BMPER Chromosome 7
BMP binding endothelial regulator
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What This Gene Does
This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Cysteine rich transmembrane BMP regulators
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000164619
Associated Conditions (3)
Diaphanospondylodysostosis
Inborn genetic diseases
BMPER-related disorder
Key Variants
RS138797097
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS140264933
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS144030074
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS148867097
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS150768568
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS191957211
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS199684961
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS199800567
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS202141422
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Inborn genetic diseases, Diaphanospondylodysostosis
Health Risk
RS369009264
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Diaphanospondylodysostosis
Health Risk
RS376351419
Conflicting classifications of pathogenicity
Diaphanospondylodysostosis, Inborn genetic diseases, Diaphanospondylodysostosis
Health Risk
RS542452381
Conflicting classifications of pathogenicity
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138797097 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS140264933 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS144030074 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS148867097 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS150768568 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS191957211 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS199684961 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS199800567 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS202141422 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Inborn genetic diseases, Diaphanospondylodysostosis |
| RS369009264 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS376351419 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Inborn genetic diseases, Diaphanospondylodysostosis |
| RS542452381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS576645032 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750265350 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS754813827 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS760041868 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS781214057 | Health Risk | Conflicting classifications of pathogenicity | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS1222340958 | Health Risk | Likely pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS868447365 | Health Risk | Likely pathogenic | — |
| RS1316675443 | Health Risk | Pathogenic | — |
| RS1485433167 | Health Risk | Pathogenic | — |
| RS1785639514 | Health Risk | Pathogenic | — |
| RS1788331355 | Health Risk | Pathogenic | — |
| RS1789189854 | Health Risk | Pathogenic | — |
| RS2127973901 | Health Risk | Pathogenic | — |
| RS2128599896 | Health Risk | Pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS387906992 | Health Risk | Pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS387906993 | Health Risk | Pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS387906994 | Health Risk | Pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS559550154 | Health Risk | Pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS777026516 | Health Risk | Pathogenic | BMPER-related disorder, BMPER-related disorder |
| RS780360088 | Health Risk | Pathogenic | — |
| RS1554300601 | Health Risk | Pathogenic/Likely pathogenic | Diaphanospondylodysostosis, Diaphanospondylodysostosis |