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

Gene ID: 23762, updated on 23-Nov-2021

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
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

See OSBP2 in Genome Data Viewer
Location:
22q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (30693782..30907813)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31089769..31303800)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene transcobalamin 2 Neighboring gene solute carrier family 35 member E4 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene dual specificity phosphatase 18 Neighboring gene microRNA 3200 Neighboring gene Sharpr-MPRA regulatory region 14933 Neighboring gene OSBP2 intron CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC105372994 Neighboring gene origin of replication in OSBP2 Neighboring gene uncharacterized LOC107985544 Neighboring gene eukaryotic translation initiation factor 4H pseudogene 2 Neighboring gene MORC2 antisense RNA 1 Neighboring gene MORC family CW-type zinc finger 2 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

Associated conditions

Description Tests
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
 
involved_in sterol transport 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
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in perinuclear endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_001282738.2NP_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/Swiss-Prot
    Q969R2
    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

    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/Swiss-Prot
    Q969R2
    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

    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/Swiss-Prot
    Q969R2
    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/Swiss-Prot
    Q969R2
    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

    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/Swiss-Prot
    Q969R2
    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

    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
    Q969R2
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    30693782..30907813
    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.
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