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Aliases for LRRC8E Gene

Aliases for LRRC8E Gene

  • Leucine Rich Repeat Containing 8 Family, Member E 2 3
  • Leucine-Rich Repeat-Containing Protein 8E 4

External Ids for LRRC8E Gene

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 Family, Member E) is a Protein Coding gene. An important paralog of this gene is MFHAS1.

UniProtKB/Swiss-Prot for LRRC8E Gene

  • 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. It is unclear whether LRRC8E constitutes a pore-forming subunit or whether it is closely associated with the pore (By similarity).

Gene Wiki entry for LRRC8E Gene

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

Genomics for LRRC8E Gene

Genomic Location for LRRC8E Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRC8E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8E Gene

Regulatory Elements 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, LRRC8B, LRRC8C and/or LRRC8D), possibly to form a heterohexamer
    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

Proteomics data for LRRC8E Gene at MOPED

Post-translational modifications for LRRC8E Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn63 and Asn302

Other Protein References for LRRC8E Gene

No data available for DME Specific Peptides for LRRC8E Gene

Domains for LRRC8E Gene

Protein Domains for LRRC8E Gene

UniProtKB/Swiss-Prot:

LRC8E_HUMAN
Family:
  • Belongs to the LRRC8 family.:
    • Q6NSJ5
Similarity:
  • Contains 11 LRR (leucine-rich) repeats.:
    • Q6NSJ5
genes like me logo Genes that share domains with LRRC8E: view

No data available for Gene Families for LRRC8E Gene

Function for LRRC8E Gene

Molecular function for LRRC8E Gene

UniProtKB/Swiss-Prot Function: 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. It is unclear whether LRRC8E constitutes a pore-forming subunit or whether it is closely associated with the pore (By similarity).

Gene Ontology (GO) - Molecular Function for LRRC8E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8E: view

Phenotypes for LRRC8E Gene

GenomeRNAi human phenotypes for LRRC8E:
genes like me logo Genes that share phenotypes with LRRC8E: view

miRNA for LRRC8E Gene

miRTarBase miRNAs that target LRRC8E

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRC8E Gene COMPARTMENTS Subcellular localization image for LRRC8E gene
Compartment Confidence
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRRC8E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRRC8E: view

Pathways 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:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with LRRC8E: view

No data available for Pathways by source for LRRC8E Gene

Transcripts for LRRC8E Gene

Unigene Clusters for LRRC8E Gene

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

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 for LRRC8E Gene

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

This gene is overexpressed in Minor Salivary Gland (5.5), Adrenal Gland (5.2), Skin - Sun Exposed (Lower leg) (5.0), Esophagus - Mucosa (4.4), and Skin - Not Sun Exposed (Suprapubic) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRRC8E Gene

SOURCE GeneReport for Unigene cluster for LRRC8E Gene Hs.501511

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

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 36
  • 99.37 (n)
  • 99.5 (a)
LRRC8E 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC8E 36
  • 86.73 (n)
  • 92.59 (a)
LRRC8E 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC8E 36
  • 88.82 (n)
  • 92.81 (a)
LRRC8E 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc8e 36
  • 83.4 (n)
  • 90.44 (a)
Lrrc8e 16
Lrrc8e 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRC8E 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8e 36
  • 84.03 (n)
  • 91.07 (a)
lizard
(Anolis carolinensis)
Reptilia LRRC8E 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7346 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8e 36
  • 64.06 (n)
  • 67.05 (a)
Str.6450 36
zebrafish
(Danio rerio)
Actinopterygii LRRC8E 37
  • 59 (a)
OneToOne
Species with no ortholog for LRRC8E:
  • 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

Selected 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 MAF
rs480285 -- 7,895,201(+) GTCTG(C/G)AGTCA intron-variant
rs483808 -- 7,892,596(-) CTCAC(A/G)TCCTG intron-variant, upstream-variant-2KB
rs486497 -- 7,886,686(-) aaaac(A/C)aaacC upstream-variant-2KB
rs496702 -- 7,897,799(-) tggta(A/G)taggg intron-variant
rs507264 -- 7,895,202(-) CTGAC(C/T)GCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3715n71 CNV Loss 21882294
nsv833733 CNV Gain 17160897
nsv910984 CNV Loss 21882294
nsv910986 CNV Loss 21882294
dgv3716n71 CNV Loss 21882294
nsv910989 CNV Loss 21882294
nsv828418 CNV Gain 20364138
nsv828419 CNV Gain 20364138

Relevant External Links for LRRC8E Gene

HapMap Linkage Disequilibrium report
LRRC8E

Disorders for LRRC8E Gene

No disorders were found for LRRC8E Gene.

No data available for UniProtKB/Swiss-Prot for LRRC8E Gene

Publications for LRRC8E Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. (PMID: 24790029) Voss F.K. … Jentsch T.J. (Science 2014) 3 4
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 4

Products for LRRC8E Gene

Sources for LRRC8E Gene

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