Entity Details

Primary name OSBPL2
Entity type gene
Source Source Link

Details

PrimaryID9885
RefseqGeneNG_042164
SymbolOSBPL2
Nameoxysterol binding protein like 2
Chromosome20
Location20q13.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsOSBL2_HUMAN

GO terms

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GOName
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005811 lipid droplet
GO:0005829 cytosol
GO:0006699 bile acid biosynthetic process
GO:0007009 plasma membrane organization
GO:0008526 phosphatidylinositol transfer activity
GO:0015248 sterol transporter activity
GO:0015485 cholesterol binding
GO:0015914 phospholipid transport
GO:0016020 membrane
GO:0030301 cholesterol transport
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0032367 intracellular cholesterol transport
GO:0032934 sterol binding
GO:0043231 intracellular membrane-bounded organelle
GO:0051289 protein homotetramerization
GO:0120020 cholesterol transfer activity

Diseases

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Disease IDSourceNameDescription
616340 OMIMDeafness, autosomal dominant, 67 (DFNA67)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.