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OSBPL8 (oxysterol binding protein like 8)

Identity

Alias_namesoxysterol binding protein-like 8
Alias_symbol (synonym)OSBP10
ORP8
MST120
MSTP120
Other alias
HGNC (Hugo) OSBPL8
LocusID (NCBI) 114882
Atlas_Id 55260
Location 12q21.2  [Link to chromosome band 12q21]
Location_base_pair Starts at 76351798 and ends at 76559809 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CHFR (12q24.33) / OSBPL8 (12q21.2)CPSF6 (12q15) / OSBPL8 (12q21.2)FRS2 (12q15) / OSBPL8 (12q21.2)
OSBPL8 (12q21.2) / MINPP1 (10q23.2)OSBPL8 (12q21.2) / OSBPL8 (12q21.2)OSBPL8 (12q21.2) / PTPRR (12q15)
OSBPL8 (12q21.2) / RAB3IP (12q15)OSBPL8 (12q21.2) / TSHZ2 (20q13.2)OSBPL8 (12q21.2) / TSPAN8 (12q21.1)
OSBPL8 (12q21.2) / ZMYM4 (1p34.3)CHFR 12q24.33 / OSBPL8 12q21.2CPSF6 12q15 / OSBPL8 12q21.2
FRS2 12q15 / OSBPL8 12q21.2OSBPL8 12q21.2 / PTPRR 12q15OSBPL8 12q21.2 / RAB3IP 12q15
OSBPL8 12q21.2 / TSHZ2 20q13.2OSBPL8 12q21.2 / TSPAN8 12q21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(12;12)(q15;q21) CPSF6/OSBPL8
t(12;12)(q15;q21) FRS2/OSBPL8
t(12;12)(q15;q21) OSBPL8/PTPRR
t(12;12)(q15;q21) OSBPL8/RAB3IP
OSBPL8/TSPAN8 (12q21)
t(12;12)(q21;q24) CHFR/OSBPL8
t(12;20)(q21;q13) OSBPL8/TSHZ2


