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KCNN4 (potassium calcium-activated channel subfamily N member 4)

Identity

Alias_namespotassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
Alias_symbol (synonym)KCa3.1
hSK4
hKCa4
hIKCa1
IK
Other aliasDHS2
IK1
IKCA1
KCA4
SK4
HGNC (Hugo) KCNN4
LocusID (NCBI) 3783
Atlas_Id 49764
Location 19q13.31  [Link to chromosome band 19q13]
Location_base_pair Starts at 43766533 and ends at 43781257 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)
BCL6 (3q27.3) / KCNN4 (19q13.31)KCNN4 (19q13.31) / BCL6 (3q27.3)KCNN4 (19q13.31) / GYS1 (19q13.33)
PLEKHM1 (17q21.31) / KCNN4 (19q13.31)SMG9 (19q13.31) / KCNN4 (19q13.31)SMG9 19q13.31 / KCNN4 19q13.31

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(19;19)(q13;q13) SMG9/KCNN4


External links

Nomenclature
HGNC (Hugo)KCNN4   6293
Cards
Entrez_Gene (NCBI)KCNN4  3783  potassium calcium-activated channel subfamily N member 4
AliasesDHS2; IK; IK1; IKCA1; 
KCA4; KCa3.1; SK4; hIKCa1; hKCa4; hSK4
GeneCards (Weizmann)KCNN4
Ensembl hg19 (Hinxton)ENSG00000104783 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104783 [Gene_View]  ENSG00000104783 [Sequence]  chr19:43766533-43781257 [Contig_View]  KCNN4 [Vega]
ICGC DataPortalENSG00000104783
TCGA cBioPortalKCNN4
AceView (NCBI)KCNN4
Genatlas (Paris)KCNN4
WikiGenes3783
SOURCE (Princeton)KCNN4
Genetics Home Reference (NIH)KCNN4
Genomic and cartography
GoldenPath hg38 (UCSC)KCNN4  -     chr19:43766533-43781257 -  19q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNN4  -     19q13.31   [Description]    (hg19-Feb_2009)
EnsemblKCNN4 - 19q13.31 [CytoView hg19]  KCNN4 - 19q13.31 [CytoView hg38]
Mapping of homologs : NCBIKCNN4 [Mapview hg19]  KCNN4 [Mapview hg38]
OMIM602754   616689   
Gene and transcription
Genbank (Entrez)AB128983 AB128984 AB128985 AF000972 AF022150
RefSeq transcript (Entrez)NM_002250
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNN4
Cluster EST : UnigeneHs.10082 [ NCBI ]
CGAP (NCI)Hs.10082
Alternative Splicing GalleryENSG00000104783
Gene ExpressionKCNN4 [ NCBI-GEO ]   KCNN4 [ EBI - ARRAY_EXPRESS ]   KCNN4 [ SEEK ]   KCNN4 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNN4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3783
GTEX Portal (Tissue expression)KCNN4
Human Protein AtlasENSG00000104783-KCNN4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15554   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15554  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15554
Splice isoforms : SwissVarO15554
PhosPhoSitePlusO15554
Domains : Interpro (EBI)CaM-bd_dom    K_chnl_Ca-activ_SK    K_chnl_dom   
Domain families : Pfam (Sanger)CaMBD (PF02888)    Ion_trans_2 (PF07885)    SK_channel (PF03530)   
Domain families : Pfam (NCBI)pfam02888    pfam07885    pfam03530   
Domain families : Smart (EMBL)CaMBD (SM01053)  
Conserved Domain (NCBI)KCNN4
DMDM Disease mutations3783
Blocks (Seattle)KCNN4
SuperfamilyO15554
Human Protein Atlas [tissue]ENSG00000104783-KCNN4 [tissue]
Peptide AtlasO15554
HPRD04130
IPIIPI00032466   IPI00954915   
Protein Interaction databases
DIP (DOE-UCLA)O15554
IntAct (EBI)O15554
FunCoupENSG00000104783
BioGRIDKCNN4
STRING (EMBL)KCNN4
ZODIACKCNN4
Ontologies - Pathways
QuickGOO15554
Ontology : AmiGOimmune system process  potassium channel activity  protein binding  calmodulin binding  plasma membrane  plasma membrane  potassium ion transport  calcium ion transport  cell volume homeostasis  defense response  voltage-gated potassium channel complex  calcium-activated potassium channel activity  small conductance calcium-activated potassium channel activity  protein phosphatase binding  stabilization of membrane potential  vesicle  neuronal cell body  phospholipid translocation  saliva secretion  positive regulation of protein secretion  positive regulation of T cell receptor signaling pathway  potassium ion transmembrane transport  
Ontology : EGO-EBIimmune system process  potassium channel activity  protein binding  calmodulin binding  plasma membrane  plasma membrane  potassium ion transport  calcium ion transport  cell volume homeostasis  defense response  voltage-gated potassium channel complex  calcium-activated potassium channel activity  small conductance calcium-activated potassium channel activity  protein phosphatase binding  stabilization of membrane potential  vesicle  neuronal cell body  phospholipid translocation  saliva secretion  positive regulation of protein secretion  positive regulation of T cell receptor signaling pathway  potassium ion transmembrane transport  
NDEx NetworkKCNN4
Atlas of Cancer Signalling NetworkKCNN4
Wikipedia pathwaysKCNN4
Orthology - Evolution
OrthoDB3783
GeneTree (enSembl)ENSG00000104783
Phylogenetic Trees/Animal Genes : TreeFamKCNN4
HOVERGENO15554
HOGENOMO15554
Homologs : HomoloGeneKCNN4
Homology/Alignments : Family Browser (UCSC)KCNN4
Gene fusions - Rearrangements
Fusion : MitelmanSMG9/KCNN4 [19q13.31/19q13.31]  [t(19;19)(q13;q13)]  
Fusion PortalSMG9 19q13.31 KCNN4 19q13.31 BLCA
Fusion : QuiverKCNN4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNN4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNN4
dbVarKCNN4
ClinVarKCNN4
1000_GenomesKCNN4 
Exome Variant ServerKCNN4
ExAC (Exome Aggregation Consortium)ENSG00000104783
GNOMAD BrowserENSG00000104783
Genetic variants : HAPMAP3783
Genomic Variants (DGV)KCNN4 [DGVbeta]
DECIPHERKCNN4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNN4 
Mutations
ICGC Data PortalKCNN4 
TCGA Data PortalKCNN4 
Broad Tumor PortalKCNN4
OASIS PortalKCNN4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNN4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNN4
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 KCNN4
DgiDB (Drug Gene Interaction Database)KCNN4
DoCM (Curated mutations)KCNN4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNN4 (select a term)
intoGenKCNN4
Cancer3DKCNN4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602754    616689   
Orphanet3657   
DisGeNETKCNN4
MedgenKCNN4
Genetic Testing Registry KCNN4
NextProtO15554 [Medical]
TSGene3783
GENETestsKCNN4
Target ValidationKCNN4
Huge Navigator KCNN4 [HugePedia]
snp3D : Map Gene to Disease3783
BioCentury BCIQKCNN4
ClinGenKCNN4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3783
Chemical/Pharm GKB GenePA222
Clinical trialKCNN4
Miscellaneous
canSAR (ICR)KCNN4 (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNN4
EVEXKCNN4
GoPubMedKCNN4
iHOPKCNN4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:31:50 CEST 2018

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