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PIP4K2C (phosphatidylinositol-5-phosphate 4-kinase type 2 gamma)

Identity

Alias_namesPIP5K2C
phosphatidylinositol-4-phosphate 5-kinase, type II, gamma
phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
Alias_symbol (synonym)FLJ22055
Other alias
HGNC (Hugo) PIP4K2C
LocusID (NCBI) 79837
Atlas_Id 47050
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 57984942 and ends at 57997211 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FRS2 (12q15) / PIP4K2C (12q13.3)LRIG3 (12q14.1) / PIP4K2C (12q13.3)PIP4K2C (12q13.3) / MIEN1 (17q12)
R3HDM2 (12q13.3) / PIP4K2C (12q13.3)WNK1 (12p13.33) / PIP4K2C (12q13.3)FRS2 12q15 / PIP4K2C 12q13.3
LRIG3 12q14.1 / PIP4K2C 12q13.3R3HDM2 12q13.3 / PIP4K2C 12q13.3WNK1 12p13.33 / PIP4K2C 12q13.3

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)PIP4K2C   23786
Cards
Entrez_Gene (NCBI)PIP4K2C  79837  phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
AliasesPIP5K2C
GeneCards (Weizmann)PIP4K2C
Ensembl hg19 (Hinxton)ENSG00000166908 [Gene_View]  chr12:57984942-57997211 [Contig_View]  PIP4K2C [Vega]
Ensembl hg38 (Hinxton)ENSG00000166908 [Gene_View]  chr12:57984942-57997211 [Contig_View]  PIP4K2C [Vega]
ICGC DataPortalENSG00000166908
TCGA cBioPortalPIP4K2C
AceView (NCBI)PIP4K2C
Genatlas (Paris)PIP4K2C
WikiGenes79837
SOURCE (Princeton)PIP4K2C
Genetics Home Reference (NIH)PIP4K2C
Genomic and cartography
GoldenPath hg19 (UCSC)PIP4K2C  -     chr12:57984942-57997211 +  12q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PIP4K2C  -     12q13.3   [Description]    (hg38-Dec_2013)
EnsemblPIP4K2C - 12q13.3 [CytoView hg19]  PIP4K2C - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIPIP4K2C [Mapview hg19]  PIP4K2C [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI167420 AK025708 AK075553 AK125526 AK225343
RefSeq transcript (Entrez)NM_001146258 NM_001146259 NM_001146260 NM_024779
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)PIP4K2C
Cluster EST : UnigeneHs.745011 [ NCBI ]
CGAP (NCI)Hs.745011
Alternative Splicing GalleryENSG00000166908
Gene ExpressionPIP4K2C [ NCBI-GEO ]   PIP4K2C [ EBI - ARRAY_EXPRESS ]   PIP4K2C [ SEEK ]   PIP4K2C [ MEM ]
Gene Expression Viewer (FireBrowse)PIP4K2C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79837
GTEX Portal (Tissue expression)PIP4K2C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TBX8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TBX8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TBX8
Splice isoforms : SwissVarQ8TBX8
Catalytic activity : Enzyme2.7.1.149 [ Enzyme-Expasy ]   2.7.1.1492.7.1.149 [ IntEnz-EBI ]   2.7.1.149 [ BRENDA ]   2.7.1.149 [ KEGG ]   
PhosPhoSitePlusQ8TBX8
Domaine pattern : Prosite (Expaxy)PIPK (PS51455)   
Domains : Interpro (EBI)PInositol-4-P-5-kinase    PInositol-4-P-5-kinase_C    PInositol-4-P-5-kinase_core    PInositol-4-P-5-kinase_N    PInositol-4P-5-kinase_core_sub   
Domain families : Pfam (Sanger)PIP5K (PF01504)   
Domain families : Pfam (NCBI)pfam01504   
Domain families : Smart (EMBL)PIPKc (SM00330)  
Conserved Domain (NCBI)PIP4K2C
DMDM Disease mutations79837
Blocks (Seattle)PIP4K2C
PDB (SRS)2GK9   
PDB (PDBSum)2GK9   
PDB (IMB)2GK9   
PDB (RSDB)2GK9   
Structural Biology KnowledgeBase2GK9   
SCOP (Structural Classification of Proteins)2GK9   
