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

    Gene ID: 3993, updated on 10-Dec-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LLGL2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75525002..75575209)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76418368..76468378)
    RS_2024_09 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 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

    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_2024_08

    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