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OSBPL3 Gene

protein-coding   GIFtS: 58
GCID: GC07M024836

Oxysterol Binding Protein-Like 3


(Previous symbol: OSBP3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Oxysterol Binding Protein-Like 31 2     OSBP-Related Protein 32 3
OSBP31 2 3     KIAA07043 5
ORP32 3 5     Oxysterol-Binding Protein-Related Protein 32
ORP-32 3     

External Ids:    HGNC: 163701   Entrez Gene: 260312   Ensembl: ENSG000000708827   OMIM: 6067325   UniProtKB: Q9H4L53   

Export aliases for OSBPL3 gene to outside databases

Previous GC identifers: GC07M024478 GC07M024578 GC07M024609 GC07M024804


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OSBPL3 Gene:
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. The encoded protein is involved in the regulation of cell adhesion and
organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Aug 2013)

GeneCards Summary for OSBPL3 Gene:
OSBPL3 (oxysterol binding protein-like 3) is a protein-coding gene. Diseases associated with OSBPL3 include thyroiditis, and cerebritis. GO annotations related to this gene include phospholipid binding and cholesterol binding. An important paralog of this gene is OSBPL1A.

Gene Wiki entry for OSBPL3 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSBPL3 gene promoter:
         PPAR-gamma1   MEF-2   aMEF-2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): OSBPL3 promoter sequence
   Search Chromatin IP Primers for OSBPL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OSBPL3


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

Entrez Gene cytogenetic band: 7p15   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p15.3

OSBPL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSBPL3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M024836:  view genomic region     (about GC identifiers)

Start:
24,836,158 bp from pter      End:
25,021,253 bp from pter
Size:
185,096 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 24,887,733-25,071,319     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: OSBL3_HUMAN, Q9H4L5 (See protein sequence)
Recommended Name: Oxysterol-binding protein-related protein 3  
Size: 887 amino acids; 101224 Da
Sequence caution: Sequence=BAA31679.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A4D167 A4D168 A4D169 A4D170 A4D171 A4D172 B8ZZ79 B8ZZP0 O14591 O43357
O43358 Q8N702 Q8N703 Q8N704 Q8NFH0 Q8NFH1 Q8NI12 Q8NI13 Q9BZF4 Q9UED6
Alternative splicing: 8 isoforms:  Q9H4L5-1   Q9H4L5-2   Q9H4L5-3   Q9H4L5-4   Q9H4L5-5   Q9H4L5-6   Q9H4L5-7   Q9H4L5-8   
(May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for OSBPL3: NX_Q9H4L5

Explore proteomics data for OSBPL3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55
  • Modification sites at PhosphoSitePlus

  • See OSBPL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_056365.1  NP_663160.1  NP_663161.1  NP_663162.1  

    ENSEMBL proteins: 
     ENSP00000315410   ENSP00000386429   ENSP00000379708   ENSP00000386801   ENSP00000386325  
     ENSP00000386990   ENSP00000379706   ENSP00000386953   ENSP00000407829   ENSP00000403374  
     ENSP00000411249   ENSP00000315331   ENSP00000315277   ENSP00000389779  

    OSBPL3 Human Recombinant Protein Products:

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    Novus Biologicals OSBPL3 Proteins
    Novus Biologicals OSBPL3 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for OSBPL3

    OSBPL3 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for OSBPL3

    OSBPL3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    OSBP: Oxysterol binding proteins
    PLEKH: Pleckstrin homology (PH) domain containing

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

    Graphical View of Domain Structure for InterPro Entry Q9H4L5

    ProtoNet protein and cluster: Q9H4L5

    2 Blocks protein domains:
    IPB000648 Oxysterol-binding protein
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: OSBL3_HUMAN, Q9H4L5
    Similarity: Belongs to the OSBP family
    Similarity: Contains 1 PH domain


    OSBPL3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0015485cholesterol binding IDA17428193
         
    OSBPL3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OSBPL3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OSBPL3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OSBPL3

    miRNA
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    miRTarBase miRNAs that target OSBPL3:
    hsa-mir-21-5p (MIRT030982), hsa-mir-16-5p (MIRT031915), hsa-mir-103a-3p (MIRT027159)

    Block miRNA regulation of human, mouse, rat OSBPL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OSBPL3 (see all 72):
    hsa-miR-579 hsa-miR-300 hsa-miR-3653 hsa-miR-502-3p hsa-miR-1273d hsa-miR-508-5p hsa-miR-3148 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OSBPL3
    Predesigned siRNA for gene silencing in human, mouse, rat OSBPL3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for OSBPL3

