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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LRRC8E Gene

protein-coding   GIFtS: 48
GCID: GC19P007953

Leucine Rich Repeat Containing 8 Family, Member E

  Search for LRRC8E
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine Rich Repeat Containing 8 Family, Member E1 2
Leucine-Rich Repeat-Containing Protein 8E2

External Ids:    HGNC: 262721   Entrez Gene: 801312   Ensembl: ENSG000001710177   OMIM: 6128915   UniProtKB: Q6NSJ53   

Export aliases for LRRC8E gene to outside databases

Previous GC identifers: GC19P007860 GC19P007623


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 LRCH2.

Gene Wiki entry for LRRC8E Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_077812.2  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRRC8E gene promoter:
         E2F-3a   c-Fos   GR   AP-1   E47   E2F   E2F-1   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRRC8E promoter sequence
   Search SABiosciences Chromatin IP Primers for LRRC8E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC8E


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

LRRC8E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRC8E gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007953:  view genomic region     (about GC identifiers)

Start:
7,953,390 bp from pter      End:
7,966,908 bp from pter
Size:
13,519 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LRC8E_HUMAN, Q6NSJ5 (See protein sequence)
Recommended Name: Leucine-rich repeat-containing protein 8E  
Size: 796 amino acids; 90247 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAB15648.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB15648.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Secondary accessions: B3KR78 Q2YDY3 Q7L236 Q8N3B0 Q9H5H8

Explore the universe of human proteins at neXtProt for LRRC8E: NX_Q6NSJ5

Explore proteomics data for LRRC8E at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NSJ5

  • LRRC8E Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRRC8E Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001255213.1  NP_001255214.1  NP_079337.2  

    ENSEMBL proteins: 
     ENSP00000306524   ENSP00000473127   ENSP00000470302   ENSP00000472642   ENSP00000472491  

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    Cloud-Clone Corp. Proteins for LRRC8E 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    LRRC8E for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR021040 LRR_protein-8_N

    Graphical View of Domain Structure for InterPro Entry Q6NSJ5

    ProtoNet protein and cluster: Q6NSJ5

    UniProtKB/Swiss-Prot: LRC8E_HUMAN, Q6NSJ5
    Similarity: Contains 11 LRR (leucine-rich) repeats


    LRRC8E for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    LRRC8E for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for LRRC8E:
     Decreased viability with pacli  Increased G2M DNA content 

    Animal Models:
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    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate LRRC8E (see all 16):
    hsa-miR-3934 hsa-miR-3194-5p hsa-miR-605 hsa-miR-589 hsa-miR-3909 hsa-miR-30b* hsa-miR-30c-2* hsa-miR-4306
    SwitchGear 3'UTR luciferase reporter plasmidLRRC8E 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LRRC8E

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for LRRC8E (Q6NSJ53 ENSP000003065244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM2Q9C0403I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LRRC8E (LRC8E)

    Search CenterWatch for drugs/clinical trials and news about LRRC8E / LRC8E

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LRRC8E gene (3 alternative transcripts): 
    NM_001268284.1  NM_001268285.1  NM_025061.4  

    Unigene Cluster for LRRC8E:

    Leucine rich repeat containing 8 family, member E
    Hs.501511  [show with all ESTs]
    Unigene Representative Sequence: NM_001268284
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306708(uc002mir.3) ENST00000600345 ENST00000598224 ENST00000593511
    ENST00000599367
    miRNA
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    hsa-miR-3934 hsa-miR-3194-5p hsa-miR-605 hsa-miR-589 hsa-miR-3909 hsa-miR-30b* hsa-miR-30c-2* hsa-miR-4306
    SwitchGear 3'UTR luciferase reporter plasmidLRRC8E 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRRC8E
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRRC8E

    Additional mRNA sequence: 

    AK027073.1 AK091134.1 AL834474.1 BC022216.1 BC070089.1 BC108252.1 BX538180.1 

    1 DOTS entry:

    DT.95095234 

    24/42 AceView cDNA sequences (see all 42):

