BMP2 Chromosome 20
Bone morphogenetic protein 2
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What This Gene Does
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, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Bone morphogenetic proteins
Locus Type
gene with protein product
Location
20p12.3
Ensembl
ENSG00000125845
Associated Conditions (11)
BMP2-related disorder
Inborn genetic diseases
Short stature
facial dysmorphism
and skeletal anomalies with or without cardiac anomalies 1
and skeletal anomalies with or without cardiac anomalies
Type A2 brachydactyly
Dextro-looped transposition of the great arteries
Ventricular septal defect 1
Atrial septal defect 1
Craniosynostosis 7
Key Variants
RS143654141
Conflicting classifications of pathogenicity
Health Risk
RS147542801
Conflicting classifications of pathogenicity
Health Risk
RS149465465
Conflicting classifications of pathogenicity
BMP2-related disorder, BMP2-related disorder
Health Risk
RS201118225
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1236079340
Likely pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
Health Risk
RS1555785715
Likely pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Health Risk
RS1555786156
Likely pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Health Risk
RS1600173481
Likely pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Health Risk
RS1986549885
Likely pathogenic
Health Risk
RS2514427113
Likely pathogenic
BMP2-related disorder, BMP2-related disorder
Health Risk
RS2514530688
Likely pathogenic
BMP2-related disorder, BMP2-related disorder
Health Risk
RS1197846053
Pathogenic
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143654141 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147542801 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149465465 | Health Risk | Conflicting classifications of pathogenicity | BMP2-related disorder, BMP2-related disorder |
| RS201118225 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1236079340 | Health Risk | Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| RS1555785715 | Health Risk | Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
| RS1555786156 | Health Risk | Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
| RS1600173481 | Health Risk | Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
| RS1986549885 | Health Risk | Likely pathogenic | — |
| RS2514427113 | Health Risk | Likely pathogenic | BMP2-related disorder, BMP2-related disorder |
| RS2514530688 | Health Risk | Likely pathogenic | BMP2-related disorder, BMP2-related disorder |
| RS1197846053 | Health Risk | Pathogenic | — |
| RS1343341933 | Health Risk | Pathogenic | — |
| RS1464127693 | Health Risk | Pathogenic | — |
| RS1555786145 | Health Risk | Pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| RS1600170070 | Health Risk | Pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| RS2122376439 | Health Risk | Pathogenic | — |
| RS2122377023 | Health Risk | Pathogenic | — |
| RS2122390899 | Health Risk | Pathogenic | — |
| RS2514426566 | Health Risk | Pathogenic | Type A2 brachydactyly, Short stature, facial dysmorphism |
| RS2514426884 | Health Risk | Pathogenic | — |
| RS2514427047 | Health Risk | Pathogenic | Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries |
| RS2514427081 | Health Risk | Pathogenic | Ventricular septal defect 1, Ventricular septal defect 1 |
| RS2514427148 | Health Risk | Pathogenic | Atrial septal defect 1, Atrial septal defect 1 |
| RS2514530484 | Health Risk | Pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| RS1057523275 | Health Risk | Pathogenic/Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
| RS1600173184 | Health Risk | Pathogenic/Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
| RS2514426253 | Health Risk | Pathogenic/Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| RS2514426680 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS886043711 | Health Risk | Pathogenic/Likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| RS1884302 | Health Risk | risk factor | Craniosynostosis 7, Craniosynostosis 7 |