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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OSBPL6 Gene

protein-coding   GIFtS: 50
GCID: GC02P179023

oxysterol binding protein-like 6

 Explore 1 disease affiliated with
OSBPL6 via our new
 Human Malady Compendium 
Biological research products
for OSBPL6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Oxysterol Binding Protein-Like 61 2
ORP61 2 3 5
ORP-62 3
OSBP-Related Protein 62 3
Oxysterol-Binding Protein-Related Protein 62

External Ids:    HGNC: 163881   Entrez Gene: 1148802   Ensembl: ENSG000000791567   OMIM: 6067345   UniProtKB: Q9BZF33   

Export aliases for OSBPL6 gene to outside databases

Previous GC identifers: GC02P177121 GC02P177730 GC02P179261 GC02P178884 GC02P178767 GC02P170932


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OSBPL6:
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. Transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul
2008)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OSBPL6 gene promoter:
         FOXF2   LCR-F1   Tal-1beta   RORalpha2   MEF-2A   POU2F1   IRF-7A   aMEF-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSBPL6 promoter sequence
   Search SABiosciences Chromatin IP Primers for OSBPL6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OSBPL6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q32.1   Ensembl cytogenetic band:  2q31.2   HGNC cytogenetic band: 2q32.1

OSBPL6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSBPL6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P179023:  view genomic region     (about GC identifiers)

Start:
179,059,208 bp from pter      End:
179,264,160 bp from pter
Size:
204,953 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OSBL6_HUMAN, Q9BZF3 (See protein sequence)
Recommended Name: Oxysterol-binding protein-related protein 6  
Size: 934 amino acids; 106306 Da
Sequence caution: Sequence=BAB55223.1; Type=Erroneous initiation; Sequence=BAD92135.1; Type=Erroneous initiation;
Secondary accessions: B4DTW1 C4AMC0 C4AME4 D3DPF6 D3DPF7 Q4ZG68 Q53T68 Q59H61 Q7Z4Q1 Q8N9T0 Q96SR1
Alternative splicing: 5 isoforms:  Q9BZF3-1   Q9BZF3-2   Q9BZF3-3   Q9BZF3-4   Q9BZF3-5   

Explore the universe of human proteins at neXtProt for OSBPL6: NX_Q9BZF3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BZF3

  • OSBPL6 Protein expression data from MOPED and PaxDb:    About this image 
    OSBPL6 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001188409.1  NP_001188410.1  NP_001188411.1  NP_115912.1  NP_665682.1  

    ENSEMBL proteins: 
     ENSP00000376293   ENSP00000349591   ENSP00000387248   ENSP00000190611   ENSP00000386885  
     ENSP00000318723   ENSP00000352713  

    Human Recombinant Protein Products for OSBPL6: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for OSBPL6

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA14593528
    GO:0005886plasma membrane IDA14593528
    GO:0031965nuclear membrane IDA14593528
    GO:0097038perinuclear endoplasmic reticulum IDA14593528

    OSBPL6 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    OSBPL6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR000648 Oxysterol-bd
     IPR018494 Oxysterol-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q9BZF3

    ProtoNet protein and cluster: Q9BZF3

    3 Blocks protein families:
    IPB000008 C2 domain
    IPB000648 Oxysterol-binding protein
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: OSBL6_HUMAN, Q9BZF3
    Similarity: Belongs to the OSBP family
    Similarity: Contains 1 PH domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005543phospholipid binding IEA--
         
    OSBPL6 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OSBPL6 

    miRNA
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    8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate OSBPL6 (see all 87):
    hsa-miR-140-5p hsa-miR-200a hsa-miR-519a hsa-miR-3150b-3p hsa-miR-4325 hsa-miR-3148 hsa-miR-130b hsa-miR-1298
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL6 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OSBPL6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for OSBPL6 (Q9BZF31, 3 ENSP000003187234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLK1P533503, ENSP000003000934I2D: score=2 STRING: ENSP00000300093
    ORFQ9Q2G41EBI-2372709,EBI-6248094
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport IEA--

    OSBPL6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OSBPL6
    Search CenterWatch for drugs/clinical trials and news about OSBPL6 / OSBL6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OSBPL6 gene (5 alternative transcripts): 
    NM_001201480.1  NM_001201481.1  NM_001201482.1  NM_032523.3  NM_145739.2  

    Unigene Cluster for OSBPL6:

    Oxysterol binding protein-like 6
    Hs.318775  [show with all ESTs]
    Unigene Representative Sequence: NM_001201480
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392505 ENST00000477646 ENST00000357080(uc002ulw.3) ENST00000409045
    ENST00000190611(uc002uly.3 uc002ulx.3 uc010zfe.2 uc002ulz.3 uc002uma.3)
    ENST00000409631 ENST00000315022 ENST00000477097 ENST00000359685

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OSBPL6
    8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate OSBPL6 (see all 87):
    hsa-miR-140-5p hsa-miR-200a hsa-miR-519a hsa-miR-3150b-3p hsa-miR-4325 hsa-miR-3148 hsa-miR-130b hsa-miR-1298
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OSBPL6 (see all 7)
    OriGene shRNA RFP: OSBPL6
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    Additional cDNA sequence: 

