Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNA5 (potassium voltage-gated channel subfamily A member 5)

Identity

Alias (NCBI)ATFB7
HCK1
HK2
HPCN1
KV1.5
PCN1
HGNC (Hugo) KCNA5
HGNC Alias symbKv1.5
HK2
HPCN1
HGNC Previous namepotassium voltage-gated channel, shaker-related subfamily, member 5
LocusID (NCBI) 3741
Atlas_Id 49727
Location 12p13.32  [Link to chromosome band 12p13]
Location_base_pair Starts at 5043879 and ends at 5046788 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)

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)KCNA5   6224
Cards
Entrez_Gene (NCBI)KCNA5  3741  potassium voltage-gated channel subfamily A member 5
AliasesATFB7; HCK1; HK2; HPCN1; 
KV1.5; PCN1
GeneCards (Weizmann)KCNA5
Ensembl hg19 (Hinxton)ENSG00000130037 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130037 [Gene_View]  ENSG00000130037 [Sequence]  chr12:5043879-5046788 [Contig_View]  KCNA5 [Vega]
ICGC DataPortalENSG00000130037
TCGA cBioPortalKCNA5
AceView (NCBI)KCNA5
Genatlas (Paris)KCNA5
WikiGenes3741
SOURCE (Princeton)KCNA5
Genetics Home Reference (NIH)KCNA5
Genomic and cartography
GoldenPath hg38 (UCSC)KCNA5  -     chr12:5043879-5046788 +  12p13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNA5  -     12p13.32   [Description]    (hg19-Feb_2009)
GoldenPathKCNA5 - 12p13.32 [CytoView hg19]  KCNA5 - 12p13.32 [CytoView hg38]
ImmunoBaseENSG00000130037
genome Data Viewer NCBIKCNA5 [Mapview hg19]  
OMIM176267   612240   
Gene and transcription
Genbank (Entrez)BC096357 BC096358 BC099665 BC099666 BM663787
RefSeq transcript (Entrez)NM_002234
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNA5
Alternative Splicing GalleryENSG00000130037
Gene ExpressionKCNA5 [ NCBI-GEO ]   KCNA5 [ EBI - ARRAY_EXPRESS ]   KCNA5 [ SEEK ]   KCNA5 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNA5 [ Firebrowse - Broad ]
GenevisibleExpression of KCNA5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3741
GTEX Portal (Tissue expression)KCNA5
Human Protein AtlasENSG00000130037-KCNA5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22460   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22460  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22460
Splice isoforms : SwissVarP22460
PhosPhoSitePlusP22460
Domains : Interpro (EBI)BTB/POZ_dom    Ion_trans_dom    K_chnl_volt-dep_Kv    K_chnl_volt-dep_Kv1    K_chnl_volt-dep_Kv1.5    SKP1/BTB/POZ_sf    T1-type_BTB    VG_K_chnl    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)BTB_2 (PF02214)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam02214    pfam00520   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)KCNA5
DMDM Disease mutations3741
Blocks (Seattle)KCNA5
SuperfamilyP22460
Human Protein Atlas [tissue]ENSG00000130037-KCNA5 [tissue]
Peptide AtlasP22460
HPRD08888
IPIIPI00304594   IPI00929686   
Protein Interaction databases
DIP (DOE-UCLA)P22460
IntAct (EBI)P22460
FunCoupENSG00000130037
BioGRIDKCNA5
STRING (EMBL)KCNA5
ZODIACKCNA5
Ontologies - Pathways
QuickGOP22460
Ontology : AmiGOresponse to hypoxia  signaling receptor binding  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  potassium ion transport  Notch signaling pathway  voltage-gated potassium channel complex  voltage-gated potassium channel complex  response to mechanical stimulus  cell surface  response to organic substance  intercalated disc  outward rectifier potassium channel activity  outward rectifier potassium channel activity  integral component of membrane  regulation of vasoconstriction  protein kinase binding  Z disc  potassium channel complex  regulation of membrane potential  response to hydrogen peroxide  regulation of potassium ion transport  membrane raft  intracellular canaliculus  perinuclear region of cytoplasm  regulation of insulin secretion  protein homooligomerization  alpha-actinin binding  negative regulation of cytosolic calcium ion concentration  potassium ion homeostasis  response to hyperoxia  membrane hyperpolarization  regulation of atrial cardiac muscle cell membrane repolarization  potassium ion transmembrane transport  potassium ion transmembrane transport  atrial cardiac muscle cell action potential  membrane repolarization during bundle of His cell action potential  membrane repolarization during SA node cell action potential  membrane repolarization during SA node cell action potential  voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization  voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization  voltage-gated potassium channel activity involved in SA node cell action potential repolarization  regulation of heart rate by cardiac conduction  scaffold protein binding  potassium ion export across plasma membrane  potassium ion export across plasma membrane  membrane repolarization during atrial cardiac muscle cell action potential  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of myoblast proliferation  
