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

Gene ID: 3993, updated on 3-Jun-2018
Official Symbol
LLGL2provided by HGNC
Official Full Name
LLGL2, scribble cell polarity complex componentprovided by HGNC
Primary source
HGNC:HGNC:6629
See related
Ensembl:ENSG00000073350 Vega:OTTHUMG00000179685
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
See LLGL2 in Genome Data Viewer
Location:
17q25.1
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (75525080..75575209)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73521783..73571290)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 94 Neighboring gene CASK interacting protein 2 Neighboring gene uncharacterized LOC107985023 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene myosin XVB Neighboring gene RecQ like helicase 5 Neighboring gene small integral membrane protein 5

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of establishment or maintenance of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of establishment or maintenance of cell polarity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
lethal(2) giant larvae protein homolog 2
Names
human giant larvae homolog
lethal giant larvae homolog 2, scribble cell polarity complex component

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_001015002.1NP_001015002.1  lethal(2) giant larvae protein homolog 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, OTTHUMP00000262113, ENST00000375227.8, OTTHUMT00000447632
    Conserved Domains (3) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:273343
    LLGL; LLGL2
  2. NM_001031803.1NP_001026973.1  lethal(2) giant larvae protein homolog 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
    UniProtKB/TrEMBL
    A0PJJ0
    Related
    ENSP00000376333.3, OTTHUMP00000262114, ENST00000392550.7, OTTHUMT00000447633
    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_004524.2NP_004515.2  lethal(2) giant larvae protein homolog 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, OTTHUMP00000262112, ENST00000167462.9, OTTHUMT00000447631
    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    75525080..75575209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524802.1XP_011523104.1  lethal(2) giant larvae protein homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_011523104.1

    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_017024625.1XP_016880114.1  lethal(2) giant larvae protein homolog 2 isoform X2

    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_017024628.1XP_016880117.1  lethal(2) giant larvae protein homolog 2 isoform X5

    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. XM_017024629.1XP_016880118.1  lethal(2) giant larvae protein homolog 2 isoform X6

    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_017024626.1XP_016880115.1  lethal(2) giant larvae protein homolog 2 isoform X3

    UniProtKB/Swiss-Prot
    Q6P1M3
    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. XM_017024627.1XP_016880116.1  lethal(2) giant larvae protein homolog 2 isoform X4

    UniProtKB/TrEMBL
    J3QRV5
    Related
    ENSP00000464397.1, OTTHUMP00000262117, ENST00000577200.5, OTTHUMT00000447636
    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  7. XM_017024630.1XP_016880119.1  lethal(2) giant larvae protein homolog 2 isoform X7

    UniProtKB/Swiss-Prot
    Q6P1M3
    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  8. XM_017024631.1XP_016880120.1  lethal(2) giant larvae protein homolog 2 isoform X8

    Conserved Domains (4) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:273371
    LLGL; LLGL2
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:383461
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  9. XM_024450747.1XP_024306515.1  lethal(2) giant larvae protein homolog 2 isoform X9

    Conserved Domains (3) summary
    COG2319
    Location:40262
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3672
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:273343
    LLGL; LLGL2

RNA

  1. XR_002957999.1 RNA Sequence

  2. XR_001752508.1 RNA Sequence

    Related
    ENST00000545227.6
  3. XR_002958003.1 RNA Sequence

  4. XR_002958000.1 RNA Sequence

  5. XR_002958001.1 RNA Sequence

  6. XR_002958005.1 RNA Sequence

  7. XR_002958002.1 RNA Sequence

  8. XR_002958004.1 RNA Sequence

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