Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KCNC3 (potassium voltage-gated channel subfamily C member 3)

Identity

Alias_namesSCA13
spinocerebellar ataxia 13
potassium voltage-gated channel, Shaw-related subfamily, member 3
potassium channel, voltage gated Shaw related subfamily C, member 3
Alias_symbol (synonym)Kv3.3
Other aliasKSHIIID
KV3.3
HGNC (Hugo) KCNC3
LocusID (NCBI) 3748
Atlas_Id 64768
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50315508 and ends at 50329377 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCNC3 (19q13.33) / ASPDH (19q13.33)KCNC3 (19q13.33) / SMG1 (16p12.3)NLGN1 (3q26.31) / KCNC3 (19q13.33)

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)KCNC3   6235
LRG (Locus Reference Genomic)LRG_668
Cards
Entrez_Gene (NCBI)KCNC3  3748  potassium voltage-gated channel subfamily C member 3
AliasesKSHIIID; KV3.3; SCA13
GeneCards (Weizmann)KCNC3
Ensembl hg19 (Hinxton)ENSG00000131398 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131398 [Gene_View]  chr19:50315508-50329377 [Contig_View]  KCNC3 [Vega]
ICGC DataPortalENSG00000131398
TCGA cBioPortalKCNC3
AceView (NCBI)KCNC3
Genatlas (Paris)KCNC3
WikiGenes3748
SOURCE (Princeton)KCNC3
Genetics Home Reference (NIH)KCNC3
Genomic and cartography
GoldenPath hg38 (UCSC)KCNC3  -     chr19:50315508-50329377 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNC3  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblKCNC3 - 19q13.33 [CytoView hg19]  KCNC3 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIKCNC3 [Mapview hg19]  KCNC3 [Mapview hg38]
OMIM176264   605259   
Gene and transcription
Genbank (Entrez)AB208930 AF055989 AK127492 BC156302
RefSeq transcript (Entrez)NM_004977
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNC3
Cluster EST : UnigeneHs.467146 [ NCBI ]
CGAP (NCI)Hs.467146
Alternative Splicing GalleryENSG00000131398
Gene ExpressionKCNC3 [ NCBI-GEO ]   KCNC3 [ EBI - ARRAY_EXPRESS ]   KCNC3 [ SEEK ]   KCNC3 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3748
GTEX Portal (Tissue expression)KCNC3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14003   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14003  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14003
Splice isoforms : SwissVarQ14003
PhosPhoSitePlusQ14003
Domains : Interpro (EBI)BTB/POZ_dom    Channel_four-helix_dom    Ion_trans_dom    K_chnl_volt-dep_Kv    K_chnl_volt-dep_Kv3    K_chnl_volt-dep_Kv3.3    K_chnl_volt-dep_Kv3_ID    SKP1/BTB/POZ    T1-type_BTB    VG_K_chnl   
Domain families : Pfam (Sanger)BTB_2 (PF02214)    Ion_trans (PF00520)    Potassium_chann (PF11404)   
Domain families : Pfam (NCBI)pfam02214    pfam00520    pfam11404   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)KCNC3
DMDM Disease mutations3748
Blocks (Seattle)KCNC3
SuperfamilyQ14003
Human Protein AtlasENSG00000131398
Peptide AtlasQ14003
HPRD08886
IPIIPI00289965   IPI00444424   IPI00795336   IPI00985320   
Protein Interaction databases
DIP (DOE-UCLA)Q14003
IntAct (EBI)Q14003
FunCoupENSG00000131398
BioGRIDKCNC3
STRING (EMBL)KCNC3
ZODIACKCNC3
Ontologies - Pathways
QuickGOQ14003
Ontology : AmiGOvoltage-gated potassium channel activity  cytoskeleton  plasma membrane  plasma membrane  cell cortex  voltage-gated potassium channel complex  cell junction  axon  dendrite  dendritic spine membrane  regulation of ion transmembrane transport  presynaptic membrane  perikaryon  protein homooligomerization  protein tetramerization  potassium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated potassium channel activity  cytoskeleton  plasma membrane  plasma membrane  cell cortex  voltage-gated potassium channel complex  cell junction  axon  dendrite  dendritic spine membrane  regulation of ion transmembrane transport  presynaptic membrane  perikaryon  protein homooligomerization  protein tetramerization  potassium ion transmembrane transport  
NDEx NetworkKCNC3
Atlas of Cancer Signalling NetworkKCNC3
Wikipedia pathwaysKCNC3
Orthology - Evolution
OrthoDB3748
GeneTree (enSembl)ENSG00000131398
Phylogenetic Trees/Animal Genes : TreeFamKCNC3
HOVERGENQ14003
HOGENOMQ14003
Homologs : HomoloGeneKCNC3
Homology/Alignments : Family Browser (UCSC)KCNC3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNC3
dbVarKCNC3
ClinVarKCNC3
1000_GenomesKCNC3 
Exome Variant ServerKCNC3
ExAC (Exome Aggregation Consortium)KCNC3 (select the gene name)
Genetic variants : HAPMAP3748
Genomic Variants (DGV)KCNC3 [DGVbeta]
DECIPHERKCNC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNC3 
Mutations
ICGC Data PortalKCNC3 
TCGA Data PortalKCNC3 
Broad Tumor PortalKCNC3
OASIS PortalKCNC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNC3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KCNC3
DgiDB (Drug Gene Interaction Database)KCNC3
DoCM (Curated mutations)KCNC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNC3 (select a term)
intoGenKCNC3
Cancer3DKCNC3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176264    605259   
Orphanet13785   
MedgenKCNC3
Genetic Testing Registry KCNC3
NextProtQ14003 [Medical]
TSGene3748
GENETestsKCNC3
Target ValidationKCNC3
Huge Navigator KCNC3 [HugePedia]
snp3D : Map Gene to Disease3748
BioCentury BCIQKCNC3
ClinGenKCNC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3748
Chemical/Pharm GKB GenePA30027
Clinical trialKCNC3
Miscellaneous
canSAR (ICR)KCNC3 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNC3
EVEXKCNC3
GoPubMedKCNC3
iHOPKCNC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:18:09 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.