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    LRRC8E leucine rich repeat containing 8 VRAC subunit E [ Homo sapiens (human) ]

    Gene ID: 80131, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC8Eprovided by HGNC
    Official Full Name
    leucine rich repeat containing 8 VRAC subunit Eprovided by HGNC
    Primary source
    HGNC:HGNC:26272
    See related
    Ensembl:ENSG00000171017 MIM:612891; AllianceGenome:HGNC:26272
    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
    Summary
    This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Broad expression in skin (RPKM 1.3), prostate (RPKM 0.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC8E in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7888510..7902016)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7889464..7902971)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7953395..7966901)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LYPLA2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7953152-7953850 Neighboring gene RNA, 5S ribosomal pseudogene 463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7954740-7955240 Neighboring gene uncharacterized LOC124904630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7968039-7968616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7969265-7969804 Neighboring gene mitogen-activated protein kinase kinase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7980702-7981202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7981823-7982699 Neighboring gene transforming growth factor beta receptor 3 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7982700-7983575

    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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    Related articles in PubMed

    1. LRRC8 family proteins within lysosomes regulate cellular osmoregulation and enhance cell survival to multiple physiological stresses. Li P, et al. Proc Natl Acad Sci U S A, 2020 Nov 17. PMID 33139539, Free PMC Article
    2. LRRC8A:C/E Heteromeric Channels Are Ubiquitous Transporters of cGAMP. Lahey LJ, et al. Mol Cell, 2020 Nov 19. PMID 33171122
    3. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. Kubota K, et al. FEBS Lett, 2004 Apr 23. PMID 15094057
    4. Selective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels. Lutter D, et al. J Cell Sci, 2017 Mar 15. PMID 28193731
    5. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. Syeda R, et al. Cell, 2016 Jan 28. PMID 26824658, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes
      Title: LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of leucine rich repeat containing 8 family, member E (LRRC8E) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    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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    Homology

    Clone Names

    • FLJ23420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables volume-sensitive anion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aspartate transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell volume homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic anion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic anion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of monoatomic ion channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of monoatomic ion channel complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    volume-regulated anion channel subunit LRRC8E
    Names
    leucine rich repeat containing 8 family member E
    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.

    Genomic

    1. NG_050684.1 RefSeqGene

      Range
      5006..18512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001268284.3 → NP_001255213.1  volume-regulated anion channel subunit LRRC8E isoform 1

      See identical proteins and their annotated locations for NP_001255213.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC010336, AK091134, BX538180, CB049178, CF593782, KF459574
      Consensus CDS
      CCDS12189.1
      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
      Related
      ENSP00000479953.1, ENST00000618098.4
      Conserved Domains (4) summary
      cd00116
      Location:520 → 760
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:537 → 559
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 331
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:676 → 734
      LRR_8; Leucine rich repeat

    2. NM_001268285.3 → NP_001255214.1  volume-regulated anion channel subunit LRRC8E isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010336, AK091134, BX538180, CB049178, DA447942, KF459574
      UniProtKB/Swiss-Prot
      Q6NSJ5
      Conserved Domains (4) summary
      cd00116
      Location:391 → 606
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:408 → 430
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 202
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:547 → 605
      LRR_8; Leucine rich repeat

    3. NM_025061.6 → NP_079337.2  volume-regulated anion channel subunit LRRC8E isoform 1

      See identical proteins and their annotated locations for NP_079337.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK091134, BX538180, CB049178, KF459574
      Consensus CDS
      CCDS12189.1
      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
      Related
      ENSP00000306524.5, ENST00000306708.11
      Conserved Domains (4) summary
      cd00116
      Location:520 → 760
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:537 → 559
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 331
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:676 → 734
      LRR_8; Leucine rich repeat

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7888510..7902016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439461.1 → XP_047295417.1  volume-regulated anion channel subunit LRRC8E isoform X1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8

    2. XM_011528319.3 → XP_011526621.1  volume-regulated anion channel subunit LRRC8E isoform X1

      See identical proteins and their annotated locations for XP_011526621.1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
      Conserved Domains (4) summary
      cd00116
      Location:520 → 760
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:537 → 559
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 331
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:676 → 734
      LRR_8; Leucine rich repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7889464..7902971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322217.1 → XP_054178192.1  volume-regulated anion channel subunit LRRC8E isoform X1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8

    2. XM_054322218.1 → XP_054178193.1  volume-regulated anion channel subunit LRRC8E isoform X1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NSJ5.2 GenPept UniProtKB/Swiss-Prot:Q6NSJ5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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