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LLGL2 Gene

protein-coding   GIFtS: 62
GCID: GC17P073521

Lethal Giant Larvae Homolog 2 (Drosophila)

(Previous name: lethal giant larvae (Drosophila) homolog 2)
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(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
Lethal Giant Larvae Homolog 2 (Drosophila)1 2
HGL2 3
Lethal Giant Larvae (Drosophila) Homolog 21
LGL22
Human Giant Larvae Homolog2
Lethal(2) Giant Larvae Protein Homolog 22

External Ids:    HGNC: 66291   Entrez Gene: 39932   Ensembl: ENSG000000733507   UniProtKB: Q6P1M33   

Export aliases for LLGL2 gene to outside databases

Previous GC identifers: GC17P073507 GC17P076565 GC17P073985 GC17P074118 GC17P071033 GC17P068945


(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 LLGL2 Gene:
The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell
polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila.
In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C
(aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic
cells. Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LLGL2 Gene:
LLGL2 (lethal giant larvae homolog 2 (Drosophila)) is a protein-coding gene. GO annotations related to this gene include PDZ domain binding. An important paralog of this gene is STXBP5.

UniProtKB/Swiss-Prot: L2GL2_HUMAN, Q6P1M3
Function: Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization
and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of
the establishment of epithelial cell polarity




(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 at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LLGL2 gene promoter:
         ER-alpha   AML1a   Pax-6   C/EBPalpha   POU2F1   HOXA5   POU2F1b   POU2F1a   COMP1   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLLGL2 promoter sequence
   Search Chromatin IP Primers for LLGL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LLGL2


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

LLGL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LLGL2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P073521:  view genomic region     (about GC identifiers)

Start:
73,521,161 bp from pter      End:
73,571,290 bp from pter
Size:
50,130 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: L2GL2_HUMAN, Q6P1M3 (See protein sequence)
Recommended Name: Lethal(2) giant larvae protein homolog 2  
Size: 1020 amino acids; 113448 Da
Subunit: Interacts with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6. The complex is enhanced during mitosis. Interacts
with VPRBP
Miscellaneous: Overexpression of LLGL2 inhibits the tight junction formation
Secondary accessions: Q14521 Q9BR62
Alternative splicing: 3 isoforms:  Q6P1M3-1   Q6P1M3-2   Q6P1M3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LLGL2: NX_Q6P1M3

Explore proteomics data for LLGL2 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-653 by PRKCI. Phosphorylation is enhanced during cell polarization induced by calcium.
    Phosphorylation may occur during the cell-cell contact-induced cell polarization and may contribute to the
    segregation of LLGL2 from the PRKCI/aPKC and PARD6B/Par-6 complex1
  • Ubiquitination2 at Lys625, Lys724
  • Modification sites at PhosphoSitePlus

  • See LLGL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001015002.1  NP_001026973.1  NP_004515.2  

    ENSEMBL proteins: 
     ENSP00000464598   ENSP00000167462   ENSP00000364375   ENSP00000376333   ENSP00000464603  
     ENSP00000463721   ENSP00000464397   ENSP00000464451   ENSP00000461953   ENSP00000463390  
     ENSP00000464483   ENSP00000463501   ENSP00000463150   ENSP00000462439  

    LLGL2 Human Recombinant Protein Products:

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    Novus Biologicals LLGL2 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for LLGL2

     
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    Search eBioscience for ELISAs for LLGL2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR000664 Lethal2_giant
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q6P1M3

    ProtoNet protein and cluster: Q6P1M3

    1 Blocks protein domain: IPB000664 Lethal(2) giant larvae protein signature

    UniProtKB/Swiss-Prot: L2GL2_HUMAN, Q6P1M3
    Similarity: Belongs to the WD repeat L(2)GL family
    Similarity: Contains 14 WD repeats


    Find genes that share domains with LLGL2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: L2GL2_HUMAN, Q6P1M3
    Function: Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization
    and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of
    the establishment of epithelial cell polarity

         Genatlas biochemistry entry for LLGL2:
    protein homolog of DLG1 (Drosophila lethal giant larvae 1) and C52A11.4 (C. elegans)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12725730
    GO:0030165PDZ domain binding IPI12725730
         
    Find genes that share ontologies with LLGL2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LLGL2:
     Cells with protrusions 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Llgl2):
     cardiovascular system  embryogenesis  growth/size/body  integument  mortality/aging 

    Find genes that share phenotypes with LLGL2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LLGL2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LLGL2
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    miRNA
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    miRTarBase miRNAs that target LLGL2:
    hsa-mir-335-5p (MIRT018037)

