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LRRC8B (leucine rich repeat containing 8 family member B)

Identity

Alias_symbol (synonym)TA-LRRP
KIAA0231
Other aliasTALRRP
HGNC (Hugo) LRRC8B
LocusID (NCBI) 23507
Atlas_Id 68657
Location 1p22.2  [Link to chromosome band 1p22]
Location_base_pair Starts at 89524838 and ends at 89597861 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LRRC8B (1p22.2) / LRRC8C (1p22.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LRRC8B   30692
Cards
Entrez_Gene (NCBI)LRRC8B  23507  leucine rich repeat containing 8 family member B
AliasesTA-LRRP; TALRRP
GeneCards (Weizmann)LRRC8B
Ensembl hg19 (Hinxton)ENSG00000197147 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197147 [Gene_View]  chr1:89524838-89597861 [Contig_View]  LRRC8B [Vega]
ICGC DataPortalENSG00000197147
TCGA cBioPortalLRRC8B
AceView (NCBI)LRRC8B
Genatlas (Paris)LRRC8B
WikiGenes23507
SOURCE (Princeton)LRRC8B
Genetics Home Reference (NIH)LRRC8B
Genomic and cartography
GoldenPath hg38 (UCSC)LRRC8B  -     chr1:89524838-89597861 +  1p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRC8B  -     1p22.2   [Description]    (hg19-Feb_2009)
EnsemblLRRC8B - 1p22.2 [CytoView hg19]  LRRC8B - 1p22.2 [CytoView hg38]
Mapping of homologs : NCBILRRC8B [Mapview hg19]  LRRC8B [Mapview hg38]
OMIM612888   
Gene and transcription
Genbank (Entrez)AF385436 AW022123 AY358112 AY640232 BC030607
RefSeq transcript (Entrez)NM_001134476 NM_015350
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRRC8B
Cluster EST : UnigeneHs.741594 [ NCBI ]
CGAP (NCI)Hs.741594
Alternative Splicing GalleryENSG00000197147
Gene ExpressionLRRC8B [ NCBI-GEO ]   LRRC8B [ EBI - ARRAY_EXPRESS ]   LRRC8B [ SEEK ]   LRRC8B [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC8B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23507
GTEX Portal (Tissue expression)LRRC8B
Human Protein AtlasENSG00000197147-LRRC8B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P9F7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P9F7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P9F7
Splice isoforms : SwissVarQ6P9F7
PhosPhoSitePlusQ6P9F7
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp    LRR_5    LRRC8_Pannexin-like   
Domain families : Pfam (Sanger)LRR_5 (PF13306)    LRR_8 (PF13855)    Pannexin_like (PF12534)   
Domain families : Pfam (NCBI)pfam13306    pfam13855    pfam12534   
Domain families : Smart (EMBL)LRR_TYP (SM00369)  
Conserved Domain (NCBI)LRRC8B
DMDM Disease mutations23507
Blocks (Seattle)LRRC8B
SuperfamilyQ6P9F7
Human Protein Atlas [tissue]ENSG00000197147-LRRC8B [tissue]
Peptide AtlasQ6P9F7
HPRD18145
IPIIPI00166036   IPI00643826   
Protein Interaction databases
DIP (DOE-UCLA)Q6P9F7
IntAct (EBI)Q6P9F7
FunCoupENSG00000197147
BioGRIDLRRC8B
STRING (EMBL)LRRC8B
ZODIACLRRC8B
Ontologies - Pathways
QuickGOQ6P9F7
Ontology : AmiGOvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  signal transduction  ion channel complex  regulation of anion transport  anion transmembrane transport  
Ontology : EGO-EBIvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  signal transduction  ion channel complex  regulation of anion transport  anion transmembrane transport  
NDEx NetworkLRRC8B
Atlas of Cancer Signalling NetworkLRRC8B
Wikipedia pathwaysLRRC8B
Orthology - Evolution
OrthoDB23507
GeneTree (enSembl)ENSG00000197147
Phylogenetic Trees/Animal Genes : TreeFamLRRC8B
HOVERGENQ6P9F7
HOGENOMQ6P9F7
Homologs : HomoloGeneLRRC8B
Homology/Alignments : Family Browser (UCSC)LRRC8B
Gene fusions - Rearrangements
Tumor Fusion PortalLRRC8B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC8B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC8B
dbVarLRRC8B
ClinVarLRRC8B
1000_GenomesLRRC8B 
Exome Variant ServerLRRC8B
ExAC (Exome Aggregation Consortium)ENSG00000197147
GNOMAD BrowserENSG00000197147
Genetic variants : HAPMAP23507
Genomic Variants (DGV)LRRC8B [DGVbeta]
DECIPHERLRRC8B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRRC8B 
Mutations
ICGC Data PortalLRRC8B 
TCGA Data PortalLRRC8B 
Broad Tumor PortalLRRC8B
OASIS PortalLRRC8B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRC8B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRC8B
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRRC8B
DgiDB (Drug Gene Interaction Database)LRRC8B
DoCM (Curated mutations)LRRC8B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRC8B (select a term)
intoGenLRRC8B
Cancer3DLRRC8B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612888   
Orphanet
DisGeNETLRRC8B
MedgenLRRC8B
Genetic Testing Registry LRRC8B
NextProtQ6P9F7 [Medical]
TSGene23507
GENETestsLRRC8B
Target ValidationLRRC8B
Huge Navigator LRRC8B [HugePedia]
snp3D : Map Gene to Disease23507
BioCentury BCIQLRRC8B
ClinGenLRRC8B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23507
Chemical/Pharm GKB GenePA142671535
Clinical trialLRRC8B
Miscellaneous
canSAR (ICR)LRRC8B (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRC8B
EVEXLRRC8B
GoPubMedLRRC8B
iHOPLRRC8B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:01:19 CET 2017

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