U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LLGL2 LLGL scribble cell polarity complex component 2 [ Homo sapiens (human) ]

Gene ID: 3993, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
LLGL2provided by HGNC
Official Full Name
LLGL scribble cell polarity complex component 2provided by HGNC
Primary source
HGNC:HGNC:6629
See related
Ensembl:ENSG00000073350 MIM:618483; AllianceGenome:HGNC:6629
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HGL; LGL2; Hugl-2
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. [provided by RefSeq, Jul 2008]
Expression
Broad expression in stomach (RPKM 24.5), colon (RPKM 24.0) and 22 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q25.1
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75525002..75575209)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76418368..76468378)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73521778..73571290)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 94 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12766 Neighboring gene CASK interacting protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73510728-73511294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8969 Neighboring gene Sharpr-MPRA regulatory region 12010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8971 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73521300-73521484 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73537609-73538426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73540787-73541589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73548510-73549090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553000-73553936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553937-73554872 Neighboring gene Sharpr-MPRA regulatory region 3602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12769 Neighboring gene Sharpr-MPRA regulatory region 12965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73583697-73584530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73584531-73585362 Neighboring gene myosin XVB Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73628586-73629266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73629267-73629946 Neighboring gene RecQ like helicase 5 Neighboring gene small integral membrane protein 5

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Solving the structure of Lgl2, a difficult blind test of unsupervised structure determination. Ufimtsev IS, et al. Proc Natl Acad Sci U S A, 2019 May 28. PMID 31088964, Free PMC Article
  2. Structural insights into the aPKC regulatory switch mechanism of the human cell polarity protein lethal giant larvae 2. Almagor L, et al. Proc Natl Acad Sci U S A, 2019 May 28. PMID 31088962, Free PMC Article
  3. Distinguishing Barrett gastric foveolar dysplasia from reactive cardiac mucosa in gastroesophageal reflux disease. Patil DT, et al. Hum Pathol, 2013 Jun. PMID 23332925
  4. Immunohistochemistry for cell polarity protein lethal giant larvae 2 differentiates pancreatic intraepithelial neoplasia-3 and ductal adenocarcinoma of the pancreas from lower-grade pancreatic intraepithelial neoplasias. Lisovsky M, et al. Hum Pathol, 2010 Jun. PMID 20233622
  5. Cell polarity protein Lgl2 is lost or aberrantly localized in gastric dysplasia and adenocarcinoma: an immunohistochemical study. Lisovsky M, et al. Mod Pathol, 2009 Jul. PMID 19407852

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Co-expression effect of LLGL2 and SLC7A5 to predict prognosis in ERalpha-positive breast cancer.
    Title: Co-expression effect of LLGL2 and SLC7A5 to predict prognosis in ERα-positive breast cancer.
  2. A human cell polarity protein Lgl2 regulates influenza A virus nucleoprotein exportation from nucleus in MDCK cells.
    Title: A human cell polarity protein Lgl2 regulates influenza A virus nucleoprotein exportation from nucleus in MDCK cells.
  3. Study and determination of the crystal structure of lethal giant larvae homolog 2 (Lgl2).
    Title: Solving the structure of Lgl2, a difficult blind test of unsupervised structure determination.
  4. The crystal structures of human lethal giant larvae homolog 2 (Lgl2) in both its unphosphorylated and atypical protein kinase C(aPKC) phosphorylated states are presented and investigated in this article.
    Title: Structural insights into the aPKC regulatory switch mechanism of the human cell polarity protein lethal giant larvae 2.
  5. LLGL2 functions as a promoter of tumour growth and not as a tumour suppressor in ER(+) breast cancer; beyond breast cancer, adaptation to nutrient stress is critically important, and findings identify an unexpected role for LLGL2 in this process
    Title: LLGL2 rescues nutrient stress by promoting leucine uptake in ER(+) breast cancer.
  6. The crystal structures of the Dlg4 GK domain in complex with two phosphor-Lgl2 peptides reveal the molecular mechanism underlying the specific and phosphorylation-dependent Dlg/Lgl complex formation.
    Title: Phosphorylation-dependent interaction between tumor suppressors Dlg and Lgl.
  7. It is correlated with lymphatic invasion and lymph node metastasis.
    Title: Localization of aPKC lambda/iota and its interacting protein, Lgl2, is significantly associated with lung adenocarcinoma progression.
  8. Loss or aberrant Lgl2 staining was useful in identifying Barrett gastric foveolar dysplasia
    Title: Distinguishing Barrett gastric foveolar dysplasia from reactive cardiac mucosa in gastroesophageal reflux disease.
  9. Hugl-2 induces MET and suppresses Snail tumorigenesis.
    Title: The human Lgl polarity gene, Hugl-2, induces MET and suppresses Snail tumorigenesis.
  10. Hugl1 and Hugl2 play an essential role in the maintenance of breast epithelial polarity and differentiated cell morphology, as well as growth control.
    Title: Hugl1 and Hugl2 in mammary epithelial cells: polarity, proliferation, and differentiation.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables myosin II binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-leucine transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment of spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of establishment or maintenance of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of establishment or maintenance of cell polarity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in adherens junction NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
LLGL scribble cell polarity complex component 2
Names
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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001015002.2 → NP_001015002.1  LLGL scribble cell polarity complex component 2 isoform b

