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 5
- 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
- HGL 3 4
- Lethal Giant Larvae Homolog 2 (Drosophila) 2
- Human Giant Larvae Homolog 3
- Hugl-2 3
- LGL2 3
External Ids for LLGL2 Gene
- HGNC: 6629
- Entrez Gene: 3993
- Ensembl: ENSG00000073350
- OMIM: 618483
- UniProtKB: Q6P1M3
Previous GeneCards Identifiers for LLGL2 Gene
- GC17P073507
- GC17P076565
- GC17P073985
- GC17P074118
- GC17P071033
- GC17P073521
- GC17P068945
Summaries 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. Diseases associated with LLGL2 include Pontocerebellar Hypoplasia, Type 2A and Pontoneocerebellar Hypoplasia. Among its related pathways are Tight junction and Actin Nucleation by ARP-WASP Complex. 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.
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 for LLGL2 Gene
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 UCSC Golden Path with GeneCards custom track
- 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
Genomic Locations for LLGL2 Gene
- chr17:75,525,080-75,575,209
- (GRCh38/hg38)
- Size:
- 50,130 bases
- Orientation:
- Plus strand
- chr17:73,521,161-73,571,290
- (GRCh37/hg19)
- 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:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
LLGL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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 Lys724
- NX_Q6P1M3 (NX_Q6P1M3-1)
- Modification sites at PhosphoSitePlus
Other Protein References for LLGL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-LLGL2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for LLGL2
- Novus Biologicals Antibodies for LLGL2
- Invitrogen Antibodies for LLGL2 (AFLGC-LLGL2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for LLGL2
Protein Products
- Atlas Antibodies PrEST Antigen LLGL2
-
OriGene Purified Proteins for LLGL2
- Search Origene for MassSpec and Protein Over-expression Lysates for LLGL2
- Origene Custom Protein Services for LLGL2
-
Abcam proteins for LLGL2
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
- Blocks:
- InterPro:
- 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- Family:
-
- Belongs to the WD repeat L(2)GL family.
Function for LLGL2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IBA | 21873635 |
| GO:0005515 | protein binding | IEA,IPI | 12725730 |
| GO:0017137 | Rab GTPase binding | IBA | 21873635 |
| GO:0030165 | PDZ domain binding | IPI | 12725730 |
| GO:0045159 | myosin II binding | IBA | 21873635 |
Phenotypes for LLGL2 Gene
- MGI mutant phenotypes for LLGL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for LLGL2:
Animal Models for LLGL2 Gene
- MGI Knock Outs for LLGL2:
-
- Llgl2 Llgl2<tm1b(KOMP)Wtsi>
Animal Model Products
-
Taconic Biosciences Mouse Models for LLGL2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LLGL2 - Select products 50% OFF >
- * LLGL2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * LLGL2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for LLGL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LLGL2
- genomics-online: gRNA clones - Search for available LLGL2 gRNA products
- Overview of 121 available LLGL2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for LLGL2
miRNA for LLGL2 Gene
- miRTarBase miRNAs that target LLGL2
-
- hsa-mir-335-5p (MIRT018037)
- hsa-mir-548d-3p (MIRT078700)
- hsa-mir-548j-3p (MIRT078702)
- hsa-mir-548h-3p (MIRT078704)
- hsa-mir-548x-3p (MIRT078705)
- hsa-mir-548z (MIRT078707)
- hsa-mir-548ac (MIRT078708)
- hsa-mir-548ae-3p (MIRT078709)
- hsa-mir-548ah-3p (MIRT078710)
- hsa-mir-548aj-3p (MIRT078711)
- hsa-mir-548am-3p (MIRT078712)
- hsa-mir-548aq-3p (MIRT078716)
- hsa-mir-5582-3p (MIRT078718)
- hsa-mir-548bb-3p (MIRT078722)
- hsa-mir-5196-5p (MIRT493294)
- hsa-mir-4747-5p (MIRT493295)
- hsa-mir-4745-3p (MIRT493296)
- hsa-mir-1538 (MIRT493297)
- hsa-mir-3202 (MIRT493298)
- hsa-mir-5008-5p (MIRT493299)
- hsa-mir-1247-3p (MIRT493300)
- hsa-mir-1324 (MIRT493301)
- hsa-mir-4747-3p (MIRT493302)
- hsa-mir-1912 (MIRT493303)
- hsa-mir-1295b-5p (MIRT493304)
- hsa-mir-4477a (MIRT550435)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for LLGL2
- Browse OriGene Inhibitory RNA Products For LLGL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL2
- genomics-online: shRNA clones - Search for available LLGL2 shRNA products
- Overview of 121 available LLGL2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for LLGL2 - Select products 50% OFF >
- * LLGL2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * LLGL2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG211478
- MR211478
- MR211478L3
- MR211478L3V
- MR211478L4
- MR211478L4V
- MR231526
- RC209559
- RC209559L3
- RC209559L3V
- RC209559L4
- RC209559L4V
- RC212604
- RC212604L3
- RC212604L3V
- RC212604L4
- RC212604L4V
- RC212661
- RC212661L3
- RC212661L3V
- RC212661L4
- RC212661L4V
- RG209559
- RG212604
