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FLASH GENE
Symbol OSBPL2 contributors: mct - updated : 30-01-2020
HGNC name oxysterol binding protein-like 2
HGNC id 15761
Corresponding disease
DFNA67 deafness, autosomal dominant 67
Location 20q13.33      Physical location : 60.813.579 - 60.871.269
Synonym name
  • oxysterol-binding protein-like 2
  • oxysterol-binding protein-related protein 2
    • Synonym symbol(s) ORP2, KIAA0772, FLJ20223
    DNA
    TYPE functioning gene
    STRUCTURE 57.69 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 3938 - 468 - 2019 30391516
    14 splicing 3944 - 480 - 2019 30391516
    15 - 4064 - 388 - 2019 30391516
    13 - 3795 - 370 - 2019 30391516
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon highly
     stomach   highly
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Reproductivefemale systemovary   
     male systemtestis   
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Homo sapiens
    Hearing / Equilibriumstereocilia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a highly conserved OSBP type sterol binding domain in the C terminus
    • HOMOLOGY
    Homologene
    FAMILY oxysterol binding protein family
    CATEGORY regulatory , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    text
  • localizes at the surface of cytoplasmic lipid droplets (LDs) and at endoplasmic-reticulum-LD contact sites
    • basic FUNCTION
  • regulator of cellular sterol homeostasis and intracellular membrane trafficking
  • can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol, and involved in both cholesterol trafficking and control of endocytic membrane transport
  • is a sterol receptor present on lipid droplets (LDs)
  • role for OSBPL2 in regulating steroidogenic capacity and cholesterol homeostasis in the adrenal cortex
  • novel function of OSBPL2 as a lipid-sensing regulator of the actin cytoskeleton, with impacts on hepatocellular migration, adhesion, and proliferation
  • is a new regulatory nexus of AKT1 signaling, cellular energy metabolism, actin cytoskeletal function, cell migration, and proliferation
  • is a key regulator of both cholesterol and PI(4,5)P2 of the plasma membrane
  • regulates the subcellular distribution of cholesterol dependent on its PIP-binding capacity
  • in concert with other lipid-binding/transport proteins (LTPs), controls the subcellular distribution of cholesterol in various cell types and steroid hormone synthesis in adrenocortical cells
  • regulatory roles of OSBPL2 in cellular cholesterol biosynthesis and ROS production
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • cholesterol metabolism
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • OSBPL2 binds to liver X receptor (NR1H3) and is required for nuclear NR1H3 expression
  • OSBPL2 was found to interact with ATIC, key activator of AMPK
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA67
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    OSBPL2 deficiency upregulates SQLE expression and increases the accumulation of cholesterol and cholesteryl ester by suppressing AMPK signalling, which provides new evidence of the connection between OSBPL2 and cholesterol synthesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS