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

    Gene ID: 3993, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel role of LLGL2 silencing in autophagy: reversing epithelial-mesenchymal transition in prostate cancer.
      Title: Novel role of LLGL2 silencing in autophagy: reversing epithelial-mesenchymal transition in prostate cancer.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. Hugl-2 induces MET and suppresses Snail tumorigenesis.
      Title: The human Lgl polarity gene, Hugl-2, induces MET and suppresses Snail tumorigenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_001015002.2 → 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_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_017024626.2 → 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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47, J3QRV5

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/Swiss-Prot
      Q14521, Q6P1M3, Q9BR62
      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47, J3QRV5

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47, J3QRV5
      Related
      ENSP00000464397.1, ENST00000577200.5

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47, 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
      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/Swiss-Prot
      Q14521, Q6P1M3, Q9BR62
      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

    29. XM_047435997.1 → XP_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_054316069.1 → XP_054172044.1  LLGL scribble cell polarity complex component 2 isoform X3

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

    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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47

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

      UniProtKB/TrEMBL
      B3KX47
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1M3.2 GenPept UniProtKB/Swiss-Prot:Q6P1M3

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