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OSBP2 oxysterol binding protein 2 [ Homo sapiens (human) ]

Gene ID: 23762, updated on 13-Apr-2024

Summary

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Official Symbol
OSBP2provided by HGNC
Official Full Name
oxysterol binding protein 2provided by HGNC
Primary source
HGNC:HGNC:8504
See related
Ensembl:ENSG00000184792 MIM:606729; AllianceGenome:HGNC:8504
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
HLM; ORP4; ORP-4; OSBPL1; OSBPL4
Summary
The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]
Expression
Broad expression in bone marrow (RPKM 10.4), testis (RPKM 8.8) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
22q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30693782..30907813)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31157371..31371381)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31089769..31303800)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31002947-31003526 Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31030490-31031194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31042177-31042759 Neighboring gene transcobalamin 2 Neighboring gene solute carrier family 35 member E4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18842 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene dual specificity phosphatase 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13616 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:31112835-31114034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13617 Neighboring gene microRNA 3200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31168653-31169152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31175847-31176347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13619 Neighboring gene Sharpr-MPRA regulatory region 14933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31206089-31206590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31217603-31218510 Neighboring gene OSBP2 intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18845 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:31225743-31226942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31259058-31259558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31259559-31260059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31264006-31264542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31264543-31265078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31268713-31269213 Neighboring gene uncharacterized LOC105372994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31273667-31274409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31274410-31275151 Neighboring gene origin of replication in OSBP2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:31281999-31282696 Neighboring gene uncharacterized LOC107985544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31288977-31289552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31289553-31290128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18846 Neighboring gene eukaryotic translation initiation factor 4H pseudogene 2 Neighboring gene MORC2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:31335586-31335801 Neighboring gene MORC family CW-type zinc finger 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13620 Neighboring gene taurine up-regulated 1

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. ORP4L is a prerequisite for the induction of T-cell leukemogenesis associated with human T-cell leukemia virus 1. Zhong W, et al. Blood, 2022 Feb 17. PMID 34797912, Free PMC Article
  2. Golgi localization of oxysterol binding protein-related protein 4L (ORP4L) is regulated by ligand binding. Pietrangelo A, et al. J Cell Sci, 2018 Jul 19. PMID 29930082
  3. ORP4L Facilitates Macrophage Survival via G-Protein-Coupled Signaling: ORP4L-/- Mice Display a Reduction of Atherosclerosis. Zhong W, et al. Circ Res, 2016 Dec 9. PMID 27729467
  4. ORP4L is essential for T-cell acute lymphoblastic leukemia cell survival. Zhong W, et al. Nat Commun, 2016 Sep 1. PMID 27581363, Free PMC Article
  5. Oxysterol-binding protein (OSBP)-related protein 4 (ORP4) is essential for cell proliferation and survival. Charman M, et al. J Biol Chem, 2014 May 30. PMID 24742681, Free PMC Article

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrated analysis of histone lysine lactylation (Kla)-specific genes suggests that NR6A1, OSBP2 and UNC119B are novel therapeutic targets for hepatocellular carcinoma.
    Title: Integrated analysis of histone lysine lactylation (Kla)-specific genes suggests that NR6A1, OSBP2 and UNC119B are novel therapeutic targets for hepatocellular carcinoma.
  2. ORP4L is a prerequisite for the induction of T-cell leukemogenesis associated with human T-cell leukemia virus 1.
    Title: ORP4L is a prerequisite for the induction of T-cell leukemogenesis associated with human T-cell leukemia virus 1.
  3. ORP4L is a cofactor of ITPR1.
    Title: ORP4L couples IP(3) to ITPR1 in control of endoplasmic reticulum calcium release.
  4. ORP4L interacts with the trans-Golgi networt in an sterol- and phosphatidylinositol 4-phosphate -dependent manner.
    Title: Golgi localization of oxysterol binding protein-related protein 4L (ORP4L) is regulated by ligand binding.
  5. This study reveals detailed mechanistic insight into the role of ORP4L in PLCbeta3 redistribution from storage within the nucleus to the plasma membrane via RAN activation and interaction with VAPA in Jurkat T-cells.
    Title: OSBP-related protein 4L promotes phospholipase Cβ3 translocation from the nucleus to the plasma membrane in Jurkat T-cells.
  6. The authors uncovered a signalling pathway operating specifically in T-cell acute lymphoblastic leukemia cells in which ORP4L mediates G protein-coupled ligand-induced PLCbeta3 activation, resulting in an increase of mitochondrial respiration for cell survival.
    Title: ORP4L is essential for T-cell acute lymphoblastic leukemia cell survival.
  7. High ORP4L expression is associated with cervical carcinoma.
    Title: Oxysterol-binding protein-related protein 4L promotes cell proliferation by sustaining intracellular Ca2+ homeostasis in cervical carcinoma cell lines.
  8. ORP4L is crucial for macrophage survival and plays a role in the development of atherosclerosis.
    Title: ORP4L Facilitates Macrophage Survival via G-Protein-Coupled Signaling: ORP4L-/- Mice Display a Reduction of Atherosclerosis.
  9. ORP4 promotes the survival of rapidly proliferating cells.
    Title: Oxysterol-binding protein (OSBP)-related protein 4 (ORP4) is essential for cell proliferation and survival.
  10. Inhibition of HCV replication by oxysterol-binding protein-related protein 4 (ORP4) through interaction with HCV NS5B and alteration of lipid droplet formation.
    Title: Inhibition of HCV replication by oxysterol-binding protein-related protein 4 (ORP4) through interaction with HCV NS5B and alteration of lipid droplet formation.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
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

