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

Gene ID: 654, updated on 10-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
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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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP receptor binding PubMed 
enables cytokine activity  
enables growth factor activity  
enables protein binding PubMed 
enables protein heterodimerization activity PubMed 
Items 1 - 25 of 49
Process Evidence Code Pubs
involved_in BMP signaling pathway  
involved_in BMP signaling pathway PubMed 
involved_in BMP signaling pathway PubMed 
involved_in bone development PubMed 
involved_in cartilage development  
involved_in cellular response to BMP stimulus PubMed 
involved_in cellular response to iron ion  
involved_in cellular response to mechanical stimulus  
involved_in endochondral ossification  
involved_in eye development  
involved_in immune response PubMed 
involved_in inflammatory response  
involved_in intracellular iron ion homeostasis  
involved_in kidney development  
involved_in male genitalia development  
involved_in multicellular organismal-level iron ion homeostasis PubMed 
involved_in multicellular organismal-level iron ion homeostasis  
involved_in negative regulation of adherens junction organization PubMed 
involved_in negative regulation of cell-cell adhesion mediated by cadherin PubMed 
involved_in negative regulation of transcription by RNA polymerase II  
involved_in neuron differentiation  
involved_in osteoblast differentiation  
involved_in positive regulation of SMAD protein signal transduction PubMed 
involved_in positive regulation of SMAD protein signal transduction  
involved_in positive regulation of aldosterone biosynthetic process PubMed 
involved_in positive regulation of aldosterone secretion  
involved_in positive regulation of bone mineralization PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of chondrocyte differentiation  
involved_in positive regulation of endothelial cell differentiation  
involved_in positive regulation of endothelial cell proliferation  
involved_in positive regulation of epithelial cell proliferation PubMed 
involved_in positive regulation of gene expression PubMed 
involved_in positive regulation of lipopolysaccharide-mediated signaling pathway  
involved_in positive regulation of neuron differentiation  
involved_in positive regulation of osteoblast differentiation PubMed 
involved_in positive regulation of peptidyl-tyrosine phosphorylation PubMed 
involved_in positive regulation of protein secretion PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of vascular permeability PubMed 
involved_in response to activity  
involved_in response to glucocorticoid  
involved_in response to magnesium ion  
involved_in response to retinoic acid  
involved_in skeletal system development PubMed 
involved_in type B pancreatic cell development PubMed 
Items 1 - 25 of 49
Component Evidence Code Pubs
is_active_in extracellular space  
located_in extracellular space PubMed 
located_in vesicle  

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)

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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)
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