    Clone
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    OriGene clones in human, mouse for OSBPL3 (see all 25)
    OriGene ORF clones in mouse, rat for OSBPL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): OSBPL3 (NM_145321)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSBPL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSBPL3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for OSBPL3
    Browse ESI BIO Cell Lines and PureStem Progenitors for OSBPL3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum4
    nucleus4
    plasma membrane4
    golgi apparatus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    OSBPL3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OSBPL3
    Interactions:

        Search GeneGlobe Interaction Network for OSBPL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for OSBPL3 (Q9H4L51, 2, 3 ENSP000003154104) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50980 I2D: score=4 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50839 I2D: score=4 STRING: ENSP00000306330
    SFNP319472, 3MINT-3975507 I2D: score=2 
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    YWHAHQ049173, ENSP000002489754I2D: score=1 STRING: ENSP00000248975
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    OSBPL3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OSBPL3 (OSBL3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OSBPL3 gene (6 alternative transcripts): 
    NM_015550.3  NM_145320.2  NM_145321.2  NM_145322.2  NM_145323.1  NM_145324.1  

    Unigene Cluster for OSBPL3:

    Oxysterol binding protein-like 3
    Hs.520259  [show with all ESTs]
    Unigene Representative Sequence: NM_015550
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313367(uc003sxd.3 uc003sxe.3 uc003sxf.3 uc003sxg.3 uc003sxh.3 uc003sxi.3)
    ENST00000409863 ENST00000396431 ENST00000409452 ENST00000409759(uc003sxj.1)
    ENST00000487020 ENST00000409555(uc003sxk.1) ENST00000396429 ENST00000409069
    ENST00000459987 ENST00000461835 ENST00000415162 ENST00000441059 ENST00000415952
    ENST00000352860 ENST00000353930 ENST00000431825
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OSBPL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OSBPL3 (see all 72):
    hsa-miR-579 hsa-miR-300 hsa-miR-3653 hsa-miR-502-3p hsa-miR-1273d hsa-miR-508-5p hsa-miR-3148 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for OSBPL3
    Predesigned siRNA for gene silencing in human, mouse, rat OSBPL3
    Clone
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    OriGene clones in human, mouse for OSBPL3 (see all 25)
    OriGene ORF clones in mouse, rat for OSBPL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): OSBPL3 (NM_145321)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSBPL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSBPL3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for OSBPL3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL3
      QuantiTect SYBR Green Assays in human, mouse, rat OSBPL3
      QuantiFast Probe-based Assays in human, mouse, rat OSBPL3

    Additional mRNA sequence: 

    AB014604.2 AF323727.1 AF392444.1 AF491781.1 AF491782.1 AF491783.1 AF491784.1 AF515639.1 
    AF515640.1 AL832293.1 AY008372.1 BC017731.1 

    15 DOTS entries:

    DT.100025959  DT.97770440  DT.100025961  DT.100025955  DT.100025954  DT.111823  DT.121046610  DT.100782233 
    DT.100025953  DT.91751546  DT.121046633  DT.95373952  DT.91642204  DT.99999772  DT.91944606 

    Selected AceView cDNA sequences (see all 159):

    AF392444 AB014604 AY008372 BU607405 AW338540 AF515639 AA491160 BX110042 
    AA768373 AF515640 BQ224152 BM754720 BF061535 CF138394 BG261305 NM_145320 
    AW241639 AI421489 AI696489 AF491782 AF491785 NM_145324 AI147104 AI249926 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL3 (see all 12)    About this scheme

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

    ExUns: 19c · 19d ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                          -                                       


    ECgene alternative splicing isoforms for OSBPL3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OSBPL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAGCACCA
    OSBPL3 Expression
    About this image


    OSBPL3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Cumulus Cells Antral Follicle
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
     
     Neural Tube (Nervous System)
             Metencephalon
    OSBPL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OSBPL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520259

    UniProtKB/Swiss-Prot: OSBL3_HUMAN, Q9H4L5
    Tissue specificity: Isoform 1a, isoform 1b, isoform 1c and isoform 1d are highly expressed in brain, bone marrow,
    colon, kidney, lung, skeletal muscle, spleen, thymus and thyroid. Not expressed in heart and liver. Isoform 2a,
    isoform 2b, isoform 2c and isoform 2d are expressed in brain, bone marrow, kidney, skeletal muscle, spleen,
    thymus and thyroid. Not expressed in heart, liver and lung

        Custom PCR Arrays for OSBPL3
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL3
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    QuantiFast Probe-based Assays in human, mouse, rat OSBPL3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL3

