Gene: LLGL2

Alternate names for this Gene: HGL|Hugl-2|LGL2

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: LLGL scribble cell polarity complex component 2

Type of Gene: protein-coding

rs9892893 in LLGL2 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs9910589 in LLGL2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9892893 in LLGL2 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.