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    LLGL2 lethal giant larvae homolog 2 (Drosophila) [ Homo sapiens ]

    Gene ID: 3993, updated on 11-May-2012

    Summary

    Official Symbol
    LLGL2provided by HGNC
    Official Full Name
    lethal giant larvae homolog 2 (Drosophila)provided by HGNC
    Primary source
    HGNC:6629
    See related
    Ensembl:ENSG00000073350; HPRD:10041
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HGL; LGL2
    Summary
    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]

    Genomic context

    Location :
    17q25.1
    Sequence :
    Chromosome: 17; NC_000017.10 (73521783..73571290)
    See LLGL2 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene KIAA0195 Neighboring gene CASK interacting protein 2 Neighboring gene tRNA splicing endonuclease 54 homolog (S. cerevisiae) Neighboring gene myosin XVB pseudogene Neighboring gene chromosome 17 open reading frame 109 Neighboring gene RecQ protein-like 5

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:110181 BioGRID:110181 LLGL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110181 BioGRID:119157 PARD6A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110181 BioGRID:124145 PARD6B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110181 BioGRID:124135 PARD6G    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110181 BioGRID:111570 PRKCI    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110181 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of establishment or maintenance of cell polarity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    lethal(2) giant larvae protein homolog 2
    Names
    lethal(2) giant larvae protein homolog 2
    human giant larvae homolog

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001015002.1NP_001015002.1  lethal(2) giant larvae protein homolog 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 3. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform c.
      Source sequence(s)
      AC100787, BC006503
      Consensus CDS
      CCDS45776.1
      UniProtKB/Swiss-Prot
      Q6P1M3
      Related
      ENSP00000364375, ENST00000375227
      Conserved Domains (2) summary
      pfam08366
      Location:268345
      Blast Score: 341
      LLGL; LLGL2
      cl02567
      Location:30262
      Blast Score: 108
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_001031803.1NP_001026973.1  lethal(2) giant larvae protein homolog 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AC100787, BC031842, BC064994, X87342
      Consensus CDS
      CCDS32733.1
      UniProtKB/TrEMBL
      A0PJJ0
      UniProtKB/Swiss-Prot
      Q6P1M3
      Related
      ENSP00000376333, ENST00000392550
      Conserved Domains (2) summary
      pfam08366
      Location:268372
      Blast Score: 403
      LLGL; LLGL2
      cl02567
      Location:30262
      Blast Score: 109
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. NM_004524.2NP_004515.2  lethal(2) giant larvae protein homolog 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate exon in the coding region compared to variant 3, that causes a frameshift. The resulting isoform (a) is shorter and has a distinct C-terminus compared to isoform c.
      Source sequence(s)
      AC100787, BC031842, X87342
      Consensus CDS
      CCDS11725.1
      UniProtKB/TrEMBL
      A0PJJ0
      UniProtKB/Swiss-Prot
      Q6P1M3
      Related
      ENSP00000167462, ENST00000167462
      Conserved Domains (2) summary
      pfam08366
      Location:268372
      Blast Score: 402
      LLGL; LLGL2
      cl02567
      Location:30262
      Blast Score: 109
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      73521783..73571290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      68945338..68995200
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC100787.17 (177059..226566) None
    genomic CH471099.1 EAW89280.1
      EAW89281.1
      EAW89282.1
      EAW89283.1
    mRNA AK025401.1 None
    mRNA AK125563.1 None
    mRNA AK126687.1 BAG54359.1
    mRNA AK301204.1 BAG62781.1
    mRNA AK315126.1 None
    mRNA BC006503.2 AAH06503.1
    mRNA BC010879.1 AAH10879.1
    mRNA BC031842.1 AAH31842.1
    mRNA BC064994.1 AAH64994.1
    mRNA BC067840.1 None
    mRNA X87342.1 CAA60780.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1M3.2 GenPept UniProtKB/Swiss-Prot:Q6P1M3

      Supplemental Content

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