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    Lrrc8e leucine rich repeat containing 8 family, member E [ Mus musculus (house mouse) ]

    Gene ID: 72267, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Lrrc8eprovided by MGI
    Official Full Name
    leucine rich repeat containing 8 family, member Eprovided by MGI
    Primary source
    MGI:MGI:1919517
    See related
    Ensembl:ENSMUSG00000046589 AllianceGenome:MGI:1919517
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1810049O03Rik
    Summary
    Predicted to contribute to volume-sensitive anion channel activity. Involved in cyclic-GMP-AMP transmembrane import across plasma membrane. Predicted to be located in cytoplasm and plasma membrane. Predicted to be integral component of endoplasmic reticulum membrane; integral component of lysosomal membrane; and integral component of plasma membrane. Predicted to be part of ion channel complex. Orthologous to human LRRC8E (leucine rich repeat containing 8 VRAC subunit E). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in adrenal adult (RPKM 4.6), bladder adult (RPKM 3.6) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lrrc8e in Genome Data Viewer
    Location:
    8 A1.1; 8 1.99 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (4274269..4287470)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (4224268..4237470)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4932443L11 gene Neighboring gene ecotropic viral integration site 5 like Neighboring gene STARR-seq mESC enhancer starr_20610 Neighboring gene proline rich 36 Neighboring gene mitogen-activated protein kinase kinase 7 Neighboring gene transforming growth factor, beta receptor III-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Renal Deletion of LRRC8/VRAC Channels Induces Proximal Tubulopathy. López-Cayuqueo KI, et al. J Am Soc Nephrol, 2022 Aug. PMID 35777784, Free PMC Article
    2. Transfer of cGAMP into Bystander Cells via LRRC8 Volume-Regulated Anion Channels Augments STING-Mediated Interferon Responses and Anti-viral Immunity. Zhou C, et al. Immunity, 2020 May 19. PMID 32277911
    3. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    4. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC91131

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to volume-sensitive anion channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables volume-sensitive anion channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aspartate transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell volume homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to osmotic stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cyclic-GMP-AMP transmembrane import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in monoatomic anion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic anion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of monoatomic ion channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of monoatomic ion channel complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    volume-regulated anion channel subunit LRRC8E
    Names
    leucine-rich repeat-containing protein 8E

    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_028175.2 → NP_082451.2  volume-regulated anion channel subunit LRRC8E

      See identical proteins and their annotated locations for NP_082451.2

      Status: VALIDATED

      Source sequence(s)
      AC123029, BC080783
      Consensus CDS
      CCDS22079.1
      UniProtKB/Swiss-Prot
      E9QNV5, Q66JT1
      Related
      ENSMUSP00000052055.7, ENSMUST00000053035.7
      Conserved Domains (4) summary
      PLN00113
      Location:412 → 756
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:606 → 771
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:559 → 582
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 330
      Pannexin_like; Pannexin-like TM region of LRRC8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      4274269..4287470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242086.4 → XP_011240388.1  volume-regulated anion channel subunit LRRC8E isoform X1

      See identical proteins and their annotated locations for XP_011240388.1

      UniProtKB/Swiss-Prot
      E9QNV5, Q66JT1
      Conserved Domains (4) summary
      PLN00113
      Location:412 → 756
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:606 → 771
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:559 → 582
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 330
      Pannexin_like; Pannexin-like TM region of LRRC8

    2. XM_006508908.3 → XP_006508971.1  volume-regulated anion channel subunit LRRC8E isoform X2

      Conserved Domains (3) summary
      PLN00113
      Location:37 → 381
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:231 → 396
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:184 → 207
      LRR_RI; leucine-rich repeat [structural motif]

    3. XM_006508907.3 → XP_006508970.1  volume-regulated anion channel subunit LRRC8E isoform X1

      See identical proteins and their annotated locations for XP_006508970.1

      UniProtKB/Swiss-Prot
      E9QNV5, Q66JT1
      Conserved Domains (4) summary
      PLN00113
      Location:412 → 756
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:606 → 771
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:559 → 582
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 330
      Pannexin_like; Pannexin-like TM region of LRRC8

    4. XM_006508906.4 → XP_006508969.1  volume-regulated anion channel subunit LRRC8E isoform X1

      See identical proteins and their annotated locations for XP_006508969.1

      UniProtKB/Swiss-Prot
      E9QNV5, Q66JT1
      Conserved Domains (4) summary
      PLN00113
      Location:412 → 756
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:606 → 771
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:559 → 582
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 330
      Pannexin_like; Pannexin-like TM region of LRRC8
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66JT1.2 GenPept UniProtKB/Swiss-Prot:Q66JT1

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