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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bietti Crystalline Dystrophy Bietti crystalline corneoretinal dystrophy Pubtator 32302351 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 28114269
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30996345, 7529049
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36192404 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Ductal Ductal carcinoma Pubtator 30760857 Associate
★☆☆☆☆
Found in Text Mining only
Congenital disorder of glycosylation type 1B Congenital disorder of glycosylation Pubtator 24318287 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 23864775
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 23864775
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 36131361 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 36131361 Associate
★☆☆☆☆
Found in Text Mining only