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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]
LLGL2 (LLGL Scribble Cell Polarity Complex Component 2) is a Protein Coding gene. Among its related pathways are Actin Nucleation by ARP-WASP Complex 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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IBA,IDA | 15632202 |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0030864 | cortical actin cytoskeleton | IBA | 21873635 |
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
|
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LLGL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LLGL2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LLGL2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Llgl2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Llgl2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LLGL2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LLGL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LLGL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LLGL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | llgl2 30 |
|
||
Str.1582 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14793 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | llgl2 30 31 |
|
OneToOne | |
Dr.3566 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)gl 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lgl-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714862 | Benign: not provided | 75,574,623(+) | C/T | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
722304 | Benign: not provided | 75,563,372(+) | C/T | SYNONYMOUS_VARIANT | |
736089 | Benign: not provided | 75,571,733(+) | G/A | MISSENSE_VARIANT | |
736090 | Benign: not provided | 75,573,500(+) | C/T | SYNONYMOUS_VARIANT | |
769435 | Benign: not provided | 75,571,720(+) | G/A | MISSENSE_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 |
No disorders were found for LLGL2 Gene.