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

Gene ID: 80131, updated on 3-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
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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 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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

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