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    OSBPL2 oxysterol binding protein like 2 [ Homo sapiens (human) ]

    Gene ID: 9885, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OSBPL2provided by HGNC
    Official Full Name
    oxysterol binding protein like 2provided by HGNC
    Primary source
    HGNC:HGNC:15761
    See related
    Ensembl:ENSG00000130703 MIM:606731; AllianceGenome:HGNC:15761
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ORP2; ORP-2; DFNA67; DNFA67
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 12.0), esophagus (RPKM 9.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OSBPL2 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62238521..62296183)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64029614..64087136)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (60813577..60871239)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60803162-60804062 Neighboring gene uncharacterized LOC105369209 Neighboring gene histamine receptor H3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60814402-60815326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60818849-60819457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60819458-60820065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60831784-60832284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60853989-60854489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60880842-60881345 Neighboring gene ADRM1 26S proteasome ubiquitin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13108 Neighboring gene Sharpr-MPRA regulatory region 11098 Neighboring gene laminin subunit alpha 5 Neighboring gene microRNA 4758

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. Wang Y, et al. Biochim Biophys Acta Mol Basis Dis, 2024 Jun. PMID 38701954
    2. ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism. Laitinen S, et al. J Lipid Res, 2002 Feb. PMID 11861666
    3. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. Xing G, et al. Genet Med, 2015 Mar. PMID 25077649
    4. Oxysterol-related-binding-protein related Protein-2 (ORP2) regulates cortisol biosynthesis and cholesterol homeostasis. Escajadillo T, et al. Mol Cell Endocrinol, 2016 May 15. PMID 26992564, Free PMC Article
    5. Analysis of ORP2-knockout hepatocytes uncovers a novel function in actin cytoskeletal regulation. Kentala H, et al. FASEB J, 2018 Mar. PMID 29092904

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
      Title: OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
    2. ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P2 exchange.
      Title: ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P(2) exchange.
    3. Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis.
      Title: Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis.
    4. ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
      Title: ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
    5. Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.
      Title: Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.
    6. It identified novel pathways modulated by OSBPL2 orthologues, providing new insight into the mechanism of hearing loss induced by OSBPL2 deficiency.
      Title: Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues.
    7. OSBPL2 deficiency upregulates SQLE expression and increases the accumulation of cholesterol and cholesteryl ester by suppressing AMPK signalling, which provides new evidence of the connection between OSBPL2 and cholesterol synthesis.
      Title: OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway.
    8. Whole genome sequencing identified a novel pathogenic frameshift mutation, a two-nucleotide deletion, in OSBPL2 (c.158_159delAA) as the pathogenic variant for deafness in a Mongolian family. This finding expands the mutational spectrum of OSBPL2 and contributes to the pathogenic variant list in genetic counseling for deafness screening.
      Title: A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
    9. ORP2 regulates the levels of both cholesterol and PI(4,5)P2 on the plasma membrane, and ORP2 forms a tetramer to efficiently transfer PI(4,5)P2.
      Title: ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P(2)).
    10. 25-Hydroxycholesterol down-regulates the expression of OSBPL2 in the HeLa cells. 25-hydroxycholesterol down-regulates OSBPL2 via the p53/SREBP2/NFYA signaling pathway.
      Title: 25-hydroxycholesterol down-regulates oxysterol binding protein like 2 (OSBPL2) via the p53/SREBF2/NFYA signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant nonsyndromic hearing loss 67
    MedGen: C4084712 OMIM: 616340 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4307, MGC8342, FLJ20223, FLJ36273, FLJ44790, KIAA0772

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cholesterol transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylinositol transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sterol transfer activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phospholipid transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of presynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle priming IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with lipid droplet IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in perinuclear endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynaptic active zone cytoplasmic component IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    oxysterol-binding protein-related protein 2
    Names
    OSBP-related protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042164.1 RefSeqGene

      Range
      5037..62699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278649.3 → NP_001265578.1  oxysterol-binding protein-related protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the internal exons, compared to variant 2, and initiates translation at a downstream in-frame start codon. exons and contains another compared to variant 2. The resulting isoform (3) is shorter at the N-terminus and has a distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AK296595, AL354836, BF507780, DA301911
      Consensus CDS
      CCDS63323.1
      UniProtKB/TrEMBL
      B4DKJ8, E7ET92
      Related
      ENSP00000495166.1, ENST00000645520.1
      Conserved Domains (1) summary
      pfam01237
      Location:1 → 283
      Oxysterol_BP; Oxysterol-binding protein

    2. NM_001363878.2 → NP_001350807.1  oxysterol-binding protein-related protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AF392447, AL354836, BF507780, DA913312
      Consensus CDS
      CCDS86966.1
      UniProtKB/TrEMBL
      A0A2R8YD49, A0A2R8YDU7
      Related
      ENSP00000494921.1, ENST00000645442.1
      Conserved Domains (1) summary
      pfam01237
      Location:1 → 372
      Oxysterol_BP; Oxysterol-binding protein

    3. NM_014835.5 → NP_055650.1  oxysterol-binding protein-related protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055650.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 2. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 2.
      Source sequence(s)
      AK291851, AL354836, BF507780
      Consensus CDS
      CCDS13494.1
      UniProtKB/TrEMBL
      B2RDK3
      Related
      ENSP00000350755.2, ENST00000358053.3
      Conserved Domains (1) summary
      pfam01237
      Location:63 → 452
      Oxysterol_BP; Oxysterol-binding protein

    4. NM_144498.4 → NP_653081.1  oxysterol-binding protein-related protein 2 isoform 2

      See identical proteins and their annotated locations for NP_653081.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AF392447, AL354836, BF507780, DA301911
      Consensus CDS
      CCDS13495.1
      UniProtKB/Swiss-Prot
      A8K736, Q6IBT0, Q9BZB1, Q9H1P3, Q9Y4B8
      UniProtKB/TrEMBL
      B2RDK3
      Related
      ENSP00000316649.3, ENST00000313733.9
      Conserved Domains (1) summary
      pfam01237
      Location:75 → 464
      Oxysterol_BP; Oxysterol-binding protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      62238521..62296183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      64029614..64087136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001001691.1: Suppressed sequence

      Description
      NM_001001691.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1P3.1 GenPept UniProtKB/Swiss-Prot:Q9H1P3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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