    AB208898.1 AF323728.1 AF392448.1 AF462443.1 AK027600.1 AK093902.1 AK123248.1 AK300389.1 
    BC052259.1 

    10 DOTS entries:

    DT.40267649  DT.121024106  DT.91825177  DT.303228  DT.100021622  DT.100731042  DT.75198402  DT.100740357 
    DT.75176792  DT.97802844 

    24/82 AceView cDNA sequences (see all 82):

    CA425863 AF462443 BM975406 BM129830 BM129618 AI760493 AW204786 BU674714 
    BM663950 BC052259 AK123248 NM_032523 AI821149 BG654741 CA311529 BX504092 
    Z38437 NM_145739 BX647557 BM693956 BM671369 BG574529 F10997 BM692807 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL6 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                                -                 -                                                                                         -               
    SP2:                                                  -                                                                                         -               
    SP3:                                -                 -                                         -                                               -               
    SP4:                                -                 -                                         -                             -                 -               
    SP5:                                -                 -                                   -     -                             -                                 

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for OSBPL6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OSBPL6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTAAGAAA
    OSBPL6 Expression
    About this image
    See OSBPL6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OSBPL6

    SOURCE GeneReport for Unigene cluster: Hs.318775

    UniProtKB/Swiss-Prot: OSBL6_HUMAN, Q9BZF3
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for OSBPL6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OSBPL6 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves OSBPL61 oxysterol binding protein-like 6 83.6(n)
    92.36(a)
      424130  XM_421982.3  XP_421982.2 
    lizard
    (Anolis carolinensis)
    Reptilia OSBPL66
    --
    87(a)
    1 ↔ 1
    GL343320.1(1161625-1225048)
    zebrafish
    (Danio rerio)
    Actinopterygii osbpl61 oxysterol binding protein-like 6 71.75(n)
    78.61(a)
      100004342  NM_001127405.1  NP_001120877.1 
    rice
    (Oryza sativa)
    Liliopsida AK065804.12   -- 74.35(n)    AK065804.1 


    ENSEMBL Gene Tree for OSBPL6 (if available)
    TreeFam Gene Tree for OSBPL6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OSBPL6 gene
    OSBP2  OSBPL1A2  OSBPL32  OSBPL72  OSBP22  OSBPL22  
    2 SIMAP similar genes for OSBPL6 using alignment to 5 protein entries:     OSBL6_HUMAN (see all proteins):
    OSBPL3    OSBPL7

    OSBPL6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3473 NCBI SNPs in OSBPL6 are shown (see all 3473    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908692891,2
    --179057232(+) AATCAA/GTGAGA 4 -- us2k10--------
    rs1840693651,2
    --179057262(+) CCTGAC/TGTTTA 4 -- us2k10--------
    rs1464417081,2
    --179057443(+) TTTTC-/TTTTTTCT 4 -- us2k10--------
    rs729619971,2
    C--179057452(+) TCTTTT/CTTTTT 4 -- us2k14Minor allele frequency- C:0.12NA 8
    rs2006934721,2
    --179057452(+) TCTTT-/CTTTTT 4 -- us2k10--------
    rs1152648731,2
    F--179057472(+) TGAGAG/ATCTCA 4 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1886476321,2
    --179057619(+) GCCACC/GACACC 4 -- us2k10--------
    rs3341231,2
    --179057671(+) TGTTGG/TTCAGG 4 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1133316871,2
    --179057760(+) GCGCCG/AGGCCT 4 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1929615131,2
    --179057811(+) CTCTCA/TTTTCC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for OSBPL6 (179059208 - 179264160 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for OSBPL6
         4 CNVs: 90147 90145 68205 90146

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    OSBPL6 for disorders           About GeneDecksing

    OMIM gene information: 606734    OMIM disorders: --

    1 disease for OSBPL6:    About MalaCards
    malaria

    Human Genome Epidemiology (HuGE) Navigator: OSBPL6 (1 document)

    Export disorders for OSBPL6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for OSBPL6 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with OSBPL6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The OSBP-related protein family in humans. (PubMed id 11483621)1, 2, 3 Lehto M.... Olkkonen V.M. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A family of 12 human genes containing oxysterol-binding domains. (PubMed id 11735225)1, 2 Jaworski C.J.... Rodriguez I.R. (2001)
    4. Subfamily III of mammalian oxysterol-binding protein (OSBP) homologues: the expression and intracellular localization of ORP3, ORP6, and ORP7. (PubMed id 14593528)1, 9 Lehto M....Olkkonen V.M. (2004)
    5. Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism. (PubMed id 10588946)1, 9 Laitinen S....Ikonen E. (1999)
    6. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    7. Genetic variants associated with breast size also infl uence breast cancer risk. (PubMed id 22747683)1 Eriksson N....Tung J.Y. (2012)
    8. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)
    9. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1 Svendsen J.M.... Harper J.W. (2009)
    10. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1 Maestrini E....Monaco A.P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 114880 HGNC: 16388 AceView: OSBPL6 Ensembl:ENSG00000079156 euGenes: HUgn114880
    ECgene: OSBPL6 H-InvDB: OSBPL6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OSBPL6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OSBPL6 gene:
    Search GeneIP for patents involving OSBPL6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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