External links

Nomenclature
HGNC (Hugo)OSBPL8   16396
Cards
Entrez_Gene (NCBI)OSBPL8  114882  oxysterol binding protein like 8
AliasesMST120; MSTP120; ORP8; OSBP10
GeneCards (Weizmann)OSBPL8
Ensembl hg19 (Hinxton)ENSG00000091039 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091039 [Gene_View]  ENSG00000091039 [Sequence]  chr12:76351798-76559809 [Contig_View]  OSBPL8 [Vega]
ICGC DataPortalENSG00000091039
TCGA cBioPortalOSBPL8
AceView (NCBI)OSBPL8
Genatlas (Paris)OSBPL8
WikiGenes114882
SOURCE (Princeton)OSBPL8
Genetics Home Reference (NIH)OSBPL8
Genomic and cartography
GoldenPath hg38 (UCSC)OSBPL8  -     chr12:76351798-76559809 -  12q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OSBPL8  -     12q21.2   [Description]    (hg19-Feb_2009)
EnsemblOSBPL8 - 12q21.2 [CytoView hg19]  OSBPL8 - 12q21.2 [CytoView hg38]
Mapping of homologs : NCBIOSBPL8 [Mapview hg19]  OSBPL8 [Mapview hg38]
OMIM606736   
Gene and transcription
Genbank (Entrez)AB040884 AF173895 AF323730 AF392452 AK055835
RefSeq transcript (Entrez)NM_001003712 NM_001319652 NM_001319653 NM_001319655 NM_020841
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OSBPL8
Cluster EST : UnigeneHs.430849 [ NCBI ]
CGAP (NCI)Hs.430849
Alternative Splicing GalleryENSG00000091039
Gene ExpressionOSBPL8 [ NCBI-GEO ]   OSBPL8 [ EBI - ARRAY_EXPRESS ]   OSBPL8 [ SEEK ]   OSBPL8 [ MEM ]
Gene Expression Viewer (FireBrowse)OSBPL8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114882
GTEX Portal (Tissue expression)OSBPL8
Human Protein AtlasENSG00000091039-OSBPL8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZF1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZF1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZF1
Splice isoforms : SwissVarQ9BZF1
PhosPhoSitePlusQ9BZF1
Domaine pattern : Prosite (Expaxy)OSBP (PS01013)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)OSBP_sf    Oxysterol-bd    Oxysterol-bd_CS    PH-like_dom_sf    PH_domain   
Domain families : Pfam (Sanger)Oxysterol_BP (PF01237)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam01237    pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)OSBPL8
DMDM Disease mutations114882
Blocks (Seattle)OSBPL8
PDB (SRS)1V88    5U77    5U78   
PDB (PDBSum)1V88    5U77    5U78   
PDB (IMB)1V88    5U77    5U78   
PDB (RSDB)1V88    5U77    5U78   
Structural Biology KnowledgeBase1V88    5U77    5U78   
SCOP (Structural Classification of Proteins)1V88    5U77    5U78   
CATH (Classification of proteins structures)1V88    5U77    5U78   
SuperfamilyQ9BZF1
Human Protein Atlas [tissue]ENSG00000091039-OSBPL8 [tissue]
Peptide AtlasQ9BZF1
HPRD09478
IPIIPI00394737   IPI00939864   IPI00163644   IPI00384913   IPI01009034   IPI01021013   IPI01021453   IPI01021296   IPI01020811   IPI01021222   IPI01021086   IPI01021514   IPI01022497   IPI00873898   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZF1
IntAct (EBI)Q9BZF1
FunCoupENSG00000091039
BioGRIDOSBPL8
STRING (EMBL)OSBPL8
ZODIACOSBPL8
Ontologies - Pathways
QuickGOQ9BZF1
Ontology : AmiGOphosphatidylserine binding  phospholipid transporter activity  phospholipid transporter activity  endoplasmic reticulum membrane  cytosol  cytosol  lipid binding  negative regulation of sequestering of triglyceride  sterol transporter activity  cholesterol binding  cholesterol binding  phospholipid transport  phospholipid transport  sterol transport  membrane  membrane  integral component of membrane  negative regulation of cell migration  nuclear membrane  activation of protein kinase B activity  sterol binding  phosphatidylserine acyl-chain remodeling  intracellular membrane-bounded organelle  fat cell differentiation  positive regulation of glucose import  positive regulation of insulin receptor signaling pathway  positive regulation of protein kinase B signaling  phosphatidylinositol-4-phosphate binding  protein localization to nuclear pore  
Ontology : EGO-EBIphosphatidylserine binding  phospholipid transporter activity  phospholipid transporter activity  endoplasmic reticulum membrane  cytosol  cytosol  lipid binding  negative regulation of sequestering of triglyceride  sterol transporter activity  cholesterol binding  cholesterol binding  phospholipid transport  phospholipid transport  sterol transport  membrane  membrane  integral component of membrane  negative regulation of cell migration  nuclear membrane  activation of protein kinase B activity  sterol binding  phosphatidylserine acyl-chain remodeling  intracellular membrane-bounded organelle  fat cell differentiation  positive regulation of glucose import  positive regulation of insulin receptor signaling pathway  positive regulation of protein kinase B signaling  phosphatidylinositol-4-phosphate binding  protein localization to nuclear pore  
NDEx NetworkOSBPL8
Atlas of Cancer Signalling NetworkOSBPL8
Wikipedia pathwaysOSBPL8
Orthology - Evolution
OrthoDB114882
GeneTree (enSembl)ENSG00000091039
Phylogenetic Trees/Animal Genes : TreeFamOSBPL8
HOVERGENQ9BZF1
HOGENOMQ9BZF1
Homologs : HomoloGeneOSBPL8
Homology/Alignments : Family Browser (UCSC)OSBPL8
Gene fusions - Rearrangements
Fusion : MitelmanCHFR/OSBPL8 [12q24.33/12q21.2]  [t(12;12)(q21;q24)]  
Fusion : MitelmanCPSF6/OSBPL8 [12q15/12q21.2]  [t(12;12)(q15;q21)]  
Fusion : MitelmanFRS2/OSBPL8 [12q15/12q21.2]  [t(12;12)(q15;q21)]  
Fusion : MitelmanOSBPL8/PTPRR [12q21.2/12q15]  [t(12;12)(q15;q21)]  
Fusion : MitelmanOSBPL8/RAB3IP [12q21.2/12q15]  [t(12;12)(q15;q21)]  
Fusion : MitelmanOSBPL8/TSHZ2 [12q21.2/20q13.2]  [t(12;20)(q21;q13)]  
Fusion : MitelmanOSBPL8/TSPAN8 [12q21.2/12q21.1]  [t(12;12)(q21;q21)]  
Fusion PortalCHFR 12q24.33 OSBPL8 12q21.2 BRCA
Fusion PortalCPSF6 12q15 OSBPL8 12q21.2 BRCA
Fusion PortalFRS2 12q15 OSBPL8 12q21.2 BRCA
Fusion PortalOSBPL8 12q21.2 PTPRR 12q15 BRCA
Fusion PortalOSBPL8 12q21.2 RAB3IP 12q15 BRCA
Fusion PortalOSBPL8 12q21.2 TSHZ2 20q13.2 BRCA
Fusion PortalOSBPL8 12q21.2 TSPAN8 12q21.1 PRAD
Fusion : QuiverOSBPL8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOSBPL8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OSBPL8
dbVarOSBPL8
ClinVarOSBPL8
1000_GenomesOSBPL8 
Exome Variant ServerOSBPL8
ExAC (Exome Aggregation Consortium)ENSG00000091039
GNOMAD BrowserENSG00000091039
Varsome BrowserOSBPL8
Genetic variants : HAPMAP114882
Genomic Variants (DGV)OSBPL8 [DGVbeta]
DECIPHEROSBPL8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOSBPL8 
Mutations
ICGC Data PortalOSBPL8 
TCGA Data PortalOSBPL8 
Broad Tumor PortalOSBPL8
OASIS PortalOSBPL8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOSBPL8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOSBPL8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch OSBPL8
DgiDB (Drug Gene Interaction Database)OSBPL8
DoCM (Curated mutations)OSBPL8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OSBPL8 (select a term)
intoGenOSBPL8
Cancer3DOSBPL8(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606736   
Orphanet
DisGeNETOSBPL8
MedgenOSBPL8
Genetic Testing Registry OSBPL8
NextProtQ9BZF1 [Medical]
TSGene114882
GENETestsOSBPL8
Target ValidationOSBPL8
Huge Navigator OSBPL8 [HugePedia]
snp3D : Map Gene to Disease114882
BioCentury BCIQOSBPL8
ClinGenOSBPL8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114882
Chemical/Pharm GKB GenePA32832
Clinical trialOSBPL8
Miscellaneous
canSAR (ICR)OSBPL8 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOSBPL8
EVEXOSBPL8
GoPubMedOSBPL8
iHOPOSBPL8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:27:56 CET 2018

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