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Aliases for LLGL2 Gene

Aliases for LLGL2 Gene

  • LLGL2, Scribble Cell Polarity Complex Component 2 3 5
  • Lethal Giant Larvae Homolog 2, Scribble Cell Polarity Complex Component 2 3
  • HGL 3 4
  • Lethal Giant Larvae Homolog 2 (Drosophila) 2
  • Lethal(2) Giant Larvae Protein Homolog 2 3
  • Human Giant Larvae Homolog 3
  • Hugl-2 3
  • LGL2 3

External Ids for LLGL2 Gene

Previous GeneCards Identifiers for LLGL2 Gene

  • GC17P073507
  • GC17P076565
  • GC17P073985
  • GC17P074118
  • GC17P071033
  • GC17P073521
  • GC17P068945

Summaries for LLGL2 Gene

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 (LLGL2, Scribble Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with LLGL2 include Retinitis Pigmentosa 24. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and PI3K-Akt signaling pathway. GO annotations related to this gene include PDZ domain binding. An important paralog of this gene is LLGL1.

UniProtKB/Swiss-Prot for LLGL2 Gene

  • 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.

Additional gene information for LLGL2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LLGL2 Gene

Genomics for LLGL2 Gene

Regulatory Elements for LLGL2 Gene

Enhancers for LLGL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H075507 2 FANTOM5 Ensembl ENCODE dbSUPER 21.3 -11.5 -11532 11 MLX ZFP64 DMAP1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 ZNF585B ENSG00000267342 ENSG00000266980 NUP85 NT5C TSEN54 LLGL2 NAT9 EXOC7 UNK TMEM94
GH17H075555 1.6 Ensembl ENCODE dbSUPER 23.7 +32.0 32018 3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B LLGL2 ENSG00000266980 GGA3 UNK NUP85 NT5C TSEN54 UBE2O MYO15B SRP68
GH17H075546 1.5 Ensembl ENCODE dbSUPER 24.6 +24.2 24231 4 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B ZNF121 GLIS2 ELK1 NUP85 LLGL2 ENSG00000266980 TSEN54 NT5C TMEM94 UNK RN7SL573P MYO15B CASKIN2
GH17H075334 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.2 -183.3 -183262 14 HDGF PKNOX1 ATF1 ARNT SIN3A FEZF1 TCF12 ZNF121 ZNF766 GATA2 GRB2 LLGL2 MRPS7 NUP85 TMEM94 CASKIN2 TSEN54 MIF4GD MYO15B SMIM5
GH17H075552 1.4 Ensembl ENCODE dbSUPER 25.3 +28.0 27979 1 FOXA2 MLX ARID4B RAD21 DNMT3B THRB ZSCAN9 RARA GATA2 CREM LLGL2 MYO15B TMEM94 TSEN54 GC17P075560
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LLGL2 on UCSC Golden Path with GeneCards custom track

Promoters for LLGL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098398 520 1601 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 SP3 SP5 MXD4

Genomic Location for LLGL2 Gene

Chromosome:
17
Start:
75,525,080 bp from pter
End:
75,575,209 bp from pter
Size:
50,130 bases
Orientation:
Plus strand

Genomic View for LLGL2 Gene

Genes around LLGL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LLGL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LLGL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LLGL2 Gene

Proteins for LLGL2 Gene

  • Protein details for LLGL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1M3-L2GL2_HUMAN
    Recommended name:
    Lethal(2) giant larvae protein homolog 2
    Protein Accession:
    Q6P1M3
    Secondary Accessions:
    • Q14521
    • Q9BR62

    Protein attributes for LLGL2 Gene

    Size:
    1020 amino acids
    Molecular mass:
    113448 Da
    Quaternary structure:
    • Interacts with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6. The complex is enhanced during mitosis. Interacts with DCAF1.
    Miscellaneous:
    • Overexpression of LLGL2 inhibits the tight junction formation.

    Three dimensional structures from OCA and Proteopedia for LLGL2 Gene

    Alternative splice isoforms for LLGL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LLGL2 Gene

Post-translational modifications for LLGL2 Gene

  • 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.
  • Ubiquitination at Lys625 and posLast=724724
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LLGL2 Gene

Domains & Families for LLGL2 Gene

Gene Families for LLGL2 Gene

Suggested Antigen Peptide Sequences for LLGL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P1M3

UniProtKB/Swiss-Prot:

L2GL2_HUMAN :
  • Belongs to the WD repeat L(2)GL family.
Family:
  • Belongs to the WD repeat L(2)GL family.
genes like me logo Genes that share domains with LLGL2: view

Function for LLGL2 Gene

Molecular function for LLGL2 Gene

GENATLAS Biochemistry:
protein homolog of DLG1 (Drosophila lethal giant larvae 1) and C52A11.4 (C. elegans)
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for LLGL2 Gene

Gene Ontology (GO) - Molecular Function for LLGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 12725730
GO:0017137 Rab GTPase binding IBA --
GO:0019905 NOT syntaxin binding IBA --
GO:0030165 PDZ domain binding IPI 12725730
genes like me logo Genes that share ontologies with LLGL2: view
genes like me logo Genes that share phenotypes with LLGL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LLGL2

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LLGL2 Gene

Localization for LLGL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LLGL2 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LLGL2 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LLGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 15632202
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with LLGL2: view

Pathways & Interactions for LLGL2 Gene

genes like me logo Genes that share pathways with LLGL2: view

Pathways by source for LLGL2 Gene

Gene Ontology (GO) - Biological Process for LLGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0007049 cell cycle IEA --
GO:0017157 regulation of exocytosis IBA --
GO:0032878 regulation of establishment or maintenance of cell polarity IDA 12725730
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with LLGL2: view

