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

    Gene ID: 654, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:1073
    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
    IO; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BMP6 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7726099..7881728)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7594835..7750477)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7726332..7881961)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5647 silencer Neighboring gene ribosomal protein L29 pseudogene 1 Neighboring gene uncharacterized LOC105374906 Neighboring gene NANOG hESC enhancer GRCh37_chr6:7685011-7685581 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:7696296-7696460 Neighboring gene Sharpr-MPRA regulatory region 4297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7734858-7735358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7735359-7735859 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:7763783-7764982 Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:7882299-7883498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23952 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:7919793-7920992 Neighboring gene thioredoxin domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7986177-7986678 Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8012284-8012492 Neighboring gene MPRA-validated peak5648 silencer Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8063830-8064456

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Iron overload, susceptibility to
    MedGen: C5703292 OMIM: 620121 GeneReviews: Not available
    not available

    EBI 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.
    EBI GWAS Catalog
    Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
    EBI GWAS Catalog
    Genome-wide association analysis identifies six new loci associated with forced vital capacity.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to iron ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multicellular organismal-level iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of adherens junction organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell-cell adhesion mediated by cadherin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of aldosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of aldosterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of lipopolysaccharide-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein secretion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of vascular permeability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to magnesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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_001718.6NP_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, Q5TCP3
      UniProtKB/TrEMBL
      B4DUF7
      Related
      ENSP00000283147.6, ENST00000283147.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7594835..7750477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)