Bmper Gene Summary [Mouse]
This gene encodes a secreted protein that contains five Von Willebrand factor type C domains and a Von Willebrand factor type D domain and a trypsin inhibitory-like domain. The encoded protein binds to bone morphogenetic proteins (BMP) and regulates their activity. Mutation of the related gene in humans causes diaphanospondylodysostosis. [provided by RefSeq, Mar 2013]
Details
| Type | Protein Coding |
| Official Symbol | Bmper |
| Official Name | BMP-binding endothelial regulator [Source:MGI Symbol;Acc:MGI:1920480] |
| Ensembl ID | ENSMUSG00000031963 |
| Bio databases IDs | |
| Aliases | BMP-binding endothelial regulator |
| Synonyms | 3110056H04Rik, BMP-binding endothelial regulator, CRIM3, CV-2, RGD1563373 |
| Species | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal Reichert's cartilage morphology
- abnormal basisphenoid bone morphology
- abnormal branching involved in lung morphogenesis
- abnormal cartilage development
- abnormal cartilage morphology
- abnormal cranium morphology
- abnormal cricoid cartilage morphology
- abnormal embryo development
- abnormal induced retinal neovascularization
- abnormal kidney morphology
- abnormal lung development
- abnormal lung saccule morphology
- abnormal metopic suture morphology
- abnormal pubic symphysis morphology
- abnormal pubis body morphology
- abnormal pubis morphology
- abnormal scapula morphology
- abnormal skeleton morphology
- abnormal temporal bone squamous part morphology
- abnormal thyroid cartilage morphology
- abnormal trachea morphology
- abnormal tracheal cartilage morphology
- abnormal tympanic ring morphology
- abnormal vertebrae development
- abnormal vertebral arch development
- abnormal vertebral arch morphology
- abnormal vertebral body development
- abnormal vertebral column morphology
- absent deltoid tuberosity
- absent retrotympanic process
- absent tracheal cartilage rings
- absent vertebral arch
- basisphenoid bone foramen
- curly tail
- decreased body length
- decreased fetal size
- decreased nephron number
- decreased renal glomerulus number
- decreased rib number
- exencephaly
- increased type II pneumocyte number
- microphthalmia
- neonatal lethality complete penetrance
- respiratory failure
- scapular bone foramen
- short tail
- small cricoid cartilage
- small interparietal bone
- small kidney
- small lung saccule
- small scapula
- small supraoccipital bone
- small thyroid cartilage
- small vertebrae
- small vertebral body
- thick lung-associated mesenchyme
- thoracic vertebral transformation
- wide metopic suture
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 mouse 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