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

Gene ID: 3993, updated on 6-Sep-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75525002..75575209)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76419063..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 CASK interacting protein 2 Neighboring gene Sharpr-MPRA regulatory region 12010 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene Sharpr-MPRA regulatory region 12965 Neighboring gene myosin XVB

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in adherens junction IC
Inferred by Curator
more info
PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

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)

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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
    Q6P1M3, Q9BR62
    UniProtKB/TrEMBL
    A0PJJ0
    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/Swiss-Prot
    Q6P1M3
    UniProtKB/TrEMBL
    A0PJJ0
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q6P1M3, Q9BR62
    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

    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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    UniProtKB/TrEMBL
    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
    Q9BR62
  22. XM_047435994.1XP_047291950.1  LLGL scribble cell polarity complex component 2 isoform X8

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

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

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

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

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

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

  29. XM_047435997.1XP_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
    76419063..76468378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)