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LRRC8A (leucine rich repeat containing 8 family member A)

Identity

Alias_namesLRRC8
leucine rich repeat containing 8
Alias_symbol (synonym)KIAA1437
FLJ10337
SWELL1
Other aliasAGM5
HGNC (Hugo) LRRC8A
LocusID (NCBI) 56262
Atlas_Id 68656
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 128882502 and ends at 128918038 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRRC8A (9q34.11) / C17orf80 (17q25.1)LRRC8A (9q34.11) / CCBL1 (9q34.11)LRRC8A (9q34.11) / GON4L (1q22)
LRRC8A (9q34.11) / LRRC8A (9q34.11)LRRC8A (9q34.11) / PDIA4 (7q36.1)NFATC2IP (16p11.2) / LRRC8A (9q34.11)
PHYHD1 (9q34.11) / LRRC8A (9q34.11)LRRC8A CCBL1LRRC8A GON4L

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)LRRC8A   19027
LRG (Locus Reference Genomic)LRG_80
Cards
Entrez_Gene (NCBI)LRRC8A  56262  leucine rich repeat containing 8 family member A
AliasesAGM5; LRRC8; SWELL1
GeneCards (Weizmann)LRRC8A
Ensembl hg19 (Hinxton)ENSG00000136802 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136802 [Gene_View]  chr9:128882502-128918038 [Contig_View]  LRRC8A [Vega]
ICGC DataPortalENSG00000136802
TCGA cBioPortalLRRC8A
AceView (NCBI)LRRC8A
Genatlas (Paris)LRRC8A
WikiGenes56262
SOURCE (Princeton)LRRC8A
Genetics Home Reference (NIH)LRRC8A
Genomic and cartography
GoldenPath hg38 (UCSC)LRRC8A  -     chr9:128882502-128918038 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRC8A  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblLRRC8A - 9q34.11 [CytoView hg19]  LRRC8A - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBILRRC8A [Mapview hg19]  LRRC8A [Mapview hg38]
OMIM608360   613506   
Gene and transcription
Genbank (Entrez)AB037858 AK001199 AK024649 AK027495 AK074723
RefSeq transcript (Entrez)NM_001127244 NM_001127245 NM_019594
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRRC8A
Cluster EST : UnigeneHs.643600 [ NCBI ]
CGAP (NCI)Hs.643600
Alternative Splicing GalleryENSG00000136802
Gene ExpressionLRRC8A [ NCBI-GEO ]   LRRC8A [ EBI - ARRAY_EXPRESS ]   LRRC8A [ SEEK ]   LRRC8A [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC8A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56262
GTEX Portal (Tissue expression)LRRC8A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWT6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWT6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWT6
Splice isoforms : SwissVarQ8IWT6
PhosPhoSitePlusQ8IWT6
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp    LRRC8_Pannexin-like   
Domain families : Pfam (Sanger)LRR_8 (PF13855)    Pannexin_like (PF12534)   
Domain families : Pfam (NCBI)pfam13855    pfam12534   
Domain families : Smart (EMBL)LRR_TYP (SM00369)  
Conserved Domain (NCBI)LRRC8A
DMDM Disease mutations56262
Blocks (Seattle)LRRC8A
SuperfamilyQ8IWT6
Human Protein AtlasENSG00000136802
Peptide AtlasQ8IWT6
IPIIPI00002070   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWT6
IntAct (EBI)Q8IWT6
FunCoupENSG00000136802
BioGRIDLRRC8A
STRING (EMBL)LRRC8A
ZODIACLRRC8A
Ontologies - Pathways
QuickGOQ8IWT6
Ontology : AmiGOpre-B cell differentiation  volume-sensitive anion channel activity  anion channel activity  protein binding  cytoplasm  plasma membrane  anion transport  cell volume homeostasis  response to osmotic stress  signal transduction  cell surface  membrane  ion channel complex  regulation of anion transport  anion transmembrane transport  
Ontology : EGO-EBIpre-B cell differentiation  volume-sensitive anion channel activity  anion channel activity  protein binding  cytoplasm  plasma membrane  anion transport  cell volume homeostasis  response to osmotic stress  signal transduction  cell surface  membrane  ion channel complex  regulation of anion transport  anion transmembrane transport  
NDEx NetworkLRRC8A
Atlas of Cancer Signalling NetworkLRRC8A
Wikipedia pathwaysLRRC8A
Orthology - Evolution
OrthoDB56262
GeneTree (enSembl)ENSG00000136802
Phylogenetic Trees/Animal Genes : TreeFamLRRC8A
HOVERGENQ8IWT6
HOGENOMQ8IWT6
Homologs : HomoloGeneLRRC8A
Homology/Alignments : Family Browser (UCSC)LRRC8A
Gene fusions - Rearrangements
Fusion: TCGALRRC8A CCBL1
Fusion: TCGALRRC8A GON4L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC8A
dbVarLRRC8A
ClinVarLRRC8A
1000_GenomesLRRC8A 
Exome Variant ServerLRRC8A
ExAC (Exome Aggregation Consortium)LRRC8A (select the gene name)
Genetic variants : HAPMAP56262
Genomic Variants (DGV)LRRC8A [DGVbeta]
DECIPHERLRRC8A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRRC8A 
Mutations
ICGC Data PortalLRRC8A 
TCGA Data PortalLRRC8A 
Broad Tumor PortalLRRC8A
OASIS PortalLRRC8A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRC8A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRC8A
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch LRRC8A
DgiDB (Drug Gene Interaction Database)LRRC8A
DoCM (Curated mutations)LRRC8A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRC8A (select a term)
intoGenLRRC8A
Cancer3DLRRC8A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608360    613506   
Orphanet10310   
MedgenLRRC8A
Genetic Testing Registry LRRC8A
NextProtQ8IWT6 [Medical]
TSGene56262
GENETestsLRRC8A
Huge Navigator LRRC8A [HugePedia]
snp3D : Map Gene to Disease56262
BioCentury BCIQLRRC8A
ClinGenLRRC8A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56262
Chemical/Pharm GKB GenePA134909315
Clinical trialLRRC8A
Miscellaneous
canSAR (ICR)LRRC8A (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRC8A
EVEXLRRC8A
GoPubMedLRRC8A
iHOPLRRC8A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:37:23 CEST 2017

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