    See identical proteins and their annotated locations for NP_001015002.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 3. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform c.
    Source sequence(s)
    AC100787, BC006503
    Consensus CDS
    CCDS45776.1
    UniProtKB/Swiss-Prot
    Q6P1M3
    Related
    ENSP00000364375.4, ENST00000375227.8
    Conserved Domains (3) summary
    COG2319
    Location:40 → 262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:36 → 72
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271 → 342
    LLGL; LLGL2

  2. NM_001031803.2 → NP_001026973.1  LLGL scribble cell polarity complex component 2 isoform c

    See identical proteins and their annotated locations for NP_001026973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AC100787, BC031842, BC064994, X87342
    Consensus CDS
    CCDS32733.1
    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62
    UniProtKB/TrEMBL
    B3KX47
    Related
    ENSP00000376333.4, ENST00000392550.8
    Conserved Domains (3) summary
    COG2319
    Location:40 → 262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:36 → 72
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271 → 371
    LLGL; LLGL2

  3. NM_004524.3 → NP_004515.2  LLGL scribble cell polarity complex component 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate exon in the coding region compared to variant 3, that causes a frameshift. The resulting isoform (a) is shorter and has a distinct C-terminus compared to isoform c.
    Source sequence(s)
    AC100787, BC031842, X87342
    Consensus CDS
    CCDS11725.1
    UniProtKB/TrEMBL
    B3KX47
    Related
    ENSP00000167462.5, ENST00000167462.9
    Conserved Domains (3) summary
    COG2319
    Location:40 → 262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:36 → 72
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271 → 371
    LLGL; LLGL2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75525002..75575209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024626.2 → XP_016880115.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62
    UniProtKB/TrEMBL
    B3KX47
    Conserved Domains (3) summary
    COG2319
    Location:40 → 262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:36 → 72
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271 → 371
    LLGL; LLGL2

  2. XM_011524802.2 → XP_011523104.1  LLGL scribble cell polarity complex component 2 isoform X1

    See identical proteins and their annotated locations for XP_011523104.1

    UniProtKB/TrEMBL
    B3KX47
    Conserved Domains (3) summary
    COG2319
    Location:40 → 262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:36 → 72
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271 → 371
    LLGL; LLGL2

  3. XM_047435995.1 → XP_047291951.1  LLGL scribble cell polarity complex component 2 isoform X8

  4. XM_047435986.1 → XP_047291942.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    J3QRV5

  5. XM_047435975.1 → XP_047291931.1  LLGL scribble cell polarity complex component 2 isoform X1

  6. XM_047435981.1 → XP_047291937.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62

  7. XM_047435985.1 → XP_047291941.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    J3QRV5

  8. XM_047435990.1 → XP_047291946.1  LLGL scribble cell polarity complex component 2 isoform X7

  9. XM_047435973.1 → XP_047291929.1  LLGL scribble cell polarity complex component 2 isoform X1

  10. XM_047435980.1 → XP_047291936.1  LLGL scribble cell polarity complex component 2 isoform X2

  11. XM_047435988.1 → XP_047291944.1  LLGL scribble cell polarity complex component 2 isoform X5

  12. XM_047435989.1 → XP_047291945.1  LLGL scribble cell polarity complex component 2 isoform X6

  13. XM_047435984.1 → XP_047291940.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    J3QRV5
    Related
    ENSP00000464397.1, ENST00000577200.5

