LLGL2 Gene (Protein Coding)

LLGL Scribble Cell Polarity Complex Component 2

GC17P075525
GIFtS:
41
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 a... See more...

Aliases for LLGL2 Gene

Aliases for LLGL2 Gene

  • LLGL Scribble Cell Polarity Complex Component 2 2 3 4 5
  • HGL 2 3 4
  • Lethal Giant Larvae Homolog 2, Scribble Cell Polarity Complex Component 2 3
  • LLGL2, Scribble Cell Polarity Complex Component 2 3
  • Lethal(2) Giant Larvae Protein Homolog 2 3 4
  • Hugl-2 2 3
  • Lethal Giant Larvae Homolog 2 (Drosophila) 2
  • Human Giant Larvae Homolog 3
  • LLGL2 5
  • 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 (LLGL Scribble Cell Polarity Complex Component 2) is a Protein Coding gene. Among its related pathways are Hippo signaling pathway and PI3K-Akt signaling pathway. Gene Ontology (GO) annotations related to this gene include PDZ domain binding. An important paralog of this gene is LLGL1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for LLGL2 Gene

Genomics for LLGL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LLGL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LLGL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LLGL2

Top Transcription factor binding sites by QIAGEN in the LLGL2 gene promoter:
  • AML1a
  • C/EBPalpha
  • COMP1
  • ER-alpha
  • HOXA5
  • Pax-6
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for LLGL2 Gene

Latest Assembly
chr17:75,525,080-75,575,209
(GRCh38/hg38)
Size:
50,130 bases
Orientation:
Plus strand

Previous Assembly
chr17:73,521,778-73,571,290
(GRCh37/hg19 by Entrez Gene)
Size:
49,513 bases
Orientation:
Plus strand

chr17:73,521,161-73,571,289
(GRCh37/hg19 by Ensembl)
Size:
50,129 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 Structure • Gene Density

RefSeq DNA sequence for LLGL2 Gene

Proteins for LLGL2 Gene

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  3. Assay products for research

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

    Protein Symbol:
    Q6P1M3-L2GL2_HUMAN
    Recommended name:
    LLGL scribble cell polarity complex component 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

Protein Expression for LLGL2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys724
  • Modification sites at PhosphoSitePlus

Other Protein References for LLGL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LLGL2 Gene

Domains & Families for LLGL2 Gene

Gene Families for LLGL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LLGL2 Gene

InterPro:
Blocks:
  • Lethal(2) giant larvae protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for LLGL2 Gene

GenScript: Design optimal peptide antigens:
  • LLGL2 protein (A0PJJ0_HUMAN)
  • HGL (L2GL2_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for LLGL2 Gene

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

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 21873635
GO:0005515 protein binding IEA,IPI 12725730
GO:0030165 PDZ domain binding IPI 12725730
GO:0031267 small GTPase binding IBA --
GO:0045159 myosin II binding IBA 21873635
genes like me logo Genes that share ontologies with LLGL2: view
genes like me logo Genes that share phenotypes with LLGL2: view

Animal Models for LLGL2 Gene

MGI Knock Outs for LLGL2:
  • Llgl2 Llgl2<tm1b(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for LLGL2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 4
cytoskeleton 4
nucleus 3
extracellular 1
mitochondrion 1
endosome 1
golgi apparatus 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 IBA,IDA 15632202
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA 21873635
GO:0030864 cortical actin cytoskeleton IBA 21873635
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

2 Qiagen pathways for LLGL2 Gene
  • CDC42 Pathway
  • Epithelial Tight Junctions

SIGNOR curated interactions for LLGL2 Gene

Is activated by:

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:0008593 regulation of Notch signaling pathway IBA 21873635
GO:0015820 leucine transport IMP 30996345
GO:0030866 cortical actin cytoskeleton organization IBA 21873635
genes like me logo Genes that share ontologies with LLGL2: view

Drugs & Compounds for LLGL2 Gene

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(1) Drugs for LLGL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876
genes like me logo Genes that share compounds with LLGL2: view

Transcripts for LLGL2 Gene

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mRNA/cDNA for LLGL2 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL2

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

Expression for LLGL2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for LLGL2 Gene
mRNA expression by GTEx for LLGL2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for LLGL2 Gene



Protein tissue co-expression partners for LLGL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LLGL2

SOURCE GeneReport for Unigene cluster for LLGL2 Gene:

Hs.514477

Evidence on tissue expression from TISSUES for LLGL2 Gene

  • Lung(4.4)
  • Nervous system(4.4)
  • Liver(4.3)
  • Pancreas(2.9)
  • Intestine(2.8)
  • Kidney(2.3)
  • Stomach(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with LLGL2: view

Primer products for research

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 30 31
  • 99.38 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LLGL2 30 31
  • 89.22 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LLGL2 30 31
  • 88.92 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Llgl2 30
  • 86.86 (n)
Mouse
(Mus musculus)
 Mammalia Llgl2 30 17 31
  • 86.63 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia LLGL2 31
  • 83 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LLGL2 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LLGL2 30 31
  • 71.14 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LLGL2 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia llgl2 30
  • 68.37 (n)
Str.1582 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14793 30
Zebrafish
(Danio rerio)
 Actinopterygii llgl2 30 31
  • 66.11 (n)
 OneToOne
Dr.3566 30
Fruit Fly
(Drosophila melanogaster)
 Insecta l(2)gl 31 32
  • 31 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lgl-1 31
  • 18 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 46 (a)
 OneToMany
Species where no ortholog for LLGL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LLGL2: view image

Paralogs for LLGL2 Gene

Paralogs for LLGL2 Gene

(3) SIMAP similar genes for LLGL2 Gene using alignment to 12 proteins:

  • L2GL2_HUMAN
  • A0PJJ0_HUMAN
  • J3KRE1_HUMAN
  • J3KSD5_HUMAN
  • J3QKM6_HUMAN
  • J3QL58_HUMAN
  • J3QLD8_HUMAN
  • J3QLV4_HUMAN
  • J3QRV5_HUMAN
  • J3QRZ8_HUMAN
  • J3QS20_HUMAN
  • J3QSA6_HUMAN
genes like me logo Genes that share paralogs with LLGL2: view

Variants for LLGL2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LLGL2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs115026154 Benign: not provided 75,570,013(+) G/C
NM_001031803.2(LLGL2):c.1632G>C (p.Gln544His) 		MISSENSE
rs115615615 Benign: not provided 75,570,343(+) C/G
NM_001031803.2(LLGL2):c.1875-5C>G 		INTRON
rs139362844 Benign: not provided 75,563,372(+) C/T
NM_001031803.2(LLGL2):c.735C>T (p.Leu245=) 		SYNONYMOUS
rs144386071 Benign: not provided 75,573,500(+) C/T
NM_001031803.2(LLGL2):c.2745C>T (p.Pro915=) 		SYNONYMOUS
rs148020757 Benign: not provided 75,571,720(+) G/A
NM_001031803.2(LLGL2):c.2230G>A (p.Ala744Thr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LLGL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for LLGL2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for LLGL2 Gene

Additional Disease Information for LLGL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for LLGL2 Gene.

No data available for MalaCards , 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
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  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 41
  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 23

ExternalLinks

View latest publications for LLGL2 gene in Mastermind

Products for LLGL2 Gene

Sources for LLGL2 Gene