• Gene id: 3993

Gene Summary

• Gene Symbol: LLGL2   Gene   UCSC   Ensembl
• Aliases: HGL, Hugl-2, LGL2
• Gene name: LLGL scribble cell polarity complex component 2
• Alternate names: LLGL scribble cell polarity complex component 2, LLGL2, scribble cell polarity complex component, human giant larvae homolog, lethal giant larvae homolog 2, scribble cell polarity complex component, lethal(2) giant larvae protein homolog 2,
• Gene location: 17q25.1 (75525079: 75575208)     Exons: 33     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 603328

Protein Summary

• Protein general information: Q6P1M3  
  • Name: LLGL scribble cell polarity complex component 2 (HGL) (Lethal(2) giant larvae protein homolog 2)
  • Length: 1020  
  • Mass: 113448
• Sequence:

  MRRFLRPGHDPVRERLKRDLFQFNKTVEHGFPHQPSALGYSPSLRILAIGTRSGAIKLYGAPGVEFMGLHQENNA
  VTQIHLLPGQCQLVTLLDDNSLHLWSLKVKGGASELQEDESFTLRGPPGAAPSATQITVVLPHSSCELLYLGTES
  GNVFVVQLPAFRALEDRTISSDAVLQRLPEEARHRRVFEMVEALQEHPRDPNQILIGYSRGLVVIWDLQGSRVLY
  HFLSSQQLENIWWQRDGRLLVSCHSDGSYCQWPVSSEAQQPEPLRSLVPYGPFPCKAITRILWLTTRQGLPFTIF
  QGGMPRASYGDRHCISVIHDGQQTAFDFTSRVIGFTVLTEADPAATFDDPYALVVLAEEELVVIDLQTAGWPPVQ
  LPYLASLHCSAITCSHHVSNIPLKLWERIIAAGSRQNAHFSTMEWPIDGGTSLTPAPPQRDLLLTGHEDGTVRFW
  DASGVCLRLLYKLSTVRVFLTDTDPNENFSAQGEDEWPPLRKVGSFDPYSDDPRLGIQKIFLCKYSGYLAVAGTA
  GQVLVLELNDEAAEQAVEQVEADLLQDQEGYRWKGHERLAARSGPVRFEPGFQPFVLVQCQPPAVVTSLALHSEW
  RLVAFGTSHGFGLFDHQQRRQVFVKCTLHPSDQLALEGPLSRVKSLKKSLRQSFRRMRRSRVSSRKRHPAGPPGE
  AQEGSAKAERPGLQNMELAPVQRKIEARSAEDSFTGFVRTLYFADTYLKDSSRHCPSLWAGTNGGTIYAFSLRVP
  PAERRMDEPVRAEQAKEIQLMHRAPVVGILVLDGHSVPLPEPLEVAHDLSKSPDMQGSHQLLVVSEEQFKVFTLP
  KVSAKLKLKLTALEGSRVRRVSVAHFGSRRAEDYGEHHLAVLTNLGDIQVVSLPLLKPQVRYSCIRREDVSGIAS
  CVFTKYGQGFYLISPSEFERFSLSTKWLVEPRCLVDSAETKNHRPGNGAGPKKAPSRARNSGTQSDGEEKQPGLV
  MERALLSDERVLKEIQSTLEGDRGSGNWRSHRAAVGCSLSNGGAE

• Structural information:
  • Interpro: IPR000664  IPR013577  IPR015943  IPR001680  IPR019775   IPR036322  
  • Prosite: PS00678 PS50082
  • PDB: 3WP0 3WP1 6N8P 6N8Q 6N8R 6N8S
  • PDBsum: 3WP0 3WP1 6N8P 6N8Q 6N8R 6N8S
  • STRING: ENSP00000376333
• Other Databases: GeneCards:  LLGL2  Malacards:  LLGL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0008593	regulation of Notch signaling pathway	IBA	biological process
GO:0030864	cortical actin cytoskeleton	IBA	cellular component
GO:0050708	regulation of protein secretion	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IBA	biological process
GO:0032878	regulation of establishment or maintenance of cell polarity	IBA	biological process
GO:0045159	myosin II binding	IBA	molecular function
GO:0051294	establishment of spindle orientation	IBA	biological process
GO:0015820	leucine transport	IMP	biological process
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051301	cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0032878	regulation of establishment or maintenance of cell polarity	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04530	Tight junction
hsa04390	Hippo signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq