LRRC8E Gene
protein-coding GIFtS: 46
GCID: GC19P007953
|
|
leucine rich repeat containing 8 family, member E
| |
Aliases
for LRRC8E gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Leucine Rich Repeat Containing 8 Family, Member E1 2 | | FLJ234201 | | Leucine-Rich Repeat-Containing Protein 8E2 |
Export aliases for LRRC8E gene to outside databasesPrevious GC identifers: GC19P007860 GC19P007623 |
Summaries
for LRRC8E gene(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:
This gene encodes a member of a small, conserved family of proteins with similar structure, including a string ofextracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternativelyspliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Jun2012)
Gene Wiki entry for LRRC8E
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_077812.2
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
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: 19p13.2LRRC8E Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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plus strand |
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Proteins
for LRRC8E gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9H5H8Explore the universe of human proteins at neXtProt for LRRC8E: NX_Q6NSJ5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6NSJ5
LRRC8E Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001255213.1 NP_001255214.1 NP_079337.2
ENSEMBL proteins: ENSP00000306524
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
LRRC8E for ontologies About GeneDecksing
LRRC8E Antibody Products:
Assay Products for LRRC8E: |
Protein
Domains /
Families
for LRRC8E gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LRRC8E for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6NSJ5ProtoNet protein and cluster: Q6NSJ5 UniProtKB/Swiss-Prot: LRC8E_HUMAN, Q6NSJ5Similarity: Contains 11 LRR (leucine-rich) repeats |
Function
for LRRC8E gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8E (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8E
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8E |
2 GenomeRNAi human phenotypes for LRRC8E:
|
Pathways & Interactions
for LRRC8E gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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 I2DAbout this table
|
Drugs & Compounds
for LRRC8E gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for LRRC8E
Search CenterWatch for drugs/clinical trials and news about LRRC8E / LRC8E
|
Transcripts
for LRRC8E gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
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_0012682841 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000306708(uc002mir.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8E (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8E
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: LRRC8E (NM_025061) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA 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 BQ267960 BX390476 NM_025061 BU844855 CF593782 BX281149 BX281805 BF351382 BQ300539 BX117781 AK027073 BC022216 BX538180 AA532807 CB049177 BU615647 CD109368 BX386287 BE877638 AK091134 AX746798 BX398510 BU631047
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
|
Expression
for LRRC8E gene
(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
CGAP TAG: ACTATAATCC
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
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LRRC8E
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8E |
Orthologs
for LRRC8E gene
(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 3/11 species (see all 11) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
LRRC8E6 |
-- |
65(a) |
1 ↔ 1 |
2(119595222-119598363) |
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 |
si:zfos-323e3.46si:ch211-106h11.16 |
si:ch211-106h11.1 |
59(a)37(a) |
1 ↔ 1possible ortholog |
6(61793-66291) 3(6165408-6181759) |
ENSEMBL Gene Tree for LRRC8E (if available)
TreeFam Gene Tree for LRRC8E (if available) |
Paralogs
for LRRC8E gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for LRRC8E gene
- LRRC282 LRRC8B2 LRRC8A2 LRRC8C2 LRRC8D2 LRRC692
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
|
Genomic Variants
for LRRC8E gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for LRRC8E (7953390 - 7966908 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LRRC8E: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRRC8E |
|
Disorders
/ Diseases
for LRRC8E gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 LRRC8E for disorders About MalaCards
LRRC8E for disorders About GeneDecksing
OMIM gene information: 612891
OMIM disorders: --
Export disorders for LRRC8E gene to outside databases
|
Publications
for LRRC8E gene (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 13):
(articles sorted by number of sources associating them with LRRC8E) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- 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)
- 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)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
|
External Searches for LRRC8E gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing LRRC8E gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing LRRC8E gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LRRC8E gene(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
|
| Name | Description |
| PharmGKB entry for LRRC8E | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for LRRC8E gene:
Search GeneIP for patents involving LRRC8E
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for LRRC8E gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8E |
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