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Aliases for LRRC8E Gene

Aliases for LRRC8E Gene

  • Leucine Rich Repeat Containing 8 VRAC Subunit E 2 3
  • Leucine Rich Repeat Containing 8 Family Member E 2 5
  • Leucine-Rich Repeat-Containing Protein 8E 4

External Ids for LRRC8E Gene

Previous GeneCards Identifiers for LRRC8E Gene

  • GC19P007860
  • GC19P007953
  • GC19P007623

Summaries for LRRC8E Gene

Entrez Gene Summary for LRRC8E Gene

  • 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]

GeneCards Summary for LRRC8E Gene

LRRC8E (Leucine Rich Repeat Containing 8 VRAC Subunit E) is a Protein Coding gene. An important paralog of this gene is LRRC8C.

UniProtKB/Swiss-Prot for LRRC8E Gene

  • Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.

Gene Wiki entry for LRRC8E Gene

Additional gene information for LRRC8E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC8E Gene

Genomics for LRRC8E Gene

Regulatory Elements for LRRC8E Gene

Enhancers for LRRC8E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H007852 1.6 Ensembl ENCODE dbSUPER 12.3 -35.0 -35042 1 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3 PRR36 RNA5SP463 LRRC8E EVI5L ENSG00000268120
GH19H007832 1.4 Ensembl ENCODE dbSUPER 10 -54.8 -54824 2 TBP ATF1 FOXA2 MLX SREBF2 DMAP1 ZBTB40 RFX5 POLR3A SCRT2 LRRC8E PRR36 EVI5L ENSG00000268120
GH19H007829 1.3 ENCODE dbSUPER 10 -58.3 -58257 2 HDGF PKNOX1 FOXA2 ATF1 ZNF133 ZBTB7B YY1 TCF12 GLIS2 GATA2 ELAVL1 HNRNPM ZNF557 XAB2 PRR36 LRRC8E EVI5L ENSG00000268120
GH19H007860 1.2 Ensembl ENCODE dbSUPER 9.5 -26.0 -26049 4 CTCF KLF1 ZNF740 NRF1 ZKSCAN1 SP1 GLIS2 POLR2A EGR1 GLIS1 CLEC4G EVI5L LRRC8E PRR36 ENSG00000268120
GH19H007799 1.1 Ensembl ENCODE 9.9 -88.6 -88605 1 GTF2F1 CTCF KLF17 CHD7 RAD21 RELA RFX5 E2F1 CC2D1A ZFHX2 TRAPPC5 MCEMP1 CLEC4G RPL21P129 CD209 XAB2 PET100 LRRC8E PRR36 EXOSC3P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRC8E on UCSC Golden Path with GeneCards custom track

Promoters for LRRC8E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106742 95 801 TBP RB1 ZFP64 INSM2 ARID4B ZNF76 KLF17 DMAP1 GLIS2 ATF7

Genomic Location for LRRC8E Gene

Chromosome:
19
Start:
7,888,505 bp from pter
End:
7,902,023 bp from pter
Size:
13,519 bases
Orientation:
Plus strand

Genomic View for LRRC8E Gene

Genes around LRRC8E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC8E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC8E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8E Gene

Proteins for LRRC8E Gene

  • Protein details for LRRC8E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NSJ5-LRC8E_HUMAN
    Recommended name:
    Volume-regulated anion channel subunit LRRC8E
    Protein Accession:
    Q6NSJ5
    Secondary Accessions:
    • B3KR78
    • Q2YDY3
    • Q7L236
    • Q8N3B0
    • Q9H5H8

    Protein attributes for LRRC8E Gene

    Size:
    796 amino acids
    Molecular mass:
    90247 Da
    Quaternary structure:
    • Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8B), possibly to form a heterohexamer (PubMed:24790029, PubMed:26824658). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable).
    SequenceCaution:
    • Sequence=BAB15648.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15648.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

neXtProt entry for LRRC8E Gene

Post-translational modifications for LRRC8E Gene

  • Glycosylation at Asn63 and Asn302
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRRC8E Gene

Domains & Families for LRRC8E Gene

Gene Families for LRRC8E Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for LRRC8E Gene

Suggested Antigen Peptide Sequences for LRRC8E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NSJ5

UniProtKB/Swiss-Prot:

LRC8E_HUMAN :
  • Belongs to the LRRC8 family.
Family:
  • Belongs to the LRRC8 family.
genes like me logo Genes that share domains with LRRC8E: view

Function for LRRC8E Gene

Molecular function for LRRC8E Gene

UniProtKB/Swiss-Prot Function:
Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.