CATH (Classification of proteins structures)2GK9   
SuperfamilyQ8TBX8
Human Protein AtlasENSG00000166908
Peptide AtlasQ8TBX8
HPRD15138
IPIIPI00152303   IPI00902613   IPI00929676   IPI01021346   IPI01021005   IPI01021654   IPI01021505   IPI00929626   
Protein Interaction databases
DIP (DOE-UCLA)Q8TBX8
IntAct (EBI)Q8TBX8
FunCoupENSG00000166908
BioGRIDPIP4K2C
STRING (EMBL)PIP4K2C
ZODIACPIP4K2C
Ontologies - Pathways
QuickGOQ8TBX8
Ontology : AmiGOATP binding  autophagosome  endoplasmic reticulum  cytosol  phosphatidylinositol biosynthetic process  regulation of autophagy  regulation of phosphatidylinositol 3-kinase signaling  membrane  1-phosphatidylinositol-4-phosphate 5-kinase activity  1-phosphatidylinositol-5-phosphate 4-kinase activity  identical protein binding  phosphatidylinositol phosphorylation  extracellular exosome  positive regulation of autophagosome assembly  
Ontology : EGO-EBIATP binding  autophagosome  endoplasmic reticulum  cytosol  phosphatidylinositol biosynthetic process  regulation of autophagy  regulation of phosphatidylinositol 3-kinase signaling  membrane  1-phosphatidylinositol-4-phosphate 5-kinase activity  1-phosphatidylinositol-5-phosphate 4-kinase activity  identical protein binding  phosphatidylinositol phosphorylation  extracellular exosome  positive regulation of autophagosome assembly  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system    Regulation of actin cytoskeleton   
NDEx NetworkPIP4K2C
Atlas of Cancer Signalling NetworkPIP4K2C
Wikipedia pathwaysPIP4K2C
Orthology - Evolution
OrthoDB79837
GeneTree (enSembl)ENSG00000166908
Phylogenetic Trees/Animal Genes : TreeFamPIP4K2C
HOVERGENQ8TBX8
HOGENOMQ8TBX8
Homologs : HomoloGenePIP4K2C
Homology/Alignments : Family Browser (UCSC)PIP4K2C
Gene fusions - Rearrangements
Fusion : MitelmanFRS2/PIP4K2C [12q15/12q13.3]  [t(12;12)(q13;q15)]  
Fusion : MitelmanLRIG3/PIP4K2C [12q14.1/12q13.3]  [t(12;12)(q13;q14)]  
Fusion : MitelmanR3HDM2/PIP4K2C [12q13.3/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanWNK1/PIP4K2C [12p13.33/12q13.3]  [t(12;12)(p13;q13)]  
Fusion: TCGAFRS2 12q15 PIP4K2C 12q13.3 LUAD
Fusion: TCGALRIG3 12q14.1 PIP4K2C 12q13.3 BRCA
Fusion: TCGAR3HDM2 12q13.3 PIP4K2C 12q13.3 GBM
Fusion: TCGAWNK1 12p13.33 PIP4K2C 12q13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIP4K2C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIP4K2C
dbVarPIP4K2C
ClinVarPIP4K2C
1000_GenomesPIP4K2C 
Exome Variant ServerPIP4K2C
ExAC (Exome Aggregation Consortium)PIP4K2C (select the gene name)
Genetic variants : HAPMAP79837
Genomic Variants (DGV)PIP4K2C [DGVbeta]
DECIPHER (Syndromes)12:57984942-57997211  ENSG00000166908
CONAN: Copy Number AnalysisPIP4K2C 
Mutations
ICGC Data PortalPIP4K2C 
TCGA Data PortalPIP4K2C 
Broad Tumor PortalPIP4K2C
OASIS PortalPIP4K2C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIP4K2C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIP4K2C
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 PIP4K2C
DgiDB (Drug Gene Interaction Database)PIP4K2C
DoCM (Curated mutations)PIP4K2C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIP4K2C (select a term)
intoGenPIP4K2C
Cancer3DPIP4K2C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPIP4K2C
Genetic Testing Registry PIP4K2C
NextProtQ8TBX8 [Medical]
TSGene79837
GