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

Gene ID: 3993, updated on 1-Mar-2024

Summary

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
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Genomic context

See LLGL2 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 leucine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
involved_in regulation of protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
 
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

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)

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_001015002.2NP_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:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271342
    LLGL; LLGL2
  2. NM_001031803.2NP_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:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271371
    LLGL; LLGL2
  3. NM_004524.3NP_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:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271371
    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_017024626.2XP_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:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271371
    LLGL; LLGL2
  2. XM_011524802.2XP_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:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:271371
    LLGL; LLGL2
  3. XM_047435995.1XP_047291951.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  4. XM_047435986.1XP_047291942.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47, J3QRV5
  5. XM_047435975.1XP_047291931.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  6. XM_047435981.1XP_047291937.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62
    UniProtKB/TrEMBL
    B3KX47
  7. XM_047435985.1XP_047291941.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47, J3QRV5
  8. XM_047435990.1XP_047291946.1  LLGL scribble cell polarity complex component 2 isoform X7

    UniProtKB/TrEMBL
    B3KX47
  9. XM_047435973.1XP_047291929.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  10. XM_047435980.1XP_047291936.1  LLGL scribble cell polarity complex component 2 isoform X2

    UniProtKB/TrEMBL
    B3KX47
  11. XM_047435988.1XP_047291944.1  LLGL scribble cell polarity complex component 2 isoform X5

    UniProtKB/TrEMBL
    B3KX47
  12. XM_047435989.1XP_047291945.1  LLGL scribble cell polarity complex component 2 isoform X6

    UniProtKB/TrEMBL
    B3KX47
  13. XM_047435984.1XP_047291940.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47, J3QRV5
    Related
    ENSP00000464397.1, ENST00000577200.5
  14. XM_047435992.1XP_047291948.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  15. XM_047435996.1XP_047291952.1  LLGL scribble cell polarity complex component 2 isoform X9

    UniProtKB/TrEMBL
    B3KX47
  16. XM_047435979.1XP_047291935.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  17. XM_047435974.1XP_047291930.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  18. XM_047435991.1XP_047291947.1  LLGL scribble cell polarity complex component 2 isoform X7

    UniProtKB/TrEMBL
    B3KX47
  19. XM_047435987.1XP_047291943.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47, J3QRV5
  20. XM_047435998.1XP_047291954.1  LLGL scribble cell polarity complex component 2 isoform X11

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

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62
    UniProtKB/TrEMBL
    B3KX47
  22. XM_047435994.1XP_047291950.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  23. XM_047435993.1XP_047291949.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  24. XM_024450747.2XP_024306515.2  LLGL scribble cell polarity complex component 2 isoform X7

    UniProtKB/TrEMBL
    B3KX47
  25. XM_047435983.1XP_047291939.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q14521, Q6P1M3, Q9BR62
    UniProtKB/TrEMBL
    B3KX47
  26. XM_047435976.1XP_047291932.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  27. XM_047435978.1XP_047291934.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  28. XM_047435977.1XP_047291933.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  29. XM_047435997.1XP_047291953.1  LLGL scribble cell polarity complex component 2 isoform X10

    UniProtKB/TrEMBL
    B3KX47

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_054316069.1XP_054172044.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/TrEMBL
    B3KX47
  2. XM_054316062.1XP_054172037.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  3. XM_054316084.1XP_054172059.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  4. XM_054316074.1XP_054172049.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47
  5. XM_054316061.1XP_054172036.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  6. XM_054316068.1XP_054172043.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/TrEMBL
    B3KX47
  7. XM_054316073.1XP_054172048.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47
  8. XM_054316078.1XP_054172053.1  LLGL scribble cell polarity complex component 2 isoform X7

    UniProtKB/TrEMBL
    B3KX47
  9. XM_054316059.1XP_054172034.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  10. XM_054316067.1XP_054172042.1  LLGL scribble cell polarity complex component 2 isoform X2

    UniProtKB/TrEMBL
    B3KX47
  11. XM_054316076.1XP_054172051.1  LLGL scribble cell polarity complex component 2 isoform X5

    UniProtKB/TrEMBL
    B3KX47
  12. XM_054316077.1XP_054172052.1  LLGL scribble cell polarity complex component 2 isoform X6

    UniProtKB/TrEMBL
    B3KX47
  13. XM_054316072.1XP_054172047.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47
  14. XM_054316081.1XP_054172056.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  15. XM_054316085.1XP_054172060.1  LLGL scribble cell polarity complex component 2 isoform X9

    UniProtKB/TrEMBL
    B3KX47
  16. XM_054316066.1XP_054172041.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  17. XM_054316060.1XP_054172035.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  18. XM_054316079.1XP_054172054.1  LLGL scribble cell polarity complex component 2 isoform X7

    UniProtKB/TrEMBL
    B3KX47
  19. XM_054316075.1XP_054172050.1  LLGL scribble cell polarity complex component 2 isoform X4

    UniProtKB/TrEMBL
    B3KX47
  20. XM_054316087.1XP_054172062.1  LLGL scribble cell polarity complex component 2 isoform X11

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

    UniProtKB/TrEMBL
    B3KX47
  22. XM_054316083.1XP_054172058.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  23. XM_054316082.1XP_054172057.1  LLGL scribble cell polarity complex component 2 isoform X8

    UniProtKB/TrEMBL
    B3KX47
  24. XM_054316080.1XP_054172055.1  LLGL scribble cell polarity complex component 2 isoform X7

    UniProtKB/TrEMBL
    B3KX47
  25. XM_054316071.1XP_054172046.1  LLGL scribble cell polarity complex component 2 isoform X3

    UniProtKB/TrEMBL
    B3KX47
  26. XM_054316063.1XP_054172038.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  27. XM_054316065.1XP_054172040.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  28. XM_054316064.1XP_054172039.1  LLGL scribble cell polarity complex component 2 isoform X1

    UniProtKB/TrEMBL
    B3KX47
  29. XM_054316086.1XP_054172061.1  LLGL scribble cell polarity complex component 2 isoform X10

    UniProtKB/TrEMBL
    B3KX47