Ontology : EGO-EBIresponse to hypoxia  signaling receptor binding  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  potassium ion transport  Notch signaling pathway  voltage-gated potassium channel complex  voltage-gated potassium channel complex  response to mechanical stimulus  cell surface  response to organic substance  intercalated disc  outward rectifier potassium channel activity  outward rectifier potassium channel activity  integral component of membrane  regulation of vasoconstriction  protein kinase binding  Z disc  potassium channel complex  regulation of membrane potential  response to hydrogen peroxide  regulation of potassium ion transport  membrane raft  intracellular canaliculus  perinuclear region of cytoplasm  regulation of insulin secretion  protein homooligomerization  alpha-actinin binding  negative regulation of cytosolic calcium ion concentration  potassium ion homeostasis  response to hyperoxia  membrane hyperpolarization  regulation of atrial cardiac muscle cell membrane repolarization  potassium ion transmembrane transport  potassium ion transmembrane transport  atrial cardiac muscle cell action potential  membrane repolarization during bundle of His cell action potential  membrane repolarization during SA node cell action potential  membrane repolarization during SA node cell action potential  voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization  voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization  voltage-gated potassium channel activity involved in SA node cell action potential repolarization  regulation of heart rate by cardiac conduction  scaffold protein binding  potassium ion export across plasma membrane  potassium ion export across plasma membrane  membrane repolarization during atrial cardiac muscle cell action potential  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of myoblast proliferation  
NDEx NetworkKCNA5
Atlas of Cancer Signalling NetworkKCNA5
Wikipedia pathwaysKCNA5
Orthology - Evolution
OrthoDB3741
GeneTree (enSembl)ENSG00000130037
Phylogenetic Trees/Animal Genes : TreeFamKCNA5
HOGENOMP22460
Homologs : HomoloGeneKCNA5
Homology/Alignments : Family Browser (UCSC)KCNA5
Gene fusions - Rearrangements
Fusion : QuiverKCNA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNA5
dbVarKCNA5
ClinVarKCNA5
MonarchKCNA5
1000_GenomesKCNA5 
Exome Variant ServerKCNA5
GNOMAD BrowserENSG00000130037
Varsome BrowserKCNA5
Genetic variants : HAPMAP3741
Genomic Variants (DGV)KCNA5 [DGVbeta]
DECIPHERKCNA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNA5 
Mutations
ICGC Data PortalKCNA5 
TCGA Data PortalKCNA5 
Broad Tumor PortalKCNA5
OASIS PortalKCNA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNA5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNA5
Mutations and Diseases : HGMDKCNA5
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
BioMutasearch KCNA5
DgiDB (Drug Gene Interaction Database)KCNA5
DoCM (Curated mutations)KCNA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNA5 (select a term)
intoGenKCNA5
Cancer3DKCNA5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176267    612240   
Orphanet8592   
DisGeNETKCNA5
MedgenKCNA5
Genetic Testing Registry KCNA5
NextProtP22460 [Medical]
TSGene3741
GENETestsKCNA5
Target ValidationKCNA5
Huge Navigator KCNA5 [HugePedia]
snp3D : Map Gene to Disease3741
BioCentury BCIQKCNA5
ClinGenKCNA5
Clinical trials, drugs, therapy
Protein Interactions : CTD3741
Pharm GKB GenePA208
Clinical trialKCNA5
Miscellaneous
canSAR (ICR)KCNA5 (select the gene name)
HarmonizomeKCNA5
DataMed IndexKCNA5
Probes
Litterature
PubMed121 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNA5
EVEXKCNA5
GoPubMedKCNA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:16:30 CEST 2020
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