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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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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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