Human Gene LLGL2 (uc002joi.3) Description and Page Index
  Description: Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 1, mRNA.
RefSeq Summary (NM_004524): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:73,521,783-73,571,290 Size: 49,508 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg19 chr17:73,539,508-73,570,987 Size: 31,480 Coding Exon Count: 24 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:73,521,783-73,571,290)mRNA (may differ from genome)Protein (1015 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
PubMedStanford SOURCETreefamUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LLGL2
CDC HuGE Published Literature: LLGL2

-  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

+  Common Gene Haplotype Alleles
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-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.70154-0.498 Picture PostScript Text
3' UTR -112.50303-0.371 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
  Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF08366 - LLGL2

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q6P1M3-2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  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 ****.
AK315126 - Homo sapiens cDNA, FLJ96089.
JD485151 - Sequence 466175 from Patent EP1572962.
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: NM_004524, NP_004515, Q6P1M3-2
UCSC ID: uc002joi.3
RefSeq Accession: NM_004524
Protein: Q6P1M3-2, splice isoform of Q6P1M3 CCDS: CCDS11725.1, CCDS32733.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_004524.2
exon count: 25CDS single in 3' UTR: no RNA size: 3547
ORF size: 3048CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5094.00frame shift in genome: no % Coverage: 98.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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