Human Gene OSBPL2 (ENST00000313733.9) from GENCODE V44
  Description: Homo sapiens oxysterol binding protein like 2 (OSBPL2), transcript variant 2, mRNA. (from RefSeq NM_144498)
RefSeq Summary (NM_144498): 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].
Gencode Transcript: ENST00000313733.9
Gencode Gene: ENSG00000130703.17
Transcript (Including UTRs)
   Position: hg38 chr20:62,238,521-62,296,183 Size: 57,663 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr20:62,256,185-62,293,887 Size: 37,703 Coding Exon Count: 13 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:62,238,521-62,296,183)mRNA (may differ from genome)Protein (480 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OSBL2_HUMAN
DESCRIPTION: RecName: Full=Oxysterol-binding protein-related protein 2; Short=ORP-2; Short=OSBP-related protein 2;
FUNCTION: Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3- phosphate.
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the OSBP family.
SEQUENCE CAUTION: Sequence=BAA34492.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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: OSBPL2
Diseases sorted by gene-association score: deafness, autosomal dominant 67* (927), autosomal dominant non-syndromic sensorineural deafness type dfna* (247), deafness, autosomal dominant 1 (12)
* = Manually curated disease association

-  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: 36.86 RPKM in Brain - Cerebellum
Total median expression: 809.64 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 -79.40205-0.387 Picture PostScript Text
3' UTR -727.502296-0.317 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

Pfam Domains:
PF01237 - Oxysterol-binding protein

ModBase Predicted Comparative 3D Structure on Q9H1P3
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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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015248 sterol transporter activity
GO:0015485 cholesterol binding

Biological Process:
GO:0006699 bile acid biosynthetic process
GO:0006869 lipid transport
GO:0015918 sterol transport

