OSBPL2

OSBPL2
Identifiers
Aliases	OSBPL2 , ORP-2, ORP2, DFNA67, DNFA67, oxysterol binding protein like 2
External IDs	OMIM: 606731 MGI: 2442832 HomoloGene: 77324 GeneCards: OSBPL2
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 skin of abdomen body of pancreas parotid gland blood vagina vulva external globus pallidus minor salivary gland pancreatic epithelial cell inferior olivary nucleus Top expressed in submandibular gland lacrimal gland pyloric antrum parotid gland Epithelium of stomach motor neuron left colon mucous cell of stomach substantia nigra ciliary body 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
View/Edit Human View/Edit Mouse

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000130703 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039050 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Laitinen S, Olkkonen VM, Ehnholm C, Ikonen E (Feb 2000). "Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism". J Lipid Res. 40 (12): 2204–11. doi: 10.1016/S0022-2275(20)32095-2 . PMID   10588946.
6. Laitinen S, Lehto M, Lehtonen S, Hyvarinen K, Heino S, Lehtonen E, Ehnholm C, Ikonen E, Olkkonen VM (Feb 2002). "ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism". J Lipid Res. 43 (2): 245–55. doi: 10.1016/S0022-2275(20)30166-8 . PMID   11861666.
7. "Entrez Gene: OSBPL2 oxysterol binding protein-like 2".

Further reading

• Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (5): 277–86. doi: 10.1093/dnares/5.5.277 . PMID   9872452.
• Xu Y, Liu Y, Ridgway ND, McMaster CR (2001). "Novel members of the human oxysterol-binding protein family bind phospholipids and regulate vesicle transport". J. Biol. Chem. 276 (21): 18407–14. doi: 10.1074/jbc.M101204200 . PMID   11279184.
• Lehto M, Laitinen S, Chinetti G, et al. (2001). "The OSBP-related protein family in humans". J. Lipid Res. 42 (8): 1203–13. doi: 10.1016/S0022-2275(20)31570-4 . PMID   11483621.
• Jaworski CJ, Moreira E, Li A, et al. (2002). "A family of 12 human genes containing oxysterol-binding domains". Genomics. 78 (3): 185–96. doi:10.1006/geno.2001.6663. PMID   11735225.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.