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PI4KA (phosphatidylinositol 4-kinase alpha)

Identity

Alias_namesPIK4CA
phosphatidylinositol 4-kinase
Alias_symbol (synonym)PI4K-ALPHA
pi4K230
Other aliasPMGYCHA
HGNC (Hugo) PI4KA
LocusID (NCBI) 5297
Atlas_Id 54852
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 20707691 and ends at 20858812 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCR (22q11.23) / PI4KA (22q11.21)CTSH (15q25.1) / PI4KA (22q11.21)GNL3 (3p21.1) / PI4KA (22q11.21)
MED15 (22q11.21) / PI4KA (22q11.21)PI4KA (22q11.21) / FAM175A (4q21.23)PI4KA (22q11.21) / FAM19A5 (22q13.32)
PI4KA (22q11.21) / GBP3 (1p22.2)PI4KA (22q11.21) / PRODH (22q11.21)PI4KA (22q11.21) / RREB1 (6p24.3)
PI4KA (22q11.21) / UCHL5 (1q31.2)PI4KA (22q11.21) / WIPI2 (7p22.1)PI4KA (22q11.21) / ZNF274 (19q13.43)
MED15 22q11.21 / PI4KA 22q11.21PI4KA 22q11.21 / FAM175A 4q21.23PI4KA 22q11.21 / FAM19A5 22q13.32
PI4KA 22q11.21 / PRODH 22q11.21PI4KA 22q11.21 / RREB1 6p24.3PI4KA 22q11.21 / ZNF274 19q13.43