    Block miRNA regulation of human, mouse, rat LLGL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LLGL2 (see all 22):
    hsa-miR-142-3p hsa-miR-34b* hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-548a-3p hsa-miR-548g hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidLLGL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LLGL2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): LLGL2 (NM_004524)
    Browse Sino Biological Human cDNA Clones
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    (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 UniProtKB/Swiss-Prot
    L2GL2_HUMAN, Q6P1M3: Cytoplasm. Note=Localized in the perinuclear structure and faintly at the cell-cell contacts
    sites in the interphase. Localized at the cell periphery during metaphase. Cortical localization in mitotic
    cells. Found in the lateral region of polarized epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15632202
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with LLGL2           About GenesLikeMe


    (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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    SuperPaths for LLGL2 About    
    See pathways by source

    SuperPathContained pathways About
    1Actin Nucleation by ARP-WASP Complex
    CDC42 Pathway0.41
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3Tight junction
    Tight junction
    4Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with LLGL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LLGL2
        Epithelial Tight Junctions
    CDC42 Pathway


    2 Kegg Pathways  (Kegg details for LLGL2):
        Hippo signaling pathway
    Tight junction

        Pathway & Disease-focused RT2 Profiler PCR Array including LLGL2: 
              Tight Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LLGL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LLGL2 (Q6P1M33 ENSP000003763334) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARD6BQ9BYG53, ENSP000003606724I2D: score=2 STRING: ENSP00000360672
    PRKCIP417433, ENSP000002957974I2D: score=2 STRING: ENSP00000295797
    PARD6AQ9NPB63, ENSP000002192554I2D: score=2 STRING: ENSP00000219255
    PARD6GQ9BYG43, ENSP000003431444I2D: score=2 STRING: ENSP00000343144
    KBTBD7Q8WVZ93I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006887exocytosis IEA--
    GO:0007049cell cycle IEA--
    GO:0032878regulation of establishment or maintenance of cell polarity IDA12725730
    GO:0051301cell division IEA--

    Find genes that share ontologies with LLGL2           About GenesLikeMe



    (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 LLGL2 (L2GL2)

    1 HMDB Compound for LLGL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LLGL2 gene (3 alternative transcripts): 
    NM_001015002.1  NM_001031803.1  NM_004524.2  

    Unigene Cluster for LLGL2:

    Lethal giant larvae homolog 2 (Drosophila)
    Hs.514477  [show with all ESTs]
    Unigene Representative Sequence: NM_001031803
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000580578 ENST00000167462(uc002joi.3) ENST00000375227(uc002jog.1)
    ENST00000392550(uc002joh.3 uc010dgg.2 uc010wsd.2) ENST00000578363(uc010dgf.1)
    ENST00000579392 ENST00000577200 ENST00000578536 ENST00000580925 ENST00000581713
    ENST00000583658 ENST00000545227(uc002joj.3) ENST00000582860 ENST00000580027
    ENST00000578638 ENST00000577500 ENST00000578719 ENST00000579092
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LLGL2 (see all 22):
    hsa-miR-142-3p hsa-miR-34b* hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-548a-3p hsa-miR-548g hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidLLGL2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): LLGL2 (NM_004524)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LLGL2
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      QuantiTect SYBR Green Assays in human, mouse, rat LLGL2
      QuantiFast Probe-based Assays in human, mouse, rat LLGL2

    Additional mRNA sequence: 

    AK301204.1 AK315126.1 BC006503.2 BC010879.1 BC031842.1 BC064994.1 BC067840.1 X87342.1 

    19 DOTS entries:

    DT.91910571  DT.443177  DT.75103711  DT.102825509  DT.99946391  DT.101982979  DT.92432465  DT.95280244 
    DT.100813273  DT.95096879  DT.120974726  DT.92432468  DT.95361780  DT.100029086  DT.100813276  DT.100813277 
    DT.120974760  DT.92022341  DT.91675232 

    Selected AceView cDNA sequences (see all 238):

    BQ632107 CA941152 CA866535 BC006503 BC010879 BQ286280 CA866181 BQ631810 
    X87342 CA941281 CF139387 NM_004524 CK429915 BQ708642 BQ778230 CA392532 
    BM768534 BX957135 BQ007365 CB852486 AK097318 BU076386 BM768740 BM928813 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LLGL2 (see all 16)    About this scheme

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

    ExUns: 16b ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b · 26c · 26d
    SP1:  -           -                                                                 -                                             
    SP2:  -           -                                                                 -           -                                 
    SP3:  -           -                                                                 -           -                                 
    SP4:  -           -                                                                             -                                 
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for LLGL2

    (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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    LLGL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGAAGCC
    LLGL2 Expression
    About this image


    LLGL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)
             Metanephros
     
     Colon (Gastrointestinal Tract)
     
     Stomach (Gastrointestinal Tract)
    LLGL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LLGL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514477
        Pathway & Disease-focused RT2 Profiler PCR Array including LLGL2: 
              Tight Junctions in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LLGL2

    (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 animals.

