OSBPL2

Oxysterol-binding protein-related protein 2 is a protein that in humans is encoded by the OSBPL2 gene.^[5][6][7]

OSBPL2
Identifiers
Aliases	OSBPL2, ORP-2, ORP2, DFNA67, DNFA67, oxysterol binding protein like 2
External IDs	OMIM: 606731; MGI: 2442832; HomoloGene: 77324; GeneCards: OSBPL2; OMA:OSBPL2 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 62,231,922 bp[1] End 62,296,213 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H4 Start 179,761,099 bp[2] End 179,804,473 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus skin of leg skin of abdomen body of pancreas parotid gland right hemisphere of cerebellum buccal mucosa cell mucosa of pharynx blood gingival epithelium Top expressed in transitional epithelium of urinary bladder submandibular gland lacrimal gland pyloric antrum parotid gland epithelium of stomach motor neuron left colon mucous cell of stomach substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cholesterol binding lipid binding protein binding sterol transporter activity sterol binding Cellular component cytosol membrane intracellular membrane-bounded organelle Biological process lipid transport bile acid biosynthetic process sterol transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9885 228983 Ensembl ENSG00000130703 ENSMUSG00000039050 UniProt Q9H1P3 Q8BX94 RefSeq (mRNA) NM_001001691 NM_001278649 NM_014835 NM_144498 NM_001363878 NM_144500 RefSeq (protein) NP_001265578 NP_055650 NP_653081 NP_001350807 NP_653083 Location (UCSC) Chr 20: 62.23 – 62.3 Mb Chr 2: 179.76 – 179.8 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described.^[7]