Osbpl2 Gene Summary [Mouse]
Predicted to enable cholesterol binding activity; lipid transfer activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in regulation of presynaptic cytosolic calcium ion concentration. Is active in glutamatergic synapse and presynaptic active zone cytoplasmic component. Is expressed in several structures, including central nervous system; genitourinary system; heart; immune system; and lung. Used to study autosomal dominant nonsyndromic deafness 67. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 67. Orthologous to human OSBPL2 (oxysterol binding protein like 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Osbpl2 |
| Official Name | oxysterol binding protein-like 2 [Source:MGI Symbol;Acc:MGI:2442832] |
| Ensembl ID | ENSMUSG00000039050 |
| Bio databases IDs | |
| Aliases | oxysterol binding protein-like 2 |
| Synonyms | C130070J12Rik, DFNA67, DNFA67, FLJ44790, ORP-2, oxysterol binding protein-like 2 |
| 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 Osbpl2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- cholesterol binding
- phosphatidylinositol-4,5-bisphosphate binding
- phosphatidylinositol transporter
- protein binding
- Oxysterol-binding protein
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant deafness type 67
- progressive hearing impairment
- bipolar disorder
- familial nonsyndromic hearing impairment
- habitual abortion
- hereditary age-related sensorineural hearing loss
regulated by
- PDGF-BB
- 22(R)-hydroxycholesterol
- ELAVL1
role in cell
- growth
- expression in
- ciliogenesis
- hydrolysis in
- ciliogenesis in
- transcytosis
- organization
- esterification in
- enrichment in
- priming
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- kinocilia
- glutaminergic synapse
- cilia
- perinuclear region
- Golgi Apparatus
- lipid droplets
- cytosol
- cytoplasmic face of plasma membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Osbpl2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- plasma membrane organization
- regulation of synaptic vesicle priming
- protein homotetramerization
- phospholipid transport
- intracellular cholesterol transport
- cholesterol transport
- bile acid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- lipid particle
- perinuclear endoplasmic reticulum
- cytosol
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- cholesterol binding
- phosphatidylinositol transporter activity