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OSBP2 (oxysterol binding protein 2)

Identity

Alias_namesOSBPL1
Alias_symbol (synonym)KIAA1664
ORP-4
ORP4
Other aliasHLM
OSBPL4
HGNC (Hugo) OSBP2
LocusID (NCBI) 23762
Atlas_Id 43794
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 30693782 and ends at 30907824 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FBXO36 (2q36.3) / OSBP2 (22q12.2)FXYD6 (11q23.3) / OSBP2 (22q12.2)LIMK2 (22q12.2) / OSBP2 (22q12.2)
OSBP2 (22q12.2) / CIB1 (15q26.1)OSBP2 (22q12.2) / MRPL43 (10q24.31)OSBP2 (22q12.2) / NIPSNAP1 (22q12.2)
FXYD6 11q23.3 / OSBP2 22q12.2LIMK2 22q12.2 / OSBP2 22q12.2OSBP2 22q12.2 / MRPL43 10q24.31

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

 


External links

Nomenclature
HGNC (Hugo)OSBP2   8504
Cards
Entrez_Gene (NCBI)OSBP2  23762  oxysterol binding protein 2
AliasesHLM; ORP-4; ORP4; OSBPL1; 
OSBPL4
GeneCards (Weizmann)OSBP2
Ensembl hg19 (Hinxton)ENSG00000184792 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184792 [Gene_View]  chr22:30693782-30907824 [Contig_View]  OSBP2 [Vega]
ICGC DataPortalENSG00000184792
TCGA cBioPortalOSBP2
AceView (NCBI)OSBP2
Genatlas (Paris)OSBP2
WikiGenes23762
SOURCE (Princeton)OSBP2
Genetics Home Reference (NIH)OSBP2
Genomic and cartography
GoldenPath hg38 (UCSC)OSBP2  -     chr22:30693782-30907824 +  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OSBP2  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblOSBP2 - 22q12.2 [CytoView hg19]  OSBP2 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBIOSBP2 [Mapview hg19]  OSBP2 [Mapview hg38]
OMIM606729   
Gene and transcription
Genbank (Entrez)AB051451 AF288741 AF323731 AK093196 AK097581
RefSeq transcript (Entrez)NM_001003812 NM_001282738 NM_001282739 NM_001282740 NM_001282741 NM_001282742 NM_030758
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OSBP2
Cluster EST : UnigeneHs.517546 [ NCBI ]
CGAP (NCI)Hs.517546
Alternative Splicing GalleryENSG00000184792
Gene ExpressionOSBP2 [ NCBI-GEO ]   OSBP2 [ EBI - ARRAY_EXPRESS ]   OSBP2 [ SEEK ]   OSBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)OSBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23762
GTEX Portal (Tissue expression)OSBP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969R2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969R2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969R2
Splice isoforms : SwissVarQ969R2
PhosPhoSitePlusQ969R2
Domaine pattern : Prosite (Expaxy)OSBP (PS01013)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Oxysterol-bd    Oxysterol-bd_CS    PH_dom-like    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)OSBP2
DMDM Disease mutations23762
Blocks (Seattle)OSBP2
SuperfamilyQ969R2
Human Protein AtlasENSG00000184792
Peptide AtlasQ969R2
HPRD09471
IPIIPI00746936   IPI00911080   IPI00877910   IPI01014439   IPI00878992   IPI01013906   IPI00878043   IPI00877892   IPI00877714   IPI00878859   IPI00878687   IPI00878335   IPI00893681   IPI00894473   
Protein Interaction databases
DIP (DOE-UCLA)Q969R2
IntAct (EBI)Q969R2
FunCoupENSG00000184792
BioGRIDOSBP2
STRING (EMBL)OSBP2
ZODIACOSBP2
Ontologies - Pathways
QuickGOQ969R2
Ontology : AmiGOprotein binding  lipid transport  spermatid development  cholesterol binding  membrane  apical dendrite  
Ontology : EGO-EBIprotein binding  lipid transport  spermatid development  cholesterol binding  membrane  apical dendrite  
NDEx NetworkOSBP2
Atlas of Cancer Signalling NetworkOSBP2
Wikipedia pathwaysOSBP2
Orthology - Evolution
OrthoDB23762
GeneTree (enSembl)ENSG00000184792
Phylogenetic Trees/Animal Genes : TreeFamOSBP2
HOVERGENQ969R2
HOGENOMQ969R2
Homologs : HomoloGeneOSBP2
Homology/Alignments : Family Browser (UCSC)OSBP2
Gene fusions - Rearrangements
Fusion : MitelmanFXYD6/OSBP2 [11q23.3/22q12.2]  [t(11;22)(q23;q12)]  
Fusion : MitelmanLIMK2/OSBP2 [22q12.2/22q12.2]  [t(22;22)(q12;q12)]  
Fusion : MitelmanOSBP2/MRPL43 [22q12.2/10q24.31]  [t(10;22)(q24;q12)]  
Fusion: TCGAFXYD6 11q23.3 OSBP2 22q12.2 LGG
Fusion: TCGALIMK2 22q12.2 OSBP2 22q12.2 BRCA
Fusion: TCGAOSBP2 22q12.2 MRPL43 10q24.31 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOSBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OSBP2
dbVarOSBP2
ClinVarOSBP2
1000_GenomesOSBP2 
Exome Variant ServerOSBP2
ExAC (Exome Aggregation Consortium)OSBP2 (select the gene name)
Genetic variants : HAPMAP23762
Genomic Variants (DGV)OSBP2 [DGVbeta]
DECIPHEROSBP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOSBP2 
Mutations
ICGC Data PortalOSBP2 
TCGA Data PortalOSBP2 
Broad Tumor PortalOSBP2
OASIS PortalOSBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOSBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOSBP2
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 OSBP2
DgiDB (Drug Gene Interaction Database)OSBP2
DoCM (Curated mutations)OSBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OSBP2 (select a term)
intoGenOSBP2
Cancer3DOSBP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606729   
Orphanet
MedgenOSBP2
Genetic Testing Registry OSBP2
NextProtQ969R2 [Medical]
TSGene23762
GENETestsOSBP2
Target ValidationOSBP2
Huge Navigator OSBP2 [HugePedia]
snp3D : Map Gene to Disease23762
BioCentury BCIQOSBP2
ClinGenOSBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23762
Chemical/Pharm GKB GenePA32823
Clinical trialOSBP2
Miscellaneous
canSAR (ICR)OSBP2 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOSBP2
EVEXOSBP2
GoPubMedOSBP2
iHOPOSBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:48:04 CEST 2017

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