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

Gene ID: 9885, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62238521..62296183)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64029614..64087136)
105.20220307 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
  • 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. Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis. Zheng C, et al. Int J Chron Obstruct Pulmon Dis, 2021. PMID 33854310, Free PMC Article
  2. ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells. Koponen A, et al. FASEB J, 2020 Nov. PMID 32914503
  3. A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family. Wu N, et al. BMC Med Genet, 2019 Mar 20. PMID 30894143, Free PMC Article
  4. ORP2 interacts with phosphoinositides and controls the subcellular distribution of cholesterol. Koponen A, et al. Biochimie, 2019 Mar. PMID 30590084
  5. 25-hydroxycholesterol down-regulates oxysterol binding protein like 2 (OSBPL2) via the p53/SREBF2/NFYA signaling pathway. Wang Q, et al. J Steroid Biochem Mol Biol, 2019 Mar. PMID 30391516

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
    Title: ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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)).
  9. 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.
  10. data demonstrates that ORP2 binds several phosphoinositides, both PI(4)P and multiply phosphorylated species. ORP2 regulates the subcellular distribution of cholesterol dependent on its PIP-binding capacity. The interaction of ORP2 with ORP1L suggests a concerted action of the two ORPs
    Title: ORP2 interacts with phosphoinositides and controls the subcellular distribution of cholesterol.
Submit: New GeneRIF Correction See all GeneRIFs (20)

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
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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 
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 
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
  
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
  

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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NEW Try the new Transcript table

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_2023_10

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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