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)PI4KA   8983
Cards
Entrez_Gene (NCBI)PI4KA  5297  phosphatidylinositol 4-kinase alpha
AliasesPI4K-ALPHA; PIK4CA; PMGYCHA; pi4K230
GeneCards (Weizmann)PI4KA
Ensembl hg19 (Hinxton)ENSG00000241973 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000241973 [Gene_View]  chr22:20707691-20858812 [Contig_View]  PI4KA [Vega]
ICGC DataPortalENSG00000241973
TCGA cBioPortalPI4KA
AceView (NCBI)PI4KA
Genatlas (Paris)PI4KA
WikiGenes5297
SOURCE (Princeton)PI4KA
Genetics Home Reference (NIH)PI4KA
Genomic and cartography
GoldenPath hg38 (UCSC)PI4KA  -     chr22:20707691-20858812 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PI4KA  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblPI4KA - 22q11.21 [CytoView hg19]  PI4KA - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIPI4KA [Mapview hg19]  PI4KA [Mapview hg38]
OMIM600286   616531   
Gene and transcription
Genbank (Entrez)AB210002 AF012872 AK094594 AK095811 AK124692
RefSeq transcript (Entrez)NM_002650 NM_058004
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PI4KA
Cluster EST : UnigeneHs.731386 [ NCBI ]
CGAP (NCI)Hs.731386
Alternative Splicing GalleryENSG00000241973
Gene ExpressionPI4KA [ NCBI-GEO ]   PI4KA [ EBI - ARRAY_EXPRESS ]   PI4KA [ SEEK ]   PI4KA [ MEM ]
Gene Expression Viewer (FireBrowse)PI4KA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5297
GTEX Portal (Tissue expression)PI4KA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42356   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP42356  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42356
Splice isoforms : SwissVarP42356
PhosPhoSitePlusP42356
Domaine pattern : Prosite (Expaxy)PI3_4_KINASE_1 (PS00915)    PI3_4_KINASE_2 (PS00916)    PI3_4_KINASE_3 (PS50290)    PIK_HELICAL (PS51545)   
Domains : Interpro (EBI)ARM-type_fold    Kinase-like_dom    PI3/4_kinase_cat_dom    PI3/4_kinase_CS    PI_Kinase    PInositide-3_kin_accessory_dom   
Domain families : Pfam (Sanger)PI3_PI4_kinase (PF00454)    PI3Ka (PF00613)   
Domain families : Pfam (NCBI)pfam00454    pfam00613   
Domain families : Smart (EMBL)PI3Ka (SM00145)  PI3Kc (SM00146)  
Conserved Domain (NCBI)PI4KA
DMDM Disease mutations5297
Blocks (Seattle)PI4KA
SuperfamilyP42356
Human Protein AtlasENSG00000241973
Peptide AtlasP42356
HPRD08972
IPIIPI00070943   IPI00031424   IPI00902873   IPI00879743   
Protein Interaction databases
DIP (DOE-UCLA)P42356
IntAct (EBI)P42356
FunCoupENSG00000241973
BioGRIDPI4KA
STRING (EMBL)PI4KA
ZODIACPI4KA
Ontologies - Pathways
QuickGOP42356
Ontology : AmiGO1-phosphatidylinositol 4-kinase activity  1-phosphatidylinositol 4-kinase activity  1-phosphatidylinositol 4-kinase activity  protein binding  ATP binding  cytoplasm  cytosol  plasma membrane  focal adhesion  phosphatidylinositol biosynthetic process  signal transduction  membrane  kinase activity  phosphorylation  viral replication complex  Golgi-associated vesicle membrane  viral RNA genome replication  multi-organism membrane organization  cadherin binding  viral replication complex formation and maintenance  phosphatidylinositol phosphorylation  phosphatidylinositol-mediated signaling  extracellular exosome  
Ontology : EGO-EBI1-phosphatidylinositol 4-kinase activity  1-phosphatidylinositol 4-kinase activity  1-phosphatidylinositol 4-kinase activity  protein binding  ATP binding  cytoplasm  cytosol  plasma membrane  focal adhesion  phosphatidylinositol biosynthetic process  signal transduction  membrane  kinase activity  phosphorylation  viral replication complex  Golgi-associated vesicle membrane  viral RNA genome replication  multi-organism membrane organization  cadherin binding  viral replication complex formation and maintenance  phosphatidylinositol phosphorylation  phosphatidylinositol-mediated signaling  extracellular exosome  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
NDEx NetworkPI4KA
Atlas of Cancer Signalling NetworkPI4KA
Wikipedia pathwaysPI4KA
Orthology - Evolution
OrthoDB5297
GeneTree (enSembl)ENSG00000241973
Phylogenetic Trees/Animal Genes : TreeFamPI4KA
HOVERGENP42356
HOGENOMP42356
Homologs : HomoloGenePI4KA
Homology/Alignments : Family Browser (UCSC)PI4KA
Gene fusions - Rearrangements
Fusion : MitelmanMED15/PI4KA [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion : MitelmanPI4KA/FAM175A [22q11.21/4q21.23]  [t(4;22)(q21;q11)]  
Fusion : MitelmanPI4KA/FAM19A5 [22q11.21/22q13.32]  [t(22;22)(q11;q13)]  
Fusion : MitelmanPI4KA/PRODH [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion : MitelmanPI4KA/RREB1 [22q11.21/6p24.3]  [t(6;22)(p24;q11)]  
Fusion : MitelmanPI4KA/ZNF274 [22q11.21/19q13.43]  [t(19;22)(q13;q11)]  
Fusion: TCGAMED15 22q11.21 PI4KA 22q11.21 LUSC
Fusion: TCGAPI4KA 22q11.21 FAM175A 4q21.23 PRAD
Fusion: TCGAPI4KA 22q11.21 FAM19A5 22q13.32 BRCA
Fusion: TCGAPI4KA 22q11.21 PRODH 22q11.21 LUSC
Fusion: TCGAPI4KA 22q11.21 RREB1 6p24.3 LUSC
Fusion: TCGAPI4KA 22q11.21 ZNF274 19q13.43 LUAD
Fusion Cancer (Beijing)CTSH [15q25.1]  -  PI4KA [22q11.21]  [FUSC002568]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPI4KA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PI4KA
dbVarPI4KA
ClinVarPI4KA
1000_GenomesPI4KA 
Exome Variant ServerPI4KA
ExAC (Exome Aggregation Consortium)PI4KA (select the gene name)
Genetic variants : HAPMAP5297
Genomic Variants (DGV)PI4KA [DGVbeta]
DECIPHERPI4KA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPI4KA 
Mutations
ICGC Data PortalPI4KA 
TCGA Data PortalPI4KA 
Broad Tumor PortalPI4KA
OASIS PortalPI4KA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPI4KA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPI4KA
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 PI4KA
DgiDB (Drug Gene Interaction Database)PI4KA
DoCM (Curated mutations)PI4KA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PI4KA (select a term)
intoGenPI4KA
Cancer3DPI4KA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600286    616531   
Orphanet13906   
MedgenPI4KA
Genetic Testing Registry PI4KA
NextProtP42356 [Medical]
TSGene5297
GENETestsPI4KA
Huge Navigator PI4KA [HugePedia]
snp3D : Map Gene to Disease5297
BioCentury BCIQPI4KA
ClinGenPI4KA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5297
Chemical/Pharm GKB GenePA162399305
Clinical trialPI4KA
Miscellaneous
canSAR (ICR)PI4KA (select the gene name)
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePI4KA
EVEXPI4KA
GoPubMedPI4KA
iHOPPI4KA
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 12:31:08 CEST 2017

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