Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCND3 (potassium voltage-gated channel subfamily D member 3)

Identity

Alias_namesSCA22
SCA19
spinocerebellar ataxia 22
spinocerebellar ataxia 19
potassium voltage-gated channel, Shal-related subfamily, member 3
Alias_symbol (synonym)Kv4.3
KSHIVB
Other aliasBRGDA9
KCND3L
KCND3S
KV4.3
HGNC (Hugo) KCND3
LocusID (NCBI) 3752
Atlas_Id 41047
Location 1p13.2  [Link to chromosome band 1p13]
Location_base_pair Starts at 111775832 and ends at 111989155 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCND3 (1p13.2) / PPM1E (17q22)

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)KCND3   6239
LRG (Locus Reference Genomic)LRG_445
Cards
Entrez_Gene (NCBI)KCND3  3752  potassium voltage-gated channel subfamily D member 3
AliasesBRGDA9; KCND3L; KCND3S; KSHIVB; 
KV4.3; SCA19; SCA22
GeneCards (Weizmann)KCND3
Ensembl hg19 (Hinxton)ENSG00000171385 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171385 [Gene_View]  chr1:111775832-111989155 [Contig_View]  KCND3 [Vega]
ICGC DataPortalENSG00000171385
TCGA cBioPortalKCND3
AceView (NCBI)KCND3
Genatlas (Paris)KCND3
WikiGenes3752
SOURCE (Princeton)KCND3
Genetics Home Reference (NIH)KCND3
Genomic and cartography
GoldenPath hg38 (UCSC)KCND3  -     chr1:111775832-111989155 -  1p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCND3  -     1p13.2   [Description]    (hg19-Feb_2009)
EnsemblKCND3 - 1p13.2 [CytoView hg19]  KCND3 - 1p13.2 [CytoView hg38]
Mapping of homologs : NCBIKCND3 [Mapview hg19]  KCND3 [Mapview hg38]
OMIM605411   607346   616399   
Gene and transcription
Genbank (Entrez)AF048712 AF048713 AF120491 AF187963 AF187964
RefSeq transcript (Entrez)NM_004980 NM_172198
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCND3
Cluster EST : UnigeneHs.730579 [ NCBI ]
CGAP (NCI)Hs.730579
Alternative Splicing GalleryENSG00000171385
Gene ExpressionKCND3 [ NCBI-GEO ]   KCND3 [ EBI - ARRAY_EXPRESS ]   KCND3 [ SEEK ]   KCND3 [ MEM ]
Gene Expression Viewer (FireBrowse)KCND3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3752
GTEX Portal (Tissue expression)KCND3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UK17   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UK17  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UK17
Splice isoforms : SwissVarQ9UK17
PhosPhoSitePlusQ9UK17
Domains : Interpro (EBI)BTB/POZ_dom    Channel_four-helix_dom    Ion_trans_dom    K_chnl_volt-dep_Kv    K_chnl_volt-dep_Kv4    K_chnl_volt-dep_Kv4.3    K_chnl_volt-dep_Kv4_C    Shal-type_N    SKP1/BTB/POZ    T1-type_BTB    VG_K_chnl   
Domain families : Pfam (Sanger)BTB_2 (PF02214)    DUF3399 (PF11879)    Ion_trans (PF00520)    Shal-type (PF11601)   
Domain families : Pfam (NCBI)pfam02214    pfam11879    pfam00520    pfam11601   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)KCND3
DMDM Disease mutations3752
Blocks (Seattle)KCND3
PDB (SRS)1S1G    2NZ0   
PDB (PDBSum)1S1G    2NZ0   
PDB (IMB)1S1G    2NZ0   
PDB (RSDB)1S1G    2NZ0   
Structural Biology KnowledgeBase1S1G    2NZ0   
SCOP (Structural Classification of Proteins)1S1G    2NZ0   
CATH (Classification of proteins structures)1S1G    2NZ0   
SuperfamilyQ9UK17
Human Protein AtlasENSG00000171385
Peptide AtlasQ9UK17
HPRD16104
IPIIPI00383327   IPI00383328   
Protein Interaction databases
DIP (DOE-UCLA)Q9UK17
IntAct (EBI)Q9UK17
FunCoupENSG00000171385
BioGRIDKCND3
STRING (EMBL)KCND3
ZODIACKCND3
Ontologies - Pathways
QuickGOQ9UK17
Ontology : AmiGOA-type (transient outward) potassium channel activity  protein binding  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  dendrite  regulation of ion transmembrane transport  sarcolemma  ion channel binding  metal ion binding  protein homooligomerization  cardiac conduction  potassium ion export  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  potassium ion export across plasma membrane  potassium ion export across plasma membrane  membrane repolarization during ventricular cardiac muscle cell action potential  ventricular cardiac muscle cell membrane repolarization  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Ontology : EGO-EBIA-type (transient outward) potassium channel activity  protein binding  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  dendrite  regulation of ion transmembrane transport  sarcolemma  ion channel binding  metal ion binding  protein homooligomerization  cardiac conduction  potassium ion export  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  potassium ion export across plasma membrane  potassium ion export across plasma membrane  membrane repolarization during ventricular cardiac muscle cell action potential  ventricular cardiac muscle cell membrane repolarization  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
NDEx NetworkKCND3
Atlas of Cancer Signalling NetworkKCND3
Wikipedia pathwaysKCND3
Orthology - Evolution
OrthoDB3752
GeneTree (enSembl)ENSG00000171385
Phylogenetic Trees/Animal Genes : TreeFamKCND3
HOVERGENQ9UK17
HOGENOMQ9UK17
Homologs : HomoloGeneKCND3
Homology/Alignments : Family Browser (UCSC)KCND3
Gene fusions - Rearrangements
Fusion : MitelmanKCND3/PPM1E [1p13.2/17q22]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCND3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCND3
dbVarKCND3
ClinVarKCND3
1000_GenomesKCND3 
Exome Variant ServerKCND3
ExAC (Exome Aggregation Consortium)KCND3 (select the gene name)
Genetic variants : HAPMAP3752
Genomic Variants (DGV)KCND3 [DGVbeta]
DECIPHERKCND3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCND3 
Mutations
ICGC Data PortalKCND3 
TCGA Data PortalKCND3 
Broad Tumor PortalKCND3
OASIS PortalKCND3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCND3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCND3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch KCND3
DgiDB (Drug Gene Interaction Database)KCND3
DoCM (Curated mutations)KCND3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCND3 (select a term)
intoGenKCND3
Cancer3DKCND3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605411    607346    616399   
Orphanet8022    13789   
MedgenKCND3
Genetic Testing Registry KCND3
NextProtQ9UK17 [Medical]
TSGene3752
GENETestsKCND3
Huge Navigator KCND3 [HugePedia]
snp3D : Map Gene to Disease3752
BioCentury BCIQKCND3
ClinGenKCND3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3752
Chemical/Pharm GKB GenePA210
Clinical trialKCND3
Miscellaneous
canSAR (ICR)KCND3 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCND3
EVEXKCND3
GoPubMedKCND3
iHOPKCND3
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 12:21:10 CEST 2017

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