No data available for SIGNOR curated interactions for LLGL2 Gene

Drugs & Compounds for LLGL2 Gene

(1) Drugs for LLGL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with LLGL2: view

Transcripts for LLGL2 Gene

Unigene Clusters for LLGL2 Gene

Lethal giant larvae homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LLGL2 Gene

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: - - - -
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13: -
SP14: -
SP15:
SP16:

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:
SP6: -
SP7: - -
SP8: -
SP9:
SP10: -
SP11: -
SP12: - -
SP13:
SP14:
SP15:
SP16:

Relevant External Links for LLGL2 Gene

GeneLoc Exon Structure for
LLGL2
ECgene alternative splicing isoforms for
LLGL2

Expression for LLGL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LLGL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LLGL2 Gene

This gene is overexpressed in Colon - Transverse (x6.7) and Pancreas (x4.6).

Protein differential expression in normal tissues from HIPED for LLGL2 Gene

This gene is overexpressed in Islet of Langerhans (12.3), Pancreas (9.7), Cervix (7.5), Placenta (6.8), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LLGL2 Gene



Protein tissue co-expression partners for LLGL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LLGL2 Gene:

LLGL2

SOURCE GeneReport for Unigene cluster for LLGL2 Gene:

Hs.514477

Evidence on tissue expression from TISSUES for LLGL2 Gene

  • Lung(4.3)
  • Liver(4.2)
  • Nervous system(4.2)
  • Pancreas(2.9)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with LLGL2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LLGL2 Gene

Orthologs for LLGL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LLGL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LLGL2 33 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia LLGL2 33 34
  • 89.22 (n)
cow
(Bos Taurus)
Mammalia LLGL2 33 34
  • 88.92 (n)
rat
(Rattus norvegicus)
Mammalia Llgl2 33
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Llgl2 33 16 34
  • 86.63 (n)
oppossum
(Monodelphis domestica)
Mammalia LLGL2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LLGL2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LLGL2 33 34
  • 71.14 (n)
lizard
(Anolis carolinensis)
Reptilia LLGL2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia llgl2 33
  • 68.37 (n)
Str.1582 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14793 33
zebrafish
(Danio rerio)
Actinopterygii llgl2 33 34
  • 66.11 (n)
Dr.3566 33
fruit fly
(Drosophila melanogaster)
Insecta l(2)gl 35 34
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea lgl-1 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for LLGL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LLGL2 Gene

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

Paralogs for LLGL2 Gene

Paralogs for LLGL2 Gene

genes like me logo Genes that share paralogs with LLGL2: view

Variants for LLGL2 Gene

Sequence variations from dbSNP and Humsavar for LLGL2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs587784476 Pathogenic 75,523,684(+) GGGGG(-/C)TTGGA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs797046054 Pathogenic 75,523,735(+) TCCGA(-/TA)AAGAA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs797046055 Pathogenic 75,523,746(+) AACCC(-/C)TGGCA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs587784477 Likely pathogenic 75,524,342(+) TGCCC(C/T)GGTGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-3-prime
rs11870627 Likely benign 75,524,404(+) ATGTG(C/G)GGCAC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LLGL2 Gene

Variant ID Type Subtype PubMed ID
esv1007606 CNV deletion 20482838
esv1010854 CNV deletion 20482838
esv2286878 CNV deletion 18987734
esv22892 CNV loss 19812545
esv2716239 CNV deletion 23290073
esv2716241 CNV deletion 23290073
esv2716242 CNV deletion 23290073
esv2716243 CNV deletion 23290073
esv2716244 CNV deletion 23290073
esv2716245 CNV deletion 23290073
esv3308749 CNV mobile element insertion 20981092
esv3347440 CNV insertion 20981092
esv3480 CNV loss 18987735
esv3554787 CNV deletion 23714750
nsv1071802 CNV deletion 25765185
nsv1125265 CNV deletion 24896259
nsv1138580 CNV deletion 24896259
nsv1143861 CNV deletion 24896259
nsv1147313 CNV deletion 26484159
nsv1151582 CNV deletion 26484159
nsv470603 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv576028 CNV loss 21841781
nsv576029 CNV loss 21841781
nsv820595 CNV deletion 20802225
nsv828102 CNV loss 20364138
nsv833542 CNV loss 17160897
nsv833543 CNV loss 17160897

Variation tolerance for LLGL2 Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.67; 99.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LLGL2 Gene

Human Gene Mutation Database (HGMD)
LLGL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LLGL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LLGL2 Gene

Disorders for LLGL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LLGL2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 24
  • rp24
- elite association - COSMIC cancer census association via MalaCards
Search LLGL2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LLGL2

Genetic Association Database (GAD)
LLGL2
Human Genome Epidemiology (HuGE) Navigator
LLGL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LLGL2
genes like me logo Genes that share disorders with LLGL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LLGL2 Gene

Publications for LLGL2 Gene

  1. The human Lgl polarity gene, Hugl-2, induces MET and suppresses Snail tumorigenesis. (PMID: 22580609) Kashyap A … Strand D (Oncogene 2013) 2 3 60
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 45 60
  4. Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. (PMID: 19403135) Yamada Y … Kojima T (Atherosclerosis 2009) 3 45 60
  5. Cloning and characterization of the promoter of Hugl-2, the human homologue of Drosophila lethal giant larvae (lgl) polarity gene. (PMID: 18155665) Zimmermann T … Strand D (Biochemical and biophysical research communications 2008) 3 22 60

Products for LLGL2 Gene

Sources for LLGL2 Gene

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