| Primary Identifier | MGI:2442832 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 228983 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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). PHENOTYPE: Mice homozygous for a null allele show progressive hearing loss, abnormal cochlear development with defective cilia. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
