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

Gene ID: 9885, updated on 20-Sep-2020

Summary

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
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

Genomic context

See OSBPL2 in Genome Data Viewer
Location:
20q13.33
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (62238521..62296183)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (60813541..60871269)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369209 Neighboring gene histamine receptor H3 Neighboring gene uncharacterized LOC105372707 Neighboring gene adhesion regulating molecule 1 Neighboring gene Sharpr-MPRA regulatory region 11098 Neighboring gene laminin subunit alpha 5

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
Deafness, autosomal dominant 67
MedGen: C4084712 OMIM: 616340 GeneReviews: Not available
Compare labs
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4307, MGC8342, FLJ20223, FLJ36273, FLJ44790, KIAA0772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane cholesterol transfer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
intracellular cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with lipid droplet IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
oxysterol-binding protein-related protein 2
Names
OSBP-related protein 2

NCBI Reference Sequences (RefSeq)

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..62729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278649.3NP_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:1283
    Oxysterol_BP; Oxysterol-binding protein
  2. NM_001363878.2NP_001350807.1  oxysterol-binding protein-related protein 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AF392447, AL354836, BF507780, DA913312
    Consensus CDS
    CCDS86966.1
    Related
    ENSP00000494921.1, ENST00000645442.1
    Conserved Domains (1) summary
    pfam01237
    Location:1372
    Oxysterol_BP; Oxysterol-binding protein
  3. NM_014835.5NP_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/Swiss-Prot
    Q9H1P3
    Related
    ENSP00000350755.2, ENST00000358053.3
    Conserved Domains (1) summary
    pfam01237
    Location:63452
    Oxysterol_BP; Oxysterol-binding protein
  4. NM_144498.4NP_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
    Q9H1P3
    Related
    ENSP00000316649.3, ENST00000313733.8
    Conserved Domains (1) summary
    pfam01237
    Location:75464
    Oxysterol_BP; Oxysterol-binding protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    62238521..62296183
    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.
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