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

    Gene ID: 23762, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See OSBP2 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30693782..30907813)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31157371..31371381)
    RS_2024_09 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. Identification of a gene encoding a human oxysterol-binding protein-homologue: a potential general molecular marker for blood dissemination of solid tumors. Fournier MV, et al. Cancer Res, 1999 Aug 1. PMID 10446991
    2. 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
    3. Inhibition of HCV replication by oxysterol-binding protein-related protein 4 (ORP4) through interaction with HCV NS5B and alteration of lipid droplet formation. Park IW, et al. PLoS One, 2013. PMID 24069433, Free PMC Article
    4. Detection of messenger RNA in leukocytes or plasma of patients with chronic myeloid leukemia. Silva NH, et al. Oncol Rep, 2001 May-Jun. PMID 11295104
    5. 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

    See all (52) 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)

    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 lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
      A0AAA9YHZ8
      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
      UniProtKB/TrEMBL
      H7C428
      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_2024_08

    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

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

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