Version: 8.0.0Date: Tue Jan 28 2025
Gene
BMP4
- Species
- Homo sapiens
- Symbol
- BMP4
- Name
- bone morphogenetic protein 4
- Synonyms
- BMP-2B
- BMP-4
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including BMP receptor binding activity; co-receptor binding activity; and receptor ligand activity. Involved in several processes, including negative regulation of cell population proliferation; regulation of animal organ morphogenesis; and regulation of biosynthetic process. Acts upstream of or within several processes, including positive regulation of osteoblast differentiation; regulation of transcription by RNA polymerase II; and respiratory system development. Located in extracellular space. Implicated in several diseases, including CAKUT (multiple); cleft lip; orofacial cleft 11; ossification of the posterior longitudinal ligament of spine; and syndromic microphthalmia 6. Biomarker of several diseases, including Barrett's esophagus; carcinoma (multiple); eye disease (multiple); myositis ossificans; and progressive osseous heteroplasia.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11848
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr14:53949736...53958761 - (9.03 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.