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

    Gene ID: 23762, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

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

      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:40109
      PH; PH domain
      pfam01237
      Location:356730
      Oxysterol_BP; Oxysterol-binding protein
      cl17171
      Location:50115
      PH-like; Pleckstrin homology-like domain
    2. NM_001282739.2NP_001269668.1  oxysterol-binding protein 2 isoform d

      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:185280
      PH_OSBP_ORP4; Human Oxysterol binding protein and OSBP-related protein 4 Pleckstrin homology (PH) domain
      pfam00169
      Location:186274
      PH; PH domain
      pfam01237
      Location:521895
      Oxysterol_BP; Oxysterol-binding protein
    3. NM_001282740.2NP_001269669.1  oxysterol-binding protein 2 isoform e

      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:155529
      Oxysterol_BP; Oxysterol-binding protein
    4. NM_001282741.2NP_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:264639
      Oxysterol_BP; Oxysterol-binding protein
    5. NM_001282742.2NP_001269671.1  oxysterol-binding protein 2 isoform g

      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:66440
      Oxysterol_BP; Oxysterol-binding protein
    6. NM_030758.4NP_110385.1  oxysterol-binding protein 2 isoform a

      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:185280
      PH_OSBP_ORP4; Human Oxysterol binding protein and OSBP-related protein 4 Pleckstrin homology (PH) domain
      pfam00169
      Location:186274
      PH; PH domain
      pfam01237
      Location:522896
      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.