  14. XM_047435992.1 → XP_047291948.1  LLGL scribble cell polarity complex component 2 isoform X8

  15. XM_047435996.1 → XP_047291952.1  LLGL scribble cell polarity complex component 2 isoform X9

  16. XM_047435979.1 → XP_047291935.1  LLGL scribble cell polarity complex component 2 isoform X1

  17. XM_047435974.1 → XP_047291930.1  LLGL scribble cell polarity complex component 2 isoform X1

  18. XM_047435991.1 → XP_047291947.1  LLGL scribble cell polarity complex component 2 isoform X7

  19. XM_047435987.1 → XP_047291943.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    J3QRV5

  20. XM_047435998.1 → XP_047291954.1  LLGL scribble cell polarity complex component 2 isoform X11

  21. XM_047435982.1 → XP_047291938.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62

  22. XM_047435994.1 → XP_047291950.1  LLGL scribble cell polarity complex component 2 isoform X8

  23. XM_047435993.1 → XP_047291949.1  LLGL scribble cell polarity complex component 2 isoform X8

  24. XM_024450747.2 → XP_024306515.2  LLGL scribble cell polarity complex component 2 isoform X7

  25. XM_047435983.1 → XP_047291939.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62

  26. XM_047435976.1 → XP_047291932.1  LLGL scribble cell polarity complex component 2 isoform X1

  27. XM_047435978.1 → XP_047291934.1  LLGL scribble cell polarity complex component 2 isoform X1

  28. XM_047435977.1 → XP_047291933.1  LLGL scribble cell polarity complex component 2 isoform X1

  29. XM_047435997.1 → XP_047291953.1  LLGL scribble cell polarity complex component 2 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76418368..76468378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316069.1 → XP_054172044.1  LLGL scribble cell polarity complex component 2 isoform X3

  2. XM_054316062.1 → XP_054172037.1  LLGL scribble cell polarity complex component 2 isoform X1

  3. XM_054316084.1 → XP_054172059.1  LLGL scribble cell polarity complex component 2 isoform X8

  4. XM_054316074.1 → XP_054172049.1  LLGL scribble cell polarity complex component 2 isoform X4

  5. XM_054316061.1 → XP_054172036.1  LLGL scribble cell polarity complex component 2 isoform X1

  6. XM_054316068.1 → XP_054172043.1  LLGL scribble cell polarity complex component 2 isoform X3

  7. XM_054316073.1 → XP_054172048.1  LLGL scribble cell polarity complex component 2 isoform X4

  8. XM_054316078.1 → XP_054172053.1  LLGL scribble cell polarity complex component 2 isoform X7

  9. XM_054316059.1 → XP_054172034.1  LLGL scribble cell polarity complex component 2 isoform X1

  10. XM_054316067.1 → XP_054172042.1  LLGL scribble cell polarity complex component 2 isoform X2

  11. XM_054316076.1 → XP_054172051.1  LLGL scribble cell polarity complex component 2 isoform X5

  12. XM_054316077.1 → XP_054172052.1  LLGL scribble cell polarity complex component 2 isoform X6

  13. XM_054316072.1 → XP_054172047.1  LLGL scribble cell polarity complex component 2 isoform X4

  14. XM_054316081.1 → XP_054172056.1  LLGL scribble cell polarity complex component 2 isoform X8

  15. XM_054316085.1 → XP_054172060.1  LLGL scribble cell polarity complex component 2 isoform X9

  16. XM_054316066.1 → XP_054172041.1  LLGL scribble cell polarity complex component 2 isoform X1

  17. XM_054316060.1 → XP_054172035.1  LLGL scribble cell polarity complex component 2 isoform X1

  18. XM_054316079.1 → XP_054172054.1  LLGL scribble cell polarity complex component 2 isoform X7

  19. XM_054316075.1 → XP_054172050.1  LLGL scribble cell polarity complex component 2 isoform X4

  20. XM_054316087.1 → XP_054172062.1  LLGL scribble cell polarity complex component 2 isoform X11

  21. XM_054316070.1 → XP_054172045.1  LLGL scribble cell polarity complex component 2 isoform X3

  22. XM_054316083.1 → XP_054172058.1  LLGL scribble cell polarity complex component 2 isoform X8

  23. XM_054316082.1 → XP_054172057.1  LLGL scribble cell polarity complex component 2 isoform X8

  24. XM_054316080.1 → XP_054172055.1  LLGL scribble cell polarity complex component 2 isoform X7

  25. XM_054316071.1 → XP_054172046.1  LLGL scribble cell polarity complex component 2 isoform X3

  26. XM_054316063.1 → XP_054172038.1  LLGL scribble cell polarity complex component 2 isoform X1

  27. XM_054316065.1 → XP_054172040.1  LLGL scribble cell polarity complex component 2 isoform X1

  28. XM_054316064.1 → XP_054172039.1  LLGL scribble cell polarity complex component 2 isoform X1

  29. XM_054316086.1 → XP_054172061.1  LLGL scribble cell polarity complex component 2 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P1M3.2 GenPept UniProtKB/Swiss-Prot:Q6P1M3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous