OSBPL2

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

OSBPL2
Identifiers
AliasesOSBPL2, ORP-2, ORP2, DFNA67, DNFA67, oxysterol binding protein like 2
External IDsOMIM: 606731 MGI: 2442832 HomoloGene: 77324 GeneCards: OSBPL2
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q13.33Start62,231,922 bp[1]
End62,296,213 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 2: 180.12 – 180.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. 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. PMID 11861666.
  7. "Entrez Gene: OSBPL2 oxysterol binding protein-like 2".

Further reading


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