    CA454821 BQ300539 BX117781 CF593782 BU844855 NM_025061 BF351382 BQ267960 
    BX390476 BX281149 BX281805 BQ267550 CB049177 AI094554 CF993947 BX365198 
    AK027073 BU615647 AA532807 AK091134 BQ378559 BX538180 CD109368 AA298611 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8E    About this scheme

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


    ECgene alternative splicing isoforms for LRRC8E

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LRRC8E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATAATCC
    LRRC8E Expression
    About this image


    See LRRC8E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRRC8E

    SOURCE GeneReport for Unigene cluster: Hs.501511
        SABiosciences Custom PCR Arrays for LRRC8E
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for LRRC8E gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrrc8e1 , 5 leucine rich repeat containing 8 family, member E1, 5 83.4(n)1
    90.44(a)1
      8 (1.99 cM)5
    722671  NM_028175.21  NP_082451.21 
     42268275 
    lizard
    (Anolis carolinensis)
    Reptilia LRRC8E6
    Uncharacterized protein
    65(a)
    1 ↔ 1
    2(119588508-119599044)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73462 Xenopus laevis transcribed sequence with weak similarity more 79.88(n)    CA791673.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LRRC8E6
    si:ch211-106h11.16
    si:ch211-106h11.1
    59(a)
    38(a)
    1 ↔ 1
    possible ortholog
    6(61793-66291)
    3(6165408-6181759)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRRC8E gene
    LRCH22  RSU12  LRRC182  LRSAM12  LRRC8A2  ENSG000002719492  PIDD2  LRCH32  
    LRRC8D2  LRRC572  LRRC282  LRRC8B2  LRRC8C2  LRCH42  LRCH12  
    7 SIMAP similar genes for LRRC8E using alignment to 5 protein entries:     LRC8E_HUMAN (see all proteins):
    LRRC8C    LRRC8D    LRRC8A    DKFZp666L2010    LRRC5    LRRC8B
    LRRC1

    LRRC8E for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/410 SNPs in LRRC8E are shown (see all 410)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1471079001,2
    --7951432(+) ATCACA/CCGAGT 3 -- us2k10--------
    rs1180704431,2
    F--7951476(+) GCCACC/TGCGCC 3 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1812377901,2
    --7951477(+) CCACCA/GCGCCC 3 -- us2k10--------
    rs1511248561,2
    --7951553(+) AGGAAA/CATTTC 3 -- us2k10--------
    rs4864971,2
    C,F,A,H--7951571(-) aaaacC/AaaacC 3 -- us2k118Minor allele frequency- A:0.22NS EA NA WA CSA 2342
    rs1134380591,2
    C,F--7951836(+) ATTACA/GGGTGT 3 -- us2k14Minor allele frequency- G:0.08NA CSA WA 242
    rs1860666131,2
    --7951887(+) CCTAGA/GTGGTC 3 -- us2k10--------
    rs1910185101,2
    --7951916(+) CAGGTC/GCGACA 3 -- us2k10--------
    rs5639591,2
    C,F,A,H--7951933(-) cctcgC/Gaagct 3 -- us2k112Minor allele frequency- G:0.33EA NA WA CSA 574
    rs1420819511,2
    C--7951993(+) AGGTT-/TTTTC 
            
    TTTCT
    3 -- us2k10--------

    HapMap Linkage Disequilibrium report for LRRC8E (7953390 - 7966908 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for LRRC8E:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv910986CNV Loss21882294
    nsv910984CNV Loss21882294
    dgv3716n71CNV Loss21882294
    nsv910989CNV Loss21882294
    dgv3715n71CNV Loss21882294
    nsv828418CNV Gain20364138
    nsv833733CNV Gain17160897
    nsv828419CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    LRRC8E for disorders           About MalaCards
    OMIM gene information: 612891    OMIM disorders: --


    LRRC8E for disorders           About GeneDecksing


    Export disorders for LRRC8E gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LRRC8E gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with LRRC8E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. (PubMed id 15094057)1 Kubota K....Hara J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80131 HGNC: 26272 AceView: FLJ23420 Ensembl:ENSG00000171017 euGenes: HUgn80131
    ECgene: LRRC8E H-InvDB: LRRC8E

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LRRC8E Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LRRC8E gene:
    Search GeneIP for patents involving LRRC8E

    GeneCards and IP:
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