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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort.
Title: BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort.
Bone morphogenetic protein 6 induces downregulation of pentraxin 3 expression in human granulosa lutein cells in women with polycystic ovary syndrome.
Title: Bone morphogenetic protein 6 induces downregulation of pentraxin 3 expression in human granulosa lutein cells in women with polycystic ovary syndrome.
BMP6 participates in the pathogenesis of adolescent idiopathic scoliosis by regulating osteopenia.
Title: BMP6 participates in the pathogenesis of adolescent idiopathic scoliosis by regulating osteopenia.
RNF4~RGMb~BMP6 axis required for osteogenic differentiation and cancer cell survival.
Title: RNF4~RGMb~BMP6 axis required for osteogenic differentiation and cancer cell survival.
Blood BMP6 Associated with Cognitive Performance and Alzheimer's Disease Diagnosis: A Longitudinal Study of Elders.
Title: Blood BMP6 Associated with Cognitive Performance and Alzheimer's Disease Diagnosis: A Longitudinal Study of Elders.
Immunohistochemical analysis revealed the expression of bone morphogenetic proteins-4, 6, 7, and 9 in human induced membrane samples treated with the Masquelet technique.
Title: Immunohistochemical analysis revealed the expression of bone morphogenetic proteins-4, 6, 7, and 9 in human induced membrane samples treated with the Masquelet technique.
The effect of cellular and physiological indicators on gender determination.
Title: The effect of cellular and physiological indicators on gender determination.
Bone morphogenetic protein 6-mediated crosstalk between endothelial cells and hepatocytes recapitulates the iron-sensing pathway in vitro.
Title: Bone morphogenetic protein 6-mediated crosstalk between endothelial cells and hepatocytes recapitulates the iron-sensing pathway in vitro.
Bone morphogenetic protein 6 expression in cumulus cells is negatively associated with oocyte maturation.
Title: Bone morphogenetic protein 6 expression in cumulus cells is negatively associated with oocyte maturation.
BMP6 increases CD68 expression by up-regulating CTGF expression in human granulosa-lutein cells.
Title: BMP6 increases CD68 expression by up-regulating CTGF expression in human granulosa-lutein cells.

Submit: New GeneRIF Correction See all GeneRIFs (119)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL035176 (e-PCR)
- UniSTS:94732

WI-13193 (e-PCR)
- UniSTS:6694

SHGC-145537 (e-PCR)
- UniSTS:174635

NoName (e-PCR)
- UniSTS:482861

SHGC-104947 (e-PCR)
- UniSTS:169044

SHGC-79401 (e-PCR)
- UniSTS:103291

RH102060 (e-PCR)
- UniSTS:96394

RH120353 (e-PCR)
- UniSTS:132494

A002L04 (e-PCR)
- UniSTS:3730

NIB594 (e-PCR)
- UniSTS:19406

RH120640 (e-PCR)
- UniSTS:132581

D6S1842 (e-PCR)
- UniSTS:65530

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

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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.