Format

Send to:

Choose Destination
    • Showing Current items.

    BMP6 bone morphogenetic protein 6 [ Homo sapiens (human) ]

    Gene ID: 654, updated on 4-Nov-2018

    Summary

    Official Symbol
    BMP6provided by HGNC
    Official Full Name
    bone morphogenetic protein 6provided by HGNC
    Primary source
    HGNC:HGNC:1073
    See related
    Ensembl:ENSG00000153162 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
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 15.8), lung (RPKM 11.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See BMP6 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (7726099..7881728)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7727011..7881972)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 1 Neighboring gene uncharacterized LOC105374906 Neighboring gene uncharacterized LOC105374907 Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene thioredoxin domain containing 5 Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    NHGRI GWA Catalog
    Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies six new loci associated with forced vital capacity.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of bone morphogenetic protein 6 (BMP6) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • BMP signaling, organism-specific biosystem (from KEGG)
      BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signaling, conserved biosystem (from KEGG)
      BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
    • Hfe effect on hepcidin production, organism-specific biosystem (from WikiPathways)
      Hfe effect on hepcidin production, organism-specific biosystemnew pathway, converted from mouse WP3673
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
      Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • Ovarian steroidogenesis, conserved biosystem (from KEGG)
      Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to iron ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to mechanical stimulus 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
     
    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 iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of aldosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of aldosterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of lipopolysaccharide-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein secretion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    response to magnesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein 6
    Names
    VG-1-R
    VG-1-related protein
    vegetal related growth factor (TGFB-related)

    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)

    1. NM_001718.5NP_001709.1  bone morphogenetic protein 6 preproprotein

      See identical proteins and their annotated locations for NP_001709.1

      Status: REVIEWED

      Source sequence(s)
      AA700487, AK300628, AL133541, AL135778, BC099624, BF732376, M60315
      Consensus CDS
      CCDS4503.1
      UniProtKB/Swiss-Prot
      P22004
      UniProtKB/TrEMBL
      B4DUF7, Q4VBA3
      Related
      ENSP00000283147.6, OTTHUMP00000016006, ENST00000283147.6, OTTHUMT00000039794
      Conserved Domains (2) summary
      smart00204
      Location:412513
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:65362
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      7726099..7881728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center