Gene Gene information from NCBI Gene database.
Entrez ID 3993
Gene name LLGL scribble cell polarity complex component 2
Gene symbol LLGL2
Synonyms (NCBI Gene)
HGLHugl-2LGL2
Chromosome 17
Chromosome location 17q25.1
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
miRNA miRNA information provided by mirtarbase database.
147
miRTarBase ID miRNA Experiments Reference
MIRT018037 hsa-miR-335-5p Microarray 18185580
MIRT078708 hsa-miR-548ac PAR-CLIP 21572407
MIRT078722 hsa-miR-548bb-3p PAR-CLIP 21572407
MIRT078700 hsa-miR-548d-3p PAR-CLIP 21572407
MIRT078704 hsa-miR-548h-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001890 Process Placenta development IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005515 Function Protein binding IPI 12725730, 15632202, 24513855, 30996345
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 15632202
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618483 6629 ENSG00000073350
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1M3
Protein name LLGL scribble cell polarity complex component 2 (HGL) (Lethal(2) giant larvae protein homolog 2)
Protein 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 epitheli
PDB 3WP0 , 3WP1 , 6N8P , 6N8Q , 6N8R , 6N8S , 8R3X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08366 LLGL 271 372 LLGL2 Family
PF00400 WD40 414 451 WD domain, G-beta repeat Repeat
Sequence
MRRFLRPGHDPVRERLKRDLFQFNKTVEHGFPHQPSALGYSPSLRILAIGTRSGAIKLYG
APGVEFMGLHQENNAVTQIHLLPGQCQLVTLLDDNSLHLWSLKVKGGASELQEDESFTLR
GPPGAAPSATQITVVLPHSSCELLYLGTESGNVFVVQLPAFRALEDRTISSDAVLQRLPE
EARHRRVFEMVEALQEHPRDPNQILIGYSRGLVVIWDLQGSRVLYHFLSSQQLENIWWQR
DGRLLVSCHSDGSYCQWPVSSEAQQPEPLRSLVPYGPFPCKAITRILWLTTRQGLPFTIF
QGGMPRASYGDRHCISVIHDGQQTAFDFTSRVIGFTVLTEADPAATFDDPYALVVLAEEE
LVVIDLQTAGWP
PVQLPYLASLHCSAITCSHHVSNIPLKLWERIIAAGSRQNAHFSTMEW
PIDGGTSLTPAPPQRDLLLTGHEDGTVRFWD
ASGVCLRLLYKLSTVRVFLTDTDPNENFS
AQGEDEWPPLRKVGSFDPYSDDPRLGIQKIFLCKYSGYLAVAGTAGQVLVLELNDEAAEQ
AVEQVEADLLQDQEGYRWKGHERLAARSGPVRFEPGFQPFVLVQCQPPAVVTSLALHSEW
RLVAFGTSHGFGLFDHQQRRQVFVKCTLHPSDQLALEGPLSRVKSLKKSLRQSFRRMRRS
RVSSRKRHPAGPPGEAQEGSAKAERPGLQNMELAPVQRKIEARSAEDSFTGFVRTLYFAD
TYLKDSSRHCPSLWAGTNGGTIYAFSLRVPPAERRMDEPVRAEQAKEIQLMHRAPVVGIL
VLDGHSVPLPEPLEVAHDLSKSPDMQGSHQLLVVSEEQFKVFTLPKVSAKLKLKLTALEG
SRVRRVSVAHFGSRRAEDYGEHHLAVLTNLGDIQVVSLPLLKPQVRYSCIRREDVSGIAS
CVFTKYGQGFYLISPSEFERFSLSTKWLVEPRCLVDSAETKNHRPGNGAGPKKAPSRARN
SGTQSDGEEKQPGLVMERALLSDERVLKEIQSTLEGDRGSGNWRSHRAAVGCSLSNGGAE
Sequence length 1020
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Hippo signaling pathway
Tight junction
Human papillomavirus infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs115615615 RCV005903788
Cervical cancer Benign rs115615615 RCV005903790
Clear cell carcinoma of kidney Benign rs35474687 RCV005902943
Lung cancer Benign rs115615615 RCV005903793
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24318287
Bietti Crystalline Dystrophy Associate 32302351
Breast Neoplasms Associate 36192404
Carcinoma Ductal Associate 30760857
Congenital disorder of glycosylation type 1B Associate 24318287
Esophageal Neoplasms Associate 36131361
Esophageal Squamous Cell Carcinoma Associate 36131361
Hypertension Associate 25813534
Leukemia Myeloid Acute Associate 22371884
Lymphatic Diseases Associate 24318287