMAP1 FEZF1 ZNF2 BMP6 LOC101928076 TXNDC5 GC06M007967 PIP5K1P1
GH06G007908 1.6 Ensembl ENCODE dbSUPER 10.7 +183.5 183529 3.4 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 RIOK1 TXNDC5 BMP6 BLOC1S5 LOC100506207 GC06P007902
GH06G007991 1.4 Ensembl ENCODE dbSUPER 11.1 +265.7 265716 1.8 ELF3 TBP FOXA2 CBX3 ARNT RAD21 CHAMP1 RFX5 GATA2 SMARCC2 BLOC1S5 BMP6 PIP5K1P1 RIOK1 PIR38170 GC06P007990 PIR57650
GH06G007914 1.2 FANTOM5 ENCODE dbSUPER 10.7 +188.7 188705 1.2 ZNF639 JUN MAX CEBPG GABPA SCRT2 FOXP2 FOS CREM MYC TXNDC5 BMP6 BLOC1S5 EEF1E1 SNRNP48 GC06M007933
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMP6 on UCSC Golden Path with GeneCards custom track

Promoters for BMP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000319382 222 401 KLF17 SIN3A ZNF2 ZNF335 GLIS2 ZNF391 ZNF263 ZEB2 ZNF398 ZNF148
ENSR00000192827 -478 601 PKNOX1 SIN3A ZNF2 ZNF48 GLIS2 FOS ZNF263 SP3 NFYC ZNF488
ENSR00000319381 1322 201 MXI1 SUZ12 MAX ZNF335 ZNF366 PATZ1 PCBP1 PRDM10 EZH2 ZNF263

Genomic Location for BMP6 Gene

Chromosome:
6
Start:
7,726,778 bp from pter
End:
7,881,728 bp from pter
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BMP6 (BMP6)

No data available for DME Specific Peptides for BMP6 Gene

Domains & Families for BMP6 Gene

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

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

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:

Gene Ontology (GO) - Molecular Function for BMP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA,IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
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

miRNA for BMP6 Gene

miRTarBase miRNAs that target BMP6

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 5
mitochondrion 3
plasma membrane 2
cytosol 2
cytoskeleton 1
nucleus 1
lysosome 1

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,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

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

Gene Ontology (GO) - Biological Process for BMP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter 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

(78) Drugs for BMP6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(55) 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 :
(11) Additional mRNA sequences :
(107) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BMP6 Gene

Bone morphogenetic protein 6:
Representative Sequences:

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

No ASD Table

Relevant External Links for BMP6 Gene

GeneLoc Exon Structure for
BMP6
ECgene alternative splicing isoforms for
BMP6

Expression for BMP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for BMP6 Gene



Protein tissue co-expression partners for BMP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BMP6 Gene:

BMP6

SOURCE GeneReport for Unigene cluster for BMP6 Gene:

Hs.285671

Evidence on tissue expression from TISSUES for BMP6 Gene

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

Primer Products

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 34 35
  • 99.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BMP6 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMP6 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp6 34 16 35
  • 86.51 (n)
cow
(Bos Taurus)
Mammalia BMP6 34 35
  • 85.99 (n)
rat
(Rattus norvegicus)
Mammalia Bmp6 34
  • 85.11 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP6 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP6 34 35
  • 79.8 (n)
lizard
(Anolis carolinensis)
Reptilia BMP6 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp6 34
  • 73.4 (n)
zebrafish
(Danio rerio)
Actinopterygii bmp6 34 35
  • 67.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta gbb 36
  • 34 (a)
scw 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 36
  • 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)

Paralogs for BMP6 Gene

Paralogs for BMP6 Gene

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

Pseudogenes.org Pseudogenes for BMP6 Gene

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

Variants for BMP6 Gene

Sequence variations from dbSNP and Humsavar for BMP6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_036200 A colorectal cancer sample
VAR_036201 A colorectal cancer sample
rs1000014668 -- 7,793,660(+) TGTGC(C/T)CAGCA intron-variant
rs1000022742 -- 7,874,839(+) TCTCT(A/G)TGCCC intron-variant
rs1000054938 -- 7,755,375(+) TTTAT(A/C)GTATA intron-variant

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)

Relevant External Links for BMP6 Gene

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

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

Disorders for BMP6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemochromatosis, type 5
  • hemochromatosis type 5
bone marrow necrosis
hypertrophic scars
  • scars hypertrophic
eosinophilic fasciitis
  • ef
cholecystolithiasis
- elite association - COSMIC cancer census association via MalaCards
Search BMP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BMP6

Genetic Association Database (GAD)
BMP6
Human Genome Epidemiology (HuGE) Navigator
BMP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP6
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 G.V. … Kaplan F.S. (Genomics 1992) 2 3 22 64
  2. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (PMID: 22419666) Shi M. … Beaty T.H. (Am. J. Med. Genet. A 2012) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  5. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 64

Products for BMP6 Gene

  • Cloud-Clone Corp. Antibodies for BMP6
  • Cloud-Clone Corp. Proteins for BMP6
  • Cloud-Clone Corp Assay Kits for BMP6

Sources for BMP6 Gene

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