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OSBPL3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Osbpl31 , 5 oxysterol binding protein-like 31, 5 85.89(n)1
    91.46(a)1
      6 (24.13 cM)5
    717201  NM_027881.31  NP_082157.21 
     502933305 
    chicken
    (Gallus gallus)
    Aves OSBPL31 oxysterol binding protein-like 3 76.41(n)
    80.14(a)
      428432  XM_004939356.1  XP_004939413.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSBPL36
    oxysterol binding protein-like 3
    79(a)
    1 ↔ 1
    6(31172749-31224190)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia osbpl31 oxysterol binding protein-like 3 71.32(n)
    72.93(a)
      100379686  NM_001256919.1  NP_001243848.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.248672 Transcribed sequence with weak similarity to protein more 75.54(n)    BM184372.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ORP1B1 ORP1B 52.82(n)
    45.48(a)
      817654  NM_128657.1  NP_180660.1 
    rice
    (Oryza sativa)
    Liliopsida Os.350682 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.08(n)    AK069104.1 


    ENSEMBL Gene Tree for OSBPL3 (if available)
    TreeFam Gene Tree for OSBPL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OSBPL3 gene
    OSBPL1A2  OSBP2  OSBPL72  OSBP22  OSBPL22  OSBPL62  
    2 SIMAP similar genes for OSBPL3 using alignment to 4 protein entries:     OSBL3_HUMAN (see all proteins):
    OSBPL6    OSBPL7

    OSBPL3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OSBPL3 (see all 3802)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs768813521,2
    C,F--24835729(+) GGGCTA/GTTAGT 4 -- ds50013Minor allele frequency- G:0.05NA EA 242
    rs765780101,2
    C,F--24835781(+) ACTGCA/G/TTGGGG 4 -- ds50011WA 118
    rs21067601,2
    C,F,A,H--24835787(+) tggggT/Cattgg 4 -- ds500123Minor allele frequency- C:0.28NS EA NA WA CSA 2340
    rs1819811551,2
    --24835827(+) CAACCA/GTAATA 4 -- ds50010--------
    rs730883251,2
    C,F--24836133(+) TTAACC/GTGGAA 4 -- ds50012Minor allele frequency- G:0.02WA NA 238
    rs791073681,2
    C--24836244(+) AGAGGG/TATGGA 4 -- ut310--------
    rs1456543431,2
    C--24836604(+) GCCAAA/TACATT 4 -- ut310--------
    rs1836558801,2
    C--24836936(+) TATATC/TAGTTT 4 -- ut310--------
    rs1884075221,2
    --24837055(+) ACCAGA/TATCCA 4 -- ut310--------
    rs1118255091,2
    C--24837083(+) GAACTG/ACATGG 4 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for OSBPL3 (24836158 - 25021253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for OSBPL3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv994994CNV Insertion20482838
    nsv5667CNV Insertion18451855
    esv24690CNV Loss19812545
    nsv520276CNV Gain19592680
    nsv7393OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): OSBPL3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OSBPL3
    DNA2.0 Custom Variant and Variant Library Synthesis for OSBPL3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606732    OMIM disorders: --

    2 diseases for OSBPL3:    
    About MalaCards
    thyroiditis    cerebritis


    OSBPL3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OSBPL3
    Human Genome Epidemiology (HuGE) Navigator: OSBPL3 (2 documents)

    Export disorders for OSBPL3 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)
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    PubMed articles for OSBPL3 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with OSBPL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    2. ORP3 splice variants and their expression in human tissues and hematopoietic cells. (PubMed id 12590732)1, 2, 9 Collier F.M....Kirkland M.A. (DNA Cell Biol. 2003)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. The OSBP-related protein family in humans. (PubMed id 11483621)1, 2 Lehto M.... Olkkonen V.M. (J. Lipid Res. 2001)
    8. ORP-3, a human oxysterol-binding protein gene differentially expressed in hematopoietic cells. (PubMed id 11568019)1, 2 Gregorio-King C.C.... Kirkland M.A. (Blood 2001)
    9. A family of 12 human genes containing oxysterol-binding domains. (PubMed id 11735225)1, 2 Jaworski C.J.... Rodriguez I.R. (Genomics 2001)
    10. Targeting of OSBP-related protein 3 (ORP3) to endoplasmic reticulum and plasma membrane is controlled by multiple determinants. (PubMed id 16143324)1, 9 Lehto M....Olkkonen V.M. (Exp. Cell Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26031 HGNC: 16370 AceView: OSBPL3 Ensembl:ENSG00000070882 euGenes: HUgn26031
    ECgene: OSBPL3 H-InvDB: OSBPL3

    (According to HUGE)
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    HUGE: KIAA0704

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OSBPL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OSBPL3 gene:
    Search GeneIP for patents involving OSBPL3

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



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