    Orthologs for LLGL2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Llgl21 , 5 lethal giant larvae homolog 2 (Drosophila)1, 5 86.63(n)1
    91.08(a)1
      11 (80.91 cM)5
    2173251  NM_145438.21  NP_663413.21 
     1158240495 
    chicken
    (Gallus gallus)
    Aves LLGL21 lethal giant larvae homolog 2 (Drosophila) 71.14(n)
    77.55(a)
      422127  XM_420130.4  XP_420130.3 
    lizard
    (Anolis carolinensis)
    Reptilia LLGL26
    lethal giant larvae homolog 2 (Drosophila)
    77(a)
    1 ↔ 1
    2(114031706-114109297)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.147932 Xenopus laevis transcribed sequence with weak similarity more 77.41(n)    BJ043333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.35662 Danio rerio cDNA clone MGC55895 IMAGE3818830, complete more 75.28(n)    BC052919.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)gl3 TGFbeta receptor signaling pathway
    myosin binding
    35(a)   2 21A2   --
    worm
    (Caenorhabditis elegans)
    Secernentea lgl-16
    Protein LGL-1 (lgl-1) mRNA, complete cds
    18(a)
    1 → many
    X(864930-871079) WBGene00018987


    ENSEMBL Gene Tree for LLGL2 (if available)
    TreeFam Gene Tree for LLGL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LLGL2 gene
    STXBP52  LLGL12  STXBP5L2  
    3 SIMAP similar genes for LLGL2 using alignment to 12 protein entries:     L2GL2_HUMAN (see all proteins):
    LLGL1    STXBP5L    STXBP5

    Find genes that share paralogs with LLGL2           About GenesLikeMe



    (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 LLGL2 (see all 1424)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410676001,2
    C--73521486(+) CAGGCG/TTTCCG 3 -- us2k10--------
    rs745209071,2
    F--73521558(+) AGGTGG/CGCGCA 3 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1889510991,2
    --73521594(+) ACCCCA/GAGGCC 3 -- us2k10--------
    rs774229171,2
    C,F--73521599(+) GAGGCA/CGTTCG 3 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1932418351,2
    --73521696(+) GAGCTG/TGGGGG 3 -- us2k10--------
    rs3683541711,2
    C--73521858(+) GCGGG-/CGCC  
      GAGGGA
    CGCCG
    6 -- ut510--------
    rs669900381,2
    C,F--73522103(+) GCGGGA/GAACTT 3 -- int14Minor allele frequency- G:0.27WA CSA NA 242
    rs1823003601,2
    --73522245(+) GGGCCC/GACGTG 3 -- int10--------
    rs1865712481,2
    --73522432(+) TCGGTC/TTCCGG 3 -- int10--------
    rs1412060381,2
    --73522445(+) TTTCTA/CCAGCT 3 -- int10--------

    HapMap Linkage Disequilibrium report for LLGL2 (73521161 - 73571290 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LLGL2 (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3480CNV Deletion18987735
    nsv820595CNV Deletion20802225
    esv2716241CNV Deletion23290073
    esv2716245CNV Deletion23290073
    esv1010854CNV Deletion20482838
    esv2286878CNV Deletion18987734
    esv1007606CNV Deletion20482838
    esv2716244CNV Deletion23290073
    esv2716243CNV Deletion23290073
    esv2716239CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LLGL2
    DNA2.0 Custom Variant and Variant Library Synthesis for LLGL2

    (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.)
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    Find genes that share disorders with LLGL2           About GenesLikeMe

    Genetic Association Database (GAD): LLGL2
    Human Genome Epidemiology (HuGE) Navigator: LLGL2 (3 documents)

    Export disorders for LLGL2 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 LLGL2 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with LLGL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    3. Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. (PubMed id 19403135)1, 4 Yamada Y....Kojima T. (Atherosclerosis 2009)
    4. Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division. (PubMed id 15632202)1, 2 Yasumi M.... Takai Y. (J. Biol. Chem. 2005)
    5. 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)
    6. Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity. (PubMed id 12725730)1, 2 Yamanaka T.... Ohno S. (Curr. Biol. 2003)
    7. Cloning and characterization of the promoter of Hugl-2, the human homologue of Drosophila lethal giant larvae (lgl) polarity gene. (PubMed id 18155665)1, 9 Zimmermann T....Strand D. (Biochem. Biophys. Res. Commun. 2008)
    8. The human Lgl polarity gene, Hugl-2, induces MET and suppresses Snail tumorigenesis. (PubMed id 22580609)1 Kashyap A....Strand D. (Oncogene 2013)
    9. Distinguishing Barrett gastric foveolar dysplasia from reactive cardiac mucosa in gastroesophageal reflux disease. (PubMed id 23332925)1 Patil D.T....Bronner M.P. (Hum. Pathol. 2013)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (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: 3993 HGNC: 6629 AceView: LLGL2 Ensembl:ENSG00000073350 euGenes: HUgn3993
    ECgene: LLGL2 Kegg: 3993 H-InvDB: LLGL2

    (According to HUGE)
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      --

    (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 LLGL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LLGL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LLGL2 gene:
    Search GeneIP for patents involving LLGL2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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