Phenotypes From GWAS Catalog for LRRC8E Gene

Gene Ontology (GO) - Molecular Function for LRRC8E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 volume-sensitive anion channel activity TAS --
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with LRRC8E: view
genes like me logo Genes that share phenotypes with LRRC8E: view

Animal Model Products

CRISPR Products

miRNA for LRRC8E Gene

miRTarBase miRNAs that target LRRC8E

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRRC8E
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC8E Gene

Localization for LRRC8E Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC8E Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO:0000269 PubMed:24790029}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC8E gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LRRC8E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 24790029
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 26824658
genes like me logo Genes that share ontologies with LRRC8E: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRRC8E Gene

Pathways & Interactions for LRRC8E Gene

SuperPathways for LRRC8E Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007165 signal transduction IBA --
GO:0044070 regulation of anion transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with LRRC8E: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC8E Gene

Drugs & Compounds for LRRC8E Gene

No Compound Related Data Available

Transcripts for LRRC8E Gene

Unigene Clusters for LRRC8E Gene

Leucine rich repeat containing 8 family, member E:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRRC8E
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8E Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d
SP1: -
SP2: - -
SP3:
SP4: - - -

Relevant External Links for LRRC8E Gene

GeneLoc Exon Structure for
LRRC8E
ECgene alternative splicing isoforms for
LRRC8E

Expression for LRRC8E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRC8E Gene

mRNA differential expression in normal tissues according to GTEx for LRRC8E Gene

This gene is overexpressed in Minor Salivary Gland (x5.5), Adrenal Gland (x5.2), Skin - Sun Exposed (Lower leg) (x5.0), Esophagus - Mucosa (x4.4), and Skin - Not Sun Exposed (Suprapubic) (x4.2).

Protein differential expression in normal tissues from HIPED for LRRC8E Gene

This gene is overexpressed in Pancreas (29.6), Urine (26.5), and Heart (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRRC8E Gene



Protein tissue co-expression partners for LRRC8E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRRC8E Gene:

LRRC8E

SOURCE GeneReport for Unigene cluster for LRRC8E Gene:

Hs.501511

Evidence on tissue expression from TISSUES for LRRC8E Gene

  • Lung(4.2)
  • Kidney(4)
genes like me logo Genes that share expression patterns with LRRC8E: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC8E Gene

Orthologs for LRRC8E Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC8E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC8E 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia LRRC8E 33 34
  • 88.82 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC8E 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC8E 33 34
  • 86.73 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc8e 33
  • 84.03 (n)
mouse
(Mus musculus)
Mammalia Lrrc8e 33 16 34
  • 83.4 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC8E 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8e 33
  • 64.06 (n)
Str.6450 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7346 33
zebrafish
(Danio rerio)
Actinopterygii LRRC8E 34
  • 59 (a)
OneToOne
Species where no ortholog for LRRC8E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRRC8E Gene

ENSEMBL:
Gene Tree for LRRC8E (if available)
TreeFam:
Gene Tree for LRRC8E (if available)

Paralogs for LRRC8E Gene

Paralogs for LRRC8E Gene

(7) SIMAP similar genes for LRRC8E Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LRRC8E: view

Variants for LRRC8E Gene

Sequence variations from dbSNP and Humsavar for LRRC8E Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs796052173 Likely benign 7,900,299(+) CCTGC(A/G)GGCTG reference, missense
rs1000496015 -- 7,895,972(+) TCACT(C/G)TGTCA intron-variant
rs1000497819 -- 7,896,815(+) GTCTC(A/G)GACTC intron-variant
rs1000700426 -- 7,901,431(+) CACCT(A/G)GGGAG utr-variant-3-prime
rs1000749971 -- 7,892,044(+) ACAGG(C/T)ATGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC8E Gene

Variant ID Type Subtype PubMed ID
esv3643596 CNV loss 21293372
nsv828418 CNV gain 20364138
nsv828419 CNV gain 20364138
nsv833733 CNV gain 17160897
nsv953961 CNV deletion 24416366

Variation tolerance for LRRC8E Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC8E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC8E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC8E Gene

Disorders for LRRC8E Gene

Relevant External Links for LRRC8E

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRC8E

No disorders were found for LRRC8E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC8E Gene

Publications for LRRC8E Gene

  1. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. (PMID: 26824658) Syeda R … Patapoutian A (Cell 2016) 3 4 60
  2. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. (PMID: 24790029) Voss FK … Jentsch TJ (Science (New York, N.Y.) 2014) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60

Products for LRRC8E Gene

Sources for LRRC8E Gene

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