BMPER Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | BMPER |
| Official Name | BMP binding endothelial regulator [Source:HGNC Symbol;Acc:HGNC:24154] |
| Ensembl ID | ENSG00000164619 |
| Bio databases IDs | |
| Aliases | BMP binding endothelial regulator, crossveinless-2 |
| Synonyms | 3110056H04Rik, BMP-binding endothelial regulator, CRIM3, CV-2, RGD1563373 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BMPER often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Trypsin Inhibitor like cysteine rich domain
- von Willebrand factor type C domain
- trypsin inhibitor-like cysteine rich domain
- von Willebrand factor type D domain
- protein binding
- von Willebrand factor (vWF) type D domain
- C8 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- Alzheimer disease
- major depression
- diaphanospondylodysostosis
- asthma
- hyperinsulinism
- bronchopulmonary dysplasia
- obesity
- androgenic alopecia
- hyperglycemia
role in cell
- activation in
- differentiation
- expression in
- phosphorylation in
- proliferation
- formation in
- inhibition in
- mineralization
- adhesion
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi Apparatus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BMPER gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endothelial cell activation
- regulation of endothelial cell migration
- inner ear development
- regulation of protein localization
- SMAD protein signal transduction
- regulation of angiogenesis
- blood vessel endothelial cell proliferation involved in sprouting angiogenesis
- negative regulation of BMP signaling pathway
- blood vessel development
- ureteric bud development
- BMP signaling pathway
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of SMAD protein import into nucleus
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular matrix