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LRRC8A (leucine rich repeat containing 8 VRAC subunit A)

Identity

Alias (NCBI)AGM5
HsLRRC8A
LRRC8
SWELL1
HGNC (Hugo) LRRC8A
HGNC Alias symbKIAA1437
FLJ10337
SWELL1
HGNC Previous nameLRRC8
HGNC Previous nameleucine rich repeat containing 8
 leucine rich repeat containing 8 family member A
LocusID (NCBI) 56262
Atlas_Id 56915
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 128882112 and ends at 128918038 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)
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)

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    leucine rich repeat containing 8 VRAC subunit A
AliasesAGM5; HsLRRC8A; LRRC8; SWELL1
GeneCards (Weizmann)LRRC8A
Ensembl hg19 (Hinxton)ENSG00000136802 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136802 [Gene_View]  ENSG00000136802 [Sequence]  chr9:128882112-128918038 [Contig_View]  LRRC8A [Vega]
ICGC DataPortalENSG00000136802
TCGA cBioPortalLRRC8A
AceView (NCBI)LRRC8A
Genatlas (Paris)LRRC8A
SOURCE (Princeton)LRRC8A
Genetics Home Reference (NIH)LRRC8A
Genomic and cartography
GoldenPath hg38 (UCSC)LRRC8A  -     chr9:128882112-128918038 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRC8A  -     9q34.11   [Description]    (hg19-Feb_2009)
GoldenPathLRRC8A - 9q34.11 [CytoView hg19]  LRRC8A - 9q34.11 [CytoView hg38]
ImmunoBaseENSG00000136802
Genome Data Viewer NCBILRRC8A [Mapview hg19]  
OMIM608360   613506   
Gene and transcription
Genbank (Entrez)AB037858 AK001199 AK024649 AK027495 AK074723
RefSeq transcript (Entrez)NM_001127244 NM_001127245 NM_019594
Consensus coding sequences : CCDS (NCBI)LRRC8A
Gene ExpressionLRRC8A [ NCBI-GEO ]   LRRC8A [ EBI - ARRAY_EXPRESS ]   LRRC8A [ SEEK ]   LRRC8A [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC8A [ Firebrowse - Broad ]
GenevisibleExpression of LRRC8A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56262
GTEX Portal (Tissue expression)LRRC8A
Human Protein AtlasENSG00000136802-LRRC8A [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8IWT6
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)Leu-rich_rpt    Leu-rich_rpt_typical-subtyp    LRR_dom_sf    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
PDB (RSDB)5ZSU    6DJB   
PDB Europe5ZSU    6DJB   
PDB (PDBSum)5ZSU    6DJB   
PDB (IMB)5ZSU    6DJB   
Structural Biology KnowledgeBase5ZSU    6DJB   
SCOP (Structural Classification of Proteins)5ZSU    6DJB   
CATH (Classification of proteins structures)5ZSU    6DJB   
SuperfamilyQ8IWT6
AlphaFold pdb e-kbQ8IWT6   
Human Protein Atlas [tissue]ENSG00000136802-LRRC8A [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8IWT6
IntAct (EBI)Q8IWT6
BioGRIDLRRC8A
STRING (EMBL)LRRC8A
ZODIACLRRC8A
Ontologies - Pathways
QuickGOQ8IWT6
Ontology : AmiGOcellular glucose homeostasis  pre-B cell differentiation  volume-sensitive anion channel activity  volume-sensitive anion channel activity  volume-sensitive anion channel activity  anion channel activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  anion transport  cell volume homeostasis  cell volume homeostasis  response to osmotic stress  spermatogenesis  cell surface  taurine transport  aspartate transmembrane transport  membrane  integral component of membrane  positive regulation of insulin secretion  protein hexamerization  protein hexamerization  ion channel complex  identical protein binding  positive regulation of myoblast differentiation  transmembrane transport  anion transmembrane transport  anion transmembrane transport  anion transmembrane transport  cyclic-GMP-AMP transmembrane transporter activity  cyclic-GMP-AMP transmembrane import across plasma membrane  chloride transmembrane transport  integral component of lysosomal membrane  
Ontology : EGO-EBIcellular glucose homeostasis  pre-B cell differentiation  volume-sensitive anion channel activity  volume-sensitive anion channel activity  volume-sensitive anion channel activity  anion channel activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  anion transport  cell volume homeostasis  cell volume homeostasis  response to osmotic stress  spermatogenesis  cell surface  taurine transport  aspartate transmembrane transport  membrane  integral component of membrane  positive regulation of insulin secretion  protein hexamerization  protein hexamerization  ion channel complex  identical protein binding  positive regulation of myoblast differentiation  transmembrane transport  anion transmembrane transport  anion transmembrane transport  anion transmembrane transport  cyclic-GMP-AMP transmembrane transporter activity  cyclic-GMP-AMP transmembrane import across plasma membrane  chloride transmembrane transport  integral component of lysosomal membrane  
NDEx NetworkLRRC8A
Atlas of Cancer Signalling NetworkLRRC8A
Wikipedia pathwaysLRRC8A
Orthology - Evolution
OrthoDB56262
GeneTree (enSembl)ENSG00000136802
Phylogenetic Trees/Animal Genes : TreeFamLRRC8A
Homologs : HomoloGeneLRRC8A
Homology/Alignments : Family Browser (UCSC)LRRC8A
Gene fusions - Rearrangements
Fusion : QuiverLRRC8A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC8A
dbVarLRRC8A
ClinVarLRRC8A
MonarchLRRC8A
1000_GenomesLRRC8A 
Exome Variant ServerLRRC8A
GNOMAD BrowserENSG00000136802
Varsome BrowserLRRC8A
ACMGLRRC8A variants
VarityQ8IWT6
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]  
Somatic Mutations in Cancer : COSMIC3DLRRC8A
Mutations and Diseases : HGMDLRRC8A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLRRC8A
DgiDB (Drug Gene Interaction Database)LRRC8A
DoCM (Curated mutations)LRRC8A
CIViC (Clinical Interpretations of Variants in Cancer)LRRC8A
Cancer3DLRRC8A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608360    613506   
Orphanet
DisGeNETLRRC8A
MedgenLRRC8A
Genetic Testing Registry LRRC8A
NextProtQ8IWT6 [Medical]
GENETestsLRRC8A
Target ValidationLRRC8A
Huge Navigator LRRC8A [HugePedia]
ClinGenLRRC8A
Clinical trials, drugs, therapy
MyCancerGenomeLRRC8A
Protein Interactions : CTDLRRC8A
Pharm GKB GenePA134909315
PharosQ8IWT6
Clinical trialLRRC8A
Miscellaneous
canSAR (ICR)LRRC8A
HarmonizomeLRRC8A
DataMed IndexLRRC8A
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLRRC8A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:17:09 CEST 2021

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