- RG212661
- RR212462
- RR212462L1
- RR212462L1V
- RR212462L2
- RR212462L2V
- RR212462L3
- RR212462L3V
- RR212462L4
- RR212462L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LLGL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LLGL2
- genomics-online: cdna clones - Search for available LLGL2 CDNA products
- Overview of 121 available LLGL2 gene related products
- orf clones - Search for available LLGL2 ORF products
- Overview of 121 available LLGL2 gene related products
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 3 |
| cytoskeleton | 3 |
| nucleus | 3 |
| mitochondrion | 1 |
- Cytosol (3)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA,IBA | 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 | -- |
Pathways & Interactions for LLGL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Hippo signaling pathway | ||
| 2 | PI3K-Akt signaling pathway | ||
| 3 | Tight junction | ||
| 4 | Actin Nucleation by ARP-WASP Complex |
CDC42 Pathway
.41
|
|
| 5 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
|
Pathways by source for LLGL2 Gene
3 KEGG pathways for LLGL2 Gene
2 Qiagen pathways for LLGL2 Gene
- CDC42 Pathway
- Epithelial Tight Junctions
Interacting Proteins for LLGL2 Gene
GPS-Prot Interaction Network for LLGL2
| 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:0030866 | cortical actin cytoskeleton organization | IBA | 21873635 |
| GO:0032878 | regulation of establishment or maintenance of cell polarity | IDA,IBA | 12725730 |
No data available for SIGNOR curated interactions for LLGL2 Gene
Drugs & Compounds for LLGL2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Approved | Nutra | 7773 |
Drug Products
- Atlas Antibodies PrEST Antigen LLGL2
Transcripts for LLGL2 Gene
mRNA/cDNA for LLGL2 Gene
- (3) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (238) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000580578 577 bps (ENST00000580578.5)
- ENST00000167462 3480 bps (ENST00000167462.9)
- ENST00000375227 1374 bps (ENST00000375227.8)
- ENST00000392550 3509 bps (ENST00000392550.7)
- ENST00000578363 1393 bps (ENST00000578363.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LLGL2 - Select products 50% OFF >
- * LLGL2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * LLGL2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for LLGL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LLGL2
- genomics-online: gRNA clones - Search for available LLGL2 gRNA products
- Overview of 121 available LLGL2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for LLGL2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for LLGL2
- Browse OriGene Inhibitory RNA Products For LLGL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL2
- genomics-online: shRNA clones - Search for available LLGL2 shRNA products
- Overview of 121 available LLGL2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for LLGL2 - Select products 50% OFF >
- * LLGL2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * LLGL2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG211478
- MR211478
- MR211478L3
- MR211478L3V
- MR211478L4
- MR211478L4V
- MR231526
- RC209559
- RC209559L3
- RC209559L3V
- RC209559L4
- RC209559L4V
- RC212604
- RC212604L3
- RC212604L3V
- RC212604L4
- RC212604L4V
- RC212661
- RC212661L3
- RC212661L3V
- RC212661L4
- RC212661L4V
- RG209559
- RG212604
- RG212661
- RR212462
- RR212462L1
- RR212462L1V
- RR212462L2
- RR212462L2V
- RR212462L3
- RR212462L3V
- RR212462L4
- RR212462L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LLGL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LLGL2
- genomics-online: cdna clones - Search for available LLGL2 CDNA products
- Overview of 121 available LLGL2 gene related products
- orf clones - Search for available LLGL2 ORF products
- Overview of 121 available LLGL2 gene related products
| 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: |
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of LLGL2 Gene:
LLGL2SOURCE GeneReport for Unigene cluster for LLGL2 Gene:
Hs.514477Evidence on tissue expression from TISSUES for LLGL2 Gene
- Lung(4.3)
- Liver(4.2)
- Nervous system(4.2)
- Pancreas(2.9)
- Intestine(2.2)
Primer Products
-
OriGene qPCR primer pairs for LLGL2
- genomics-online: primer clones - Search for available LLGL2 Primer products
- Overview of 121 available LLGL2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LLGL2 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LLGL2 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LLGL2 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Llgl2 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Llgl2 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LLGL2 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LLGL2 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LLGL2 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LLGL2 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | llgl2 32 |
|
||
| Str.1582 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14793 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | llgl2 33 32 |
|
OneToOne | |
| Dr.3566 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | l(2)gl 33 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | lgl-1 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for LLGL2: view image
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
Variants for LLGL2 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111972085 | uncertain-significance, Pontoneocerebellar hypoplasia | 75,524,581(+) | T/C/G | upstream_transcript_variant | |
| rs11870627 | benign, likely-benign, not specified, Pontoneocerebellar hypoplasia, not provided | 75,524,404(+) | G/A/C | upstream_transcript_variant | |
| rs138560086 | benign, uncertain-significance, not specified, Pontoneocerebellar hypoplasia | 75,523,717(+) | C/T | upstream_transcript_variant | |
| rs144662042 | benign-likely-benign, likely-benign, benign, not specified, Pontoneocerebellar hypoplasia, not provided | 75,524,299(+) | C/T | upstream_transcript_variant | |
| rs150169668 | benign, likely-benign, not specified, not provided | 75,523,677(+) | C/G/T | upstream_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LLGL2 Gene
Disorders for LLGL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pontocerebellar hypoplasia, type 2a |
|
|
| pontoneocerebellar hypoplasia |
|
|
| retinitis pigmentosa 24 |
|
|
Search LLGL2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LLGL2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for LLGL2 Gene
Publications for LLGL2 Gene
- The human Lgl polarity gene, Hugl-2, induces MET and suppresses Snail tumorigenesis. (PMID: 22580609) Kashyap A … Strand D (Oncogene 2013) 2 3 56
- Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 43 56
- Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 43 56
- 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 43 56
- 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 56
ExternalLinks
Products for LLGL2 Gene
- Custom Antibody ServicesOriGene Antibodies for LLGL2
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- MG211478
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- RC212661L3
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- RG209559
- RG212604
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- RR212462
- RR212462L1
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- RR212462L2
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- RR212462L3
- RR212462L3V
- RR212462L4
- RR212462L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LLGL2
- Sino Biological Human cDNA Clone for LLGL2
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- Find your next knockout model in the Taconic Knockout Repository
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- antibodies-online: Show 13 available LLGL2 Antibodies ranked by validation data
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- antibodies-online: Show 5 available LLGL2 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for LLGL2
- Search Santa Cruz Biotechnology (SCBT) for LLGL2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LLGL2
- Horizon Cell Lines for LLGL2
- genomics-online: cdna clones - Search for available LLGL2 CDNA products
- Overview of 121 available LLGL2 gene related products
- orf clones - Search for available LLGL2 ORF products
- Overview of 121 available LLGL2 gene related products
- genomics-online: gRNA clones - Search for available LLGL2 gRNA products
- Overview of 121 available LLGL2 gene related products
- genomics-online: primer clones - Search for available LLGL2 Primer products
- Overview of 121 available LLGL2 gene related products
- genomics-online: shRNA clones - Search for available LLGL2 shRNA products
- Overview of 121 available LLGL2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LLGL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LLGL2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LLGL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL2
Sources for LLGL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
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- (113) Genetics Home Reference
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- (115) MedlinePlus
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- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
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- (135) dbSUPER
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- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
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- (147) Applied Biosystems
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- (149) Aminode
- (150) GeneCopoeia
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- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
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