Human Gene OSBP2 (ENST00000332585.11) from GENCODE V44
  Description: Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. (from RefSeq NM_030758)
RefSeq Summary (NM_030758): 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].
Gencode Transcript: ENST00000332585.11
Gencode Gene: ENSG00000184792.16
Transcript (Including UTRs)
   Position: hg38 chr22:30,694,874-30,907,813 Size: 212,940 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr22:30,694,910-30,906,339 Size: 211,430 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:30,694,874-30,907,813)mRNA (may differ from genome)Protein (916 aa)
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-  Comments and Description Text from UniProtKB
  ID: OSBP2_HUMAN
DESCRIPTION: RecName: Full=Oxysterol-binding protein 2; AltName: Full=Oxysterol-binding protein-related protein 4; Short=ORP-4; Short=OSBP-related protein 4;
FUNCTION: Binds 7-ketocholesterol.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Expressed mainly in retina, testis, and fetal liver.
SIMILARITY: Belongs to the OSBP family.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAK56864.1; Type=Erroneous initiation; Sequence=AAK56865.1; Type=Erroneous initiation; Sequence=BAB33334.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: OSBP2
Diseases sorted by gene-association score: peroneal nerve paralysis (2), pulmonary hemosiderosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.67 RPKM in Testis
Total median expression: 122.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.1036-0.558 Picture PostScript Text
3' UTR -512.101474-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000648 - Oxysterol-bd
IPR018494 - Oxysterol-bd_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF01237 - Oxysterol-binding protein
PF00169 - PH domain

ModBase Predicted Comparative 3D Structure on Q969R2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding

Biological Process:
GO:0006869 lipid transport
GO:0007286 spermatid development

Cellular Component:
GO:0016020 membrane
GO:0097440 apical dendrite


-  Descriptions from all associated GenBank mRNAs
  AK296525 - Homo sapiens cDNA FLJ55561 complete cds, highly similar to Oxysterol-binding protein 2.
AK131374 - Homo sapiens cDNA FLJ16431 fis, clone BRACE3009127, highly similar to Homo sapiens oxysterol binding protein 2 (OSBP2).
AF323731 - Homo sapiens OSBP-related protein 4 mRNA, complete cds.
AK097581 - Homo sapiens cDNA FLJ40262 fis, clone TESTI2025846, highly similar to Homo sapiens OSBP-related protein 4 mRNA.
AK294007 - Homo sapiens cDNA FLJ60102 complete cds, highly similar to Oxysterol-binding protein 2.
BC118914 - Homo sapiens oxysterol binding protein 2, mRNA (cDNA clone MGC:134823 IMAGE:40037933), complete cds.
AB051451 - Homo sapiens KIAA1664 mRNA for KIAA1664 protein.
AB384622 - Synthetic construct DNA, clone: pF1KA1664, Homo sapiens OSBP2 gene for oxysterol-binding protein 2, complete cds, without stop codon, in Flexi system.
AF288741 - Homo sapiens oxysterol binding protein 2 (OSBP2) mRNA, complete cds.
AK093196 - Homo sapiens cDNA FLJ35877 fis, clone TESTI2008425, moderately similar to OXYSTEROL-BINDING PROTEIN.
AX747984 - Sequence 1509 from Patent EP1308459.
AK296354 - Homo sapiens cDNA FLJ59707 complete cds, highly similar to Oxysterol-binding protein 2.
AK300323 - Homo sapiens cDNA FLJ60349 complete cds, highly similar to Oxysterol-binding protein 2.
BC004340 - Homo sapiens cDNA clone IMAGE:3632045.
BC018025 - Homo sapiens cDNA clone IMAGE:4289132, partial cds.
JD189455 - Sequence 170479 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0QYG1, ENST00000332585.1, ENST00000332585.10, ENST00000332585.2, ENST00000332585.3, ENST00000332585.4, ENST00000332585.5, ENST00000332585.6, ENST00000332585.7, ENST00000332585.8, ENST00000332585.9, KIAA1664, NM_030758, O60396, ORP4, OSBP2_HUMAN, OSBPL4, Q969R2, Q9BY96, Q9BZF0, uc003aiy.1, uc003aiy.2
UCSC ID: ENST00000332585.11
RefSeq Accession: NM_030758
Protein: Q969R2 (aka OSBP2_HUMAN or OSB2_HUMAN)
CCDS: CCDS43002.1, CCDS63448.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.