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK291851 - Homo sapiens cDNA FLJ77338 complete cds, highly similar to Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 1, mRNA.
AK315576 - Homo sapiens cDNA, FLJ96652, highly similar to Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.
AK000230 - Homo sapiens cDNA FLJ20223 fis, clone COLF5032, highly similar to AB018315 Homo sapiens mRNA for KIAA0772 protein.
AK296595 - Homo sapiens cDNA FLJ58162 complete cds, highly similar to Oxysterol-binding protein-related protein 2.
AF392447 - Homo sapiens oxysterol-binding protein-like protein OSBPL2 (OSBPL2) mRNA, complete cds.
AB018315 - Homo sapiens KIAA0772 mRNA for KIAA0772 protein.
AY028168 - Homo sapiens oxysterol-binding protein-related protein 2 mRNA, complete cds.
BC000296 - Homo sapiens oxysterol binding protein-like 2, mRNA (cDNA clone MGC:8342 IMAGE:2819652), complete cds.
BC004455 - Homo sapiens oxysterol binding protein-like 2, mRNA (cDNA clone MGC:4307 IMAGE:2819652), complete cds.
BC018812 - Homo sapiens oxysterol binding protein-like 2, mRNA (cDNA clone IMAGE:2819701).
AF331963 - Homo sapiens OSBP-related protein 2 mRNA, partial cds.
CU674140 - Synthetic construct Homo sapiens gateway clone IMAGE:100018335 5' read OSBPL2 mRNA.
CR456722 - Homo sapiens full open reading frame cDNA clone RZPDo834H083D for gene OSBPL2, oxysterol binding protein-like 2; complete cds, incl. stopcodon.
AB463156 - Synthetic construct DNA, clone: pF1KA0772, Homo sapiens OSBPL2 gene for oxysterol binding protein-like 2, without stop codon, in Flexi system.
DQ891396 - Synthetic construct clone IMAGE:100004026; FLH176559.01X; RZPDo839E09122D oxysterol binding protein-like 2 (OSBPL2) gene, encodes complete protein.
DQ894575 - Synthetic construct Homo sapiens clone IMAGE:100009035; FLH176555.01L; RZPDo839E09121D oxysterol binding protein-like 2 (OSBPL2) gene, encodes complete protein.
KJ892871 - Synthetic construct Homo sapiens clone ccsbBroadEn_02265 OSBPL2 gene, encodes complete protein.
AK123598 - Homo sapiens cDNA FLJ41604 fis, clone CTONG3000707.
JD057912 - Sequence 38936 from Patent EP1572962.
JD408878 - Sequence 389902 from Patent EP1572962.
JD484958 - Sequence 465982 from Patent EP1572962.
JD524245 - Sequence 505269 from Patent EP1572962.
JD064787 - Sequence 45811 from Patent EP1572962.
JD454045 - Sequence 435069 from Patent EP1572962.
AK093592 - Homo sapiens cDNA FLJ36273 fis, clone THYMU2003124.
AK124174 - Homo sapiens cDNA FLJ42180 fis, clone THYMU2031258.
JD525663 - Sequence 506687 from Patent EP1572962.
JD420510 - Sequence 401534 from Patent EP1572962.
JD236590 - Sequence 217614 from Patent EP1572962.
JD303699 - Sequence 284723 from Patent EP1572962.
JD325748 - Sequence 306772 from Patent EP1572962.
JD404384 - Sequence 385408 from Patent EP1572962.
JD169072 - Sequence 150096 from Patent EP1572962.
JD320123 - Sequence 301147 from Patent EP1572962.
JD301627 - Sequence 282651 from Patent EP1572962.
JD111064 - Sequence 92088 from Patent EP1572962.
JD037262 - Sequence 18286 from Patent EP1572962.
JD040881 - Sequence 21905 from Patent EP1572962.
JD196397 - Sequence 177421 from Patent EP1572962.
JD438192 - Sequence 419216 from Patent EP1572962.
JD086294 - Sequence 67318 from Patent EP1572962.
JD396361 - Sequence 377385 from Patent EP1572962.
JD473085 - Sequence 454109 from Patent EP1572962.
JD115405 - Sequence 96429 from Patent EP1572962.
JD513265 - Sequence 494289 from Patent EP1572962.
JD242593 - Sequence 223617 from Patent EP1572962.
JD063766 - Sequence 44790 from Patent EP1572962.
JD108010 - Sequence 89034 from Patent EP1572962.
JD127597 - Sequence 108621 from Patent EP1572962.
JD235070 - Sequence 216094 from Patent EP1572962.
JD512846 - Sequence 493870 from Patent EP1572962.
JD256222 - Sequence 237246 from Patent EP1572962.
JD256223 - Sequence 237247 from Patent EP1572962.
JD232692 - Sequence 213716 from Patent EP1572962.
JD072504 - Sequence 53528 from Patent EP1572962.
JD056367 - Sequence 37391 from Patent EP1572962.
JD151425 - Sequence 132449 from Patent EP1572962.
JD289964 - Sequence 270988 from Patent EP1572962.
JD562768 - Sequence 543792 from Patent EP1572962.
JD293109 - Sequence 274133 from Patent EP1572962.
JD235503 - Sequence 216527 from Patent EP1572962.
JD392348 - Sequence 373372 from Patent EP1572962.
JD063720 - Sequence 44744 from Patent EP1572962.
JD379315 - Sequence 360339 from Patent EP1572962.
JD360488 - Sequence 341512 from Patent EP1572962.
JD040878 - Sequence 21902 from Patent EP1572962.
JD319061 - Sequence 300085 from Patent EP1572962.
JD323595 - Sequence 304619 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H1P3 (Reactome details) participates in the following event(s):

R-HSA-8867667 OSBPs transport 25OH-CHOL from ER membrane to plasma membrane
R-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K736, ENST00000313733.1, ENST00000313733.2, ENST00000313733.3, ENST00000313733.4, ENST00000313733.5, ENST00000313733.6, ENST00000313733.7, ENST00000313733.8, KIAA0772, NM_144498, ORP2, OSBL2_HUMAN, Q6IBT0, Q9BZB1, Q9H1P3, Q9Y4B8, uc002yck.1, uc002yck.2, uc002yck.3, uc002yck.4, uc002yck.5
UCSC ID: ENST00000313733.9
RefSeq Accession: NM_144498
Protein: Q9H1P3 (aka OSBL2_HUMAN)
CCDS: CCDS13494.1, CCDS13495.1

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