Human Gene LLGL2 (ENST00000392550.7) Description and Page Index
  Description: Homo sapiens LLGL scribble cell polarity complex component 2 (LLGL2), transcript variant 3, mRNA. (from RefSeq NM_001031803)
RefSeq Summary (NM_001031803): 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].
Gencode Transcript: ENST00000392550.7
Gencode Gene: ENSG00000073350.13
Transcript (Including UTRs)
   Position: hg38 chr17:75,525,739-75,575,207 Size: 49,469 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg38 chr17:75,543,427-75,574,878 Size: 31,452 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:75,525,739-75,575,207)mRNA (may differ from genome)Protein (1020 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: L2GL2_HUMAN
DESCRIPTION: RecName: Full=Lethal(2) giant larvae protein homolog 2; AltName: Full=HGL;
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.
SUBUNIT: Interacts with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6. The complex is enhanced during mitosis.
SUBCELLULAR LOCATION: 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.
PTM: 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 complex.
MISCELLANEOUS: Overexpression of LLGL2 inhibits the tight junction formation.
SIMILARITY: Belongs to the WD repeat L(2)GL family.
SIMILARITY: Contains 14 WD repeats.

-  MalaCards Disease Associations
  MalaCards Gene Search: LLGL2
Diseases sorted by gene-association score: retinitis pigmentosa 24 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 61.45 RPKM in Colon - Transverse
Total median expression: 480.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.70117-0.493 Picture PostScript Text
3' UTR -119.60329-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000664 - Lethal2_giant
IPR013577 - LLGL2
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF08366 - LLGL2
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q6P1M3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0030165 PDZ domain binding
GO:0019905 syntaxin binding

Biological Process:
GO:0006887 exocytosis
GO:0007049 cell cycle
GO:0017157 regulation of exocytosis
GO:0032878 regulation of establishment or maintenance of cell polarity
GO:0043547 positive regulation of GTPase activity
GO:0050708 regulation of protein secretion
GO:0051301 cell division

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC010879 - Homo sapiens lethal giant larvae homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:3537133), complete cds.
BC006503 - Homo sapiens lethal giant larvae homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:2820933), complete cds.
X87342 - H.sapiens mRNA for human giant larvae homolog.
BC067840 - Homo sapiens cDNA clone IMAGE:5262315, containing frame-shift errors.
BC064994 - Homo sapiens lethal giant larvae homolog 2 (Drosophila), mRNA (cDNA clone MGC:75113 IMAGE:5575350), complete cds.
BC080595 - Homo sapiens cDNA clone IMAGE:4579943, **** WARNING: chimeric clone ****.
JD485151 - Sequence 466175 from Patent EP1572962.
AK315126 - Homo sapiens cDNA, FLJ96089.
KJ897133 - Synthetic construct Homo sapiens clone ccsbBroadEn_06527 LLGL2 gene, encodes complete protein.
AK126687 - Homo sapiens cDNA FLJ44733 fis, clone BRACE3026290, highly similar to Lethal(2) giant larvae protein homolog 2.
AK125563 - Homo sapiens cDNA FLJ43575 fis, clone RECTM2002602, highly similar to Homo sapiens similar to lethal giant larvae.
AK301204 - Homo sapiens cDNA FLJ56252 complete cds, highly similar to Lethal(2) giant larvae protein homolog 2.
AK025401 - Homo sapiens cDNA: FLJ21748 fis, clone COLF5472, highly similar to HSHGLHOMO Homo sapiens mRNA for human giant larvae homolog.
BC031842 - Homo sapiens lethal giant larvae homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:4512964), partial cds.
JD199337 - Sequence 180361 from Patent EP1572962.
JD532555 - Sequence 513579 from Patent EP1572962.
JD519679 - Sequence 500703 from Patent EP1572962.
JD124016 - Sequence 105040 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction

-  Other Names for This Gene
  Alternate Gene Symbols: L2GL2_HUMAN, NM_001031803, Q14521, Q6P1M3, Q9BR62, uc002joh.1, uc002joh.2, uc002joh.3, uc002joh.4
UCSC ID: uc002joh.4
RefSeq Accession: NM_001031803
Protein: Q6P1M3 (aka L2GL2_HUMAN)
CCDS: CCDS11725.1, CCDS32733.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.