BGN Chromosome X
Biglycan
Upload your DNA to see your personal genotypes for variants in BGN.
What This Gene Does
This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Small leucine rich repeat proteoglycans
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000182492
Associated Conditions (7)
Cardiovascular phenotype
Meester-Loeys syndrome
Nonpapillary renal cell carcinoma
BGN-related disorder
Familial thoracic aortic aneurysm and aortic dissection
X-linked spondyloepimetaphyseal dysplasia
Familial aortopathy
Key Variants
RS1164015835
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1166225684
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS138787321
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1556993081
Conflicting classifications of pathogenicity
Meester-Loeys syndrome, Meester-Loeys syndrome
Health Risk
RS188309404
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS200072898
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Nonpapillary renal cell carcinoma, Cardiovascular phenotype
Health Risk
RS201184042
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS201567818
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2089792021
Conflicting classifications of pathogenicity
Meester-Loeys syndrome, Meester-Loeys syndrome
Health Risk
RS370838225
Conflicting classifications of pathogenicity
BGN-related disorder, BGN-related disorder
Health Risk
RS782136399
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS782239175
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1164015835 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1166225684 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS138787321 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1556993081 | Health Risk | Conflicting classifications of pathogenicity | Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS188309404 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS200072898 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Nonpapillary renal cell carcinoma, Cardiovascular phenotype |
| RS201184042 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS201567818 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2089792021 | Health Risk | Conflicting classifications of pathogenicity | Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS370838225 | Health Risk | Conflicting classifications of pathogenicity | BGN-related disorder, BGN-related disorder |
| RS782136399 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS782239175 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS782473084 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS782672273 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS782794495 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS886037825 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Meester-Loeys syndrome, X-linked spondyloepimetaphyseal dysplasia |
| RS1556993331 | Health Risk | Likely pathogenic | Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS1602981402 | Health Risk | Likely pathogenic | — |
| RS1602981441 | Health Risk | Likely pathogenic | Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS2124232156 | Health Risk | Likely pathogenic | Familial aortopathy, Meester-Loeys syndrome, Familial aortopathy |
| RS2521203628 | Health Risk | Likely pathogenic | Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS2521213722 | Health Risk | Likely pathogenic | — |
| RS2521219168 | Health Risk | Likely pathogenic | Meester-Loeys syndrome, Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS2521227899 | Health Risk | Likely pathogenic | Meester-Loeys syndrome, Meester-Loeys syndrome |
| RS782199865 | Health Risk | Likely pathogenic | X-linked spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia |
| RS879255605 | Health Risk | Likely pathogenic | X-linked spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia |
| RS886037823 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Meester-Loeys syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS782449715 | Health Risk | Pathogenic | — |
| RS879255604 | Health Risk | Pathogenic | X-linked spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia |
| RS1556992691 | Health Risk | Pathogenic/Likely pathogenic | Meester-Loeys syndrome, Meester-Loeys syndrome |