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FLASH GENE
Symbol BMP6 contributors: mct - updated : 26-06-2013
HGNC name bone morphogenetic protein 6
HGNC id 1073
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • TGF-beta-like domain
    • mono polymer homomer , heteromer , dimer
    isoforms Precursor cleaved at a consensus Arg-X-X-Arg to yield a C terminus mature dimer
    HOMOLOGY
    interspecies homolog to Drosophila decapentaplegic-Vg,DVR family
    homolog to murine Bmp6
    homolog to Xenopus Vg-1
    intraspecies paralog to BMP5,BMP7
    Homologene
    FAMILY
  • TGF-beta family
    • CATEGORY protooncogene , signaling growth factor , receptor membrane serine/threonine
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • involved in enchondral bone formation
  • trophic factor promoting dendritic growth without modifying axonal length or soma area and increasing the number and differentiation of calbindin-positive neurons
  • may play an important role in the pathogenesis of myelofibrosis in primary myelofibrosis and are apparently induced by cytokines such as TGFbeta-1
  • control CDKN1C expression and cell growth arrest/terminal differentiation in normal primary epidermal keratinocytes
  • having a critical role for iron homeostasis and it is functionally nonredundant with other members of the Bmp subfamily
  • having a key role as a ligand for hemojuvelin and an endogenous regulator of hepcidin expression and iron metabolism
  • important mediator to support healthy follicle growth in the human ovary
  • key regulator of hepatic hepcidin expression and iron metabolism, and iron-induced expression of BMP6 in intestinal cells is the main regulator of hepatic hepcidin expression
  • novel role of BMP6/HMOX1 cascade to relieve breast cancer metastasis by regulating the secretion of growth factors in tumor microenvironment
  • BMP6 and iron not only induce hepcidin expression but also induce TMPRSS6, a negative regulator of hepcidin expression)
  • major regulator of systemic iron
  • reduced Ig production by 70p100 in memory B cells and more than 55p100 in naive B cells, whereas the other BMPs were slightly less potent
  • potent suppressor of naive and memory B cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , ossification
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer BMP2/BMP6 (BMP2/6) compared to the homodimers BMP2 or BMP6 is more potent for inducing differentiation of embryonic stem (hES) cells
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EEF1D is likely the switch through which BMP6 restores CDH1-mediated cell-to-cell adhesion and prevents breast cancer metastasis
  • interacting with HFE2, resulting in increasing expression of HAMP
  • in memory B cells, BMP6 upregulated expression of DNA-binding protein inhibitor genes, but potently inhibited CD40L/IL21-induced upregulation of the transcription factor XBP1, necessary for the late stages of plasmacytic differentiation
  • CREBZF inhibits the function of BMP6 by interacting with SMAD1, SMAD5, SMAD9
  • melatonin plays a role in the regulation of BMP6 signal intensity for controlling progesterone production in the ovary
    • cell & other
    REGULATION
    activated by cleaved by subtilisin like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in advanced stages of myelofibrosis
    constitutional germinal mutation      
    might cause iron overload with severe juvenile hemochromatosis
    tumoral     --over  
    in prostate cancer and associated with bone forming skeletal metastasis
    constitutional     --low  
    in RPE cells in early AMD may contribute to iron build-up in age-related macular degeneration (AMD)
    constitutional     --low  
    decreased hepcidin levels, and increased hepatic iron
    Susceptibility to drepanocytosis with reduced gravity (increasing HBF level)
    Variant & Polymorphism SNP SNP associated with paucisymptomatic drepanocyosis
    Candidate gene
    Marker
  • BMP6 activity could be used as a prognostic indicator in prostate, bladder and colorectal cancers
  • BMP6, NOG and SOST could be used in combination as a prognostic indicator in cancer progression
    • Therapy target
    ANIMAL & CELL MODELS
  • despite their severe iron overload, the livers of Bmp6-deficient mice have low levels of phosphorylated Smad1, Smad5 and Smad8, and these Smads are not significantly translocated to the nucleus
  • Bmp6(-/-) mice had age-dependent retinal iron accumulation and degeneration