Gene: BMP6

Alternate names for this Gene: VGR|VGR1

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3

Description of this Gene: bone morphogenetic protein 6

Type of Gene: protein-coding

rs3812163 in BMP6 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs10498672 in BMP6 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs3812163 in BMP6 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs9505270 in BMP6 gene and Myopia, Degenerative PMID 23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

rs12215656 in BMP6 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs140013431 in BMP6 gene and Small cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs3812163 in BMP6 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10498672 in BMP6 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 24929828 2014 Genome-wide association analysis identifies six new loci associated with forced vital capacity.