BMP4 Chromosome 14
Bone morphogenetic protein 4
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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. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Bone morphogenetic proteins
Locus Type
gene with protein product
Location
14q22.2
Ensembl
ENSG00000125378
Associated Conditions (8)
Microphthalmia with brain and digit anomalies
Orofacial cleft 11
Intellectual disability
BMP4-related disorder
See cases
Inborn genetic diseases
Congenital heart disease
Irido-corneo-trabecular dysgenesis
Key Variants
RS1064796998
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies
Health Risk
RS121912767
Conflicting classifications of pathogenicity
Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Intellectual disability
Health Risk
RS1377644626
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies
Health Risk
RS140590144
Conflicting classifications of pathogenicity
Orofacial cleft 11, Microphthalmia with brain and digit anomalies, BMP4-related disorder
Health Risk
RS140920120
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases
Health Risk
RS143687498
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies
Health Risk
RS144556455
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies
Health Risk
RS1460775726
Conflicting classifications of pathogenicity
Orofacial cleft 11, Microphthalmia with brain and digit anomalies, BMP4-related disorder
Health Risk
RS150746317
Conflicting classifications of pathogenicity
Inborn genetic diseases, BMP4-related disorder, Microphthalmia with brain and digit anomalies
Health Risk
RS182373336
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies
Health Risk
RS200671094
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies
Health Risk
RS370847935
Conflicting classifications of pathogenicity
Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796998 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS121912767 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Intellectual disability |
| RS1377644626 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS140590144 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, BMP4-related disorder |
| RS140920120 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases |
| RS143687498 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS144556455 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS1460775726 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, BMP4-related disorder |
| RS150746317 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BMP4-related disorder, Microphthalmia with brain and digit anomalies |
| RS182373336 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS200671094 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS370847935 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases |
| RS371239780 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, BMP4-related disorder |
| RS373924774 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11 |
| RS374037026 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11 |
| RS376960358 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, BMP4-related disorder |
| RS538330477 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11 |
| RS566882530 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases |
| RS74486266 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS74495140 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Orofacial cleft 11 |
| RS749083527 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Inborn genetic diseases |
| RS756779422 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS770493925 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS771047931 | Health Risk | Conflicting classifications of pathogenicity | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Congenital heart disease |
| RS935421961 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS967937256 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS1594792712 | Health Risk | Likely pathogenic | — |
| RS2140235147 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2502576504 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis |
| RS2502585093 | Health Risk | Likely pathogenic | Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies |
| RS2140237954 | Health Risk | Pathogenic | Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies |
| RS2140238013 | Health Risk | Pathogenic | Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies |
| RS2140238150 | Health Risk | Pathogenic | Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies |
| RS2502584237 | Health Risk | Pathogenic | See cases, See cases |
| RS2502591946 | Health Risk | Pathogenic | See cases, See cases |
| RS2502592704 | Health Risk | Pathogenic | — |
| RS387906597 | Health Risk | Pathogenic | Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Inborn genetic diseases |