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical dendrite IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
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 2
Names
OSBP-related protein 4
oxysterol binding protein-like 1
oxysterol-binding protein-related protein 4

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.

mRNA and Protein(s)

  1. NM_001282738.2 → NP_001269667.1  oxysterol-binding protein 2 isoform c

    See identical proteins and their annotated locations for NP_001269667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate in-frame splice site, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB051451, AC004542, AK296525
    Consensus CDS
    CCDS63446.1
    UniProtKB/TrEMBL
    Q6ZN50
    Related
    ENSP00000411052.2, ENST00000438716.3
    Conserved Domains (3) summary
    pfam00169
    Location:40 → 109
    PH; PH domain
    pfam01237
    Location:356 → 730
    Oxysterol_BP; Oxysterol-binding protein
    cl17171
    Location:50 → 115
    PH-like; Pleckstrin homology-like domain

  2. NM_001282739.2 → NP_001269668.1  oxysterol-binding protein 2 isoform d

    See identical proteins and their annotated locations for NP_001269668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AB051451, AC004542, AF323731, BC118914
    Consensus CDS
    CCDS63448.1
    UniProtKB/TrEMBL
    B4DFA8
    Related
    ENSP00000392080.2, ENST00000446658.6
    Conserved Domains (3) summary
    cd13284
    Location:185 → 280
    PH_OSBP_ORP4; Human Oxysterol binding protein and OSBP-related protein 4 Pleckstrin homology (PH) domain
    pfam00169
    Location:186 → 274
    PH; PH domain
    pfam01237
    Location:521 → 895
    Oxysterol_BP; Oxysterol-binding protein

  3. NM_001282740.2 → NP_001269669.1  oxysterol-binding protein 2 isoform e

    See identical proteins and their annotated locations for NP_001269669.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate in-frame splice site, compared to variant 1. It represents use of an internal promoter and initiates translation at a downstream in-frame start codon. The encoded isoform (e) is shorter than isoform a.
    Source sequence(s)
    AB051451, AC004542, AK093196
    Consensus CDS
    CCDS63450.1
    UniProtKB/TrEMBL
    H7C428
    Related
    ENSP00000385254.1, ENST00000401475.5
    Conserved Domains (1) summary
    pfam01237
    Location:155 → 529
    Oxysterol_BP; Oxysterol-binding protein

  4. NM_001282741.2 → NP_001269670.1  oxysterol-binding protein 2 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate in-frame splice site, compared to variant 1. It represents use of an internal promoter and initiates translation at an alternate start codon. The encoded isoform (f) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB051451, AC004542, AK296354
    Consensus CDS
    CCDS63449.1
    UniProtKB/TrEMBL
    A0A0A0MSB4
    Related
    ENSP00000389200.2, ENST00000437268.6
    Conserved Domains (1) summary
    pfam01237
    Location:264 → 639
    Oxysterol_BP; Oxysterol-binding protein

  5. NM_001282742.2 → NP_001269671.1  oxysterol-binding protein 2 isoform g

    See identical proteins and their annotated locations for NP_001269671.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate in-frame splice site, compared to variant 1. It represents use of an internal promoter and initiates translation at a downstream in-frame start codon. The encoded isoform (g) is shorter than isoform a.
    Source sequence(s)
    AB051451, AK300323
    Consensus CDS
    CCDS63451.1
    Related
    ENSP00000438713.1, ENST00000535268.5
    Conserved Domains (1) summary
    pfam01237
    Location:66 → 440
    Oxysterol_BP; Oxysterol-binding protein

  6. NM_030758.4 → NP_110385.1  oxysterol-binding protein 2 isoform a

    See identical proteins and their annotated locations for NP_110385.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB051451, AF323731
    Consensus CDS
    CCDS43002.1
    UniProtKB/Swiss-Prot
    B0QYG1, B4DK24, B4DKE4, B4DTR3, F5H2A3, O60396, Q0VF99, Q8NA37, Q969R2, Q9BY96, Q9BZF0
    UniProtKB/TrEMBL
    B4DFA8
    Related
    ENSP00000332576.6, ENST00000332585.11
    Conserved Domains (3) summary
    cd13284
    Location:185 → 280
    PH_OSBP_ORP4; Human Oxysterol binding protein and OSBP-related protein 4 Pleckstrin homology (PH) domain
    pfam00169
    Location:186 → 274
    PH; PH domain
    pfam01237
    Location:522 → 896
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    30693782..30907813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    31157371..31371381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003812.1: Suppressed sequence

    Description
    NM_001003812.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969R2.2 GenPept UniProtKB/Swiss-Prot:Q969R2

Gene LinkOut

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