OSBPL2 Gene

HGNC Family	Oxysterol binding proteins (OSBP)
Name	oxysterol binding protein-like 2
Description	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 the 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. [provided by RefSeq, Sep 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nOSBPL2, also termed ORP2, is a versatile lipid‐binding and transfer protein that plays key roles in maintaining cellular cholesterol and phosphoinositide homeostasis. It mediates the nonvesicular delivery of cholesterol to the plasma membrane in exchange for phosphatidylinositol 4,5‐bisphosphate, thereby contributing to proper membrane lipid composition. In addition, OSBPL2 binds various oxysterols and associates with lipid droplets, influencing neutral lipid metabolism, Golgi localization, and even steroid hormone production."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, OSBPL2 regulates intracellular cholesterol synthesis and cellular energy metabolism via multiple signaling pathways. Its deficiency has been shown to upregulate squalene epoxidase, leading to an accumulation of cholesterol and cholesteryl esters, while concurrently inhibiting AMPK signaling and modulating transcription factors such as p53, SREBF2, and NFYA. In hepatocytes, loss of OSBPL2 impairs Akt phosphorylation, reduces glucose uptake, glycogen synthesis and glycolysis, and disrupts actin cytoskeleton dynamics—thereby affecting cell migration, adhesion, and proliferation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFinally, genetic and transcriptomic evidence indicates that OSBPL2 function is critical for specialized tissue physiology. Mutations in OSBPL2 have been associated with autosomal dominant nonsyndromic hearing loss, likely stemming from disrupted focal adhesion and extracellular matrix dynamics in auditory cells. Furthermore, a circular RNA derived from the OSBPL2 locus (circOSBPL2) has been implicated in the pathogenesis of smoke‐related chronic obstructive pulmonary disease, broadening the spectrum of OSBPL2’s roles in human disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Saara Laitinen, Markku Lehto, Sanna Lehtonen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Lipid Res (2002)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11861666"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11861666"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Riikka Hynynen, Monika Suchanek, Johanna Spandl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OSBP-related protein 2 is a sterol receptor on lipid droplets that regulates the metabolism of neutral lipids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Lipid Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1194/jlr.M800661-JLR200"}], "href": "https://doi.org/10.1194/jlr.M800661-JLR200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19224871"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19224871"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Marion Weber-Boyvat, Henriikka Kentala, Johan Peränen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ligand-dependent localization and function of ORP-VAP complexes at membrane contact sites."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Life Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00018-014-1786-x"}], "href": "https://doi.org/10.1007/s00018-014-1786-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25420878"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25420878"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tamara Escajadillo, Hongxia Wang, Linda Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oxysterol-related-binding-protein related Protein-2 (ORP2) regulates cortisol biosynthesis and cholesterol homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Endocrinol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mce.2016.03.006"}], "href": "https://doi.org/10.1016/j.mce.2016.03.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26992564"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26992564"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Huan Wang, Qianli Ma, Yanfei Qi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "2"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": ")."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2018.11.014"}], "href": "https://doi.org/10.1016/j.molcel.2018.11.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30581148"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30581148"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Henriikka Kentala, Annika Koponen, Annukka M Kivelä, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of ORP2-knockout hepatocytes uncovers a novel function in actin cytoskeletal regulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.201700604R"}], "href": "https://doi.org/10.1096/fj.201700604R"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29092904"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29092904"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Henriikka Kentala, Annika Koponen, Helena Vihinen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OSBP-related protein-2 (ORP2): a novel Akt effector that controls cellular energy metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Life Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00018-018-2850-8"}], "href": "https://doi.org/10.1007/s00018-018-2850-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29947926"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29947926"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Quan Wang, Changsong Lin, Cui Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "25-hydroxycholesterol down-regulates oxysterol binding protein like 2 (OSBPL2) via the p53/SREBF2/NFYA signaling pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Steroid Biochem Mol Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jsbmb.2018.10.018"}], "href": "https://doi.org/10.1016/j.jsbmb.2018.10.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30391516"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30391516"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Hongshun Wang, Changsong Lin, Jun Yao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-019-1858-9"}], "href": "https://doi.org/10.1038/s41419-019-1858-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31427568"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31427568"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Guangqian Xing, Jun Yao, Bin Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2014.90"}], "href": "https://doi.org/10.1038/gim.2014.90"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25077649"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25077649"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Hairong Shi, Hongshun Wang, Jun Yao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2019.10.061"}], "href": "https://doi.org/10.1016/j.bbrc.2019.10.061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31629475"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31629475"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Kohta Takahashi, Kristiina Kanerva, Lauri Vanharanta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "2"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": " exchange."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.2020106871"}], "href": "https://doi.org/10.15252/embj.2020106871"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34124795"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34124795"}]}]}]}
Synonyms	ORP2, ORP-2, DFNA67, DNFA67
Proteins	OSBL2_HUMAN
NCBI Gene ID	9885
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

OSBPL2 has 5,939 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 121 datasets.

Click the + buttons to view associations for OSBPL2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

OSBPL2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of OSBPL2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of OSBPL2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of OSBPL2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of OSBPL2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of OSBPL2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of OSBPL2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of OSBPL2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of OSBPL2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of OSBPL2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of OSBPL2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of OSBPL2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of OSBPL2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with OSBPL2 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of OSBPL2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of OSBPL2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of OSBPL2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with OSBPL2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of OSBPL2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing OSBPL2 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of OSBPL2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing OSBPL2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing OSBPL2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with OSBPL2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with OSBPL2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of OSBPL2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with OSBPL2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with OSBPL2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of OSBPL2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by OSBPL2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving OSBPL2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with OSBPL2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with OSBPL2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with OSBPL2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with OSBPL2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with OSBPL2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at OSBPL2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of OSBPL2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of OSBPL2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing OSBPL2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with OSBPL2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.