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LRRC8C (leucine rich repeat containing 8 family member C)

Identity

Alias_symbol (synonym)AD158
Other aliasFAD158
HGNC (Hugo) LRRC8C
LocusID (NCBI) 84230
Atlas_Id 68658
Location 1p22.2  [Link to chromosome band 1p22]
Location_base_pair Starts at 89633085 and ends at 89719535 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRRC8B (1p22.2) / LRRC8C (1p22.2)LRRC8C (1p22.2) / GHR (5p13.1)

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)LRRC8C   25075
Cards
Entrez_Gene (NCBI)LRRC8C  84230  leucine rich repeat containing 8 family member C
AliasesAD158; FAD158
GeneCards (Weizmann)LRRC8C
Ensembl hg19 (Hinxton)ENSG00000171488 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171488 [Gene_View]  chr1:89633085-89719535 [Contig_View]  LRRC8C [Vega]
ICGC DataPortalENSG00000171488
TCGA cBioPortalLRRC8C
AceView (NCBI)LRRC8C
Genatlas (Paris)LRRC8C
WikiGenes84230
SOURCE (Princeton)LRRC8C
Genetics Home Reference (NIH)LRRC8C
Genomic and cartography
GoldenPath hg38 (UCSC)LRRC8C  -     chr1:89633085-89719535 +  1p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRC8C  -     1p22.2   [Description]    (hg19-Feb_2009)
EnsemblLRRC8C - 1p22.2 [CytoView hg19]  LRRC8C - 1p22.2 [CytoView hg38]
Mapping of homologs : NCBILRRC8C [Mapview hg19]  LRRC8C [Mapview hg38]
OMIM612889   
Gene and transcription
Genbank (Entrez)AB081509 AI014679 AK094804 AK127881 AL136919
RefSeq transcript (Entrez)NM_032270
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRRC8C
Cluster EST : UnigeneHs.412836 [ NCBI ]
CGAP (NCI)Hs.412836
Alternative Splicing GalleryENSG00000171488
Gene ExpressionLRRC8C [ NCBI-GEO ]   LRRC8C [ EBI - ARRAY_EXPRESS ]   LRRC8C [ SEEK ]   LRRC8C [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC8C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84230
GTEX Portal (Tissue expression)LRRC8C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDW0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDW0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDW0
Splice isoforms : SwissVarQ8TDW0
PhosPhoSitePlusQ8TDW0
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)LRRC8C
DMDM Disease mutations84230
Blocks (Seattle)LRRC8C
SuperfamilyQ8TDW0
Human Protein AtlasENSG00000171488
Peptide AtlasQ8TDW0
HPRD13284
IPIIPI00152642   IPI00879867   IPI00844238   IPI00981577   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDW0
IntAct (EBI)Q8TDW0
FunCoupENSG00000171488
BioGRIDLRRC8C
STRING (EMBL)LRRC8C
ZODIACLRRC8C
Ontologies - Pathways
QuickGOQ8TDW0
Ontology : AmiGOvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  signal transduction  membrane  ion channel complex  regulation of anion transport  fat cell differentiation  anion transmembrane transport  
Ontology : EGO-EBIvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  signal transduction  membrane  ion channel complex  regulation of anion transport  fat cell differentiation  anion transmembrane transport  
NDEx NetworkLRRC8C
Atlas of Cancer Signalling NetworkLRRC8C
Wikipedia pathwaysLRRC8C
Orthology - Evolution
OrthoDB84230
GeneTree (enSembl)ENSG00000171488
Phylogenetic Trees/Animal Genes : TreeFamLRRC8C
HOVERGENQ8TDW0
HOGENOMQ8TDW0
Homologs : HomoloGeneLRRC8C
Homology/Alignments : Family Browser (UCSC)LRRC8C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC8C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC8C
dbVarLRRC8C
ClinVarLRRC8C
1000_GenomesLRRC8C 
Exome Variant ServerLRRC8C
ExAC (Exome Aggregation Consortium)LRRC8C (select the gene name)
Genetic variants : HAPMAP84230
Genomic Variants (DGV)LRRC8C [DGVbeta]
DECIPHERLRRC8C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRRC8C 
Mutations
ICGC Data PortalLRRC8C 
TCGA Data PortalLRRC8C 
Broad Tumor PortalLRRC8C
OASIS PortalLRRC8C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRC8C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRC8C
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRRC8C
DgiDB (Drug Gene Interaction Database)LRRC8C
DoCM (Curated mutations)LRRC8C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRC8C (select a term)
intoGenLRRC8C
Cancer3DLRRC8C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612889   
Orphanet
MedgenLRRC8C
Genetic Testing Registry LRRC8C
NextProtQ8TDW0 [Medical]
TSGene84230
GENETestsLRRC8C
Target ValidationLRRC8C
Huge Navigator LRRC8C [HugePedia]
snp3D : Map Gene to Disease84230
BioCentury BCIQLRRC8C
ClinGenLRRC8C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84230
Chemical/Pharm GKB GenePA142671536
Clinical trialLRRC8C
Miscellaneous
canSAR (ICR)LRRC8C (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRC8C
EVEXLRRC8C
GoPubMedLRRC8C
iHOPLRRC8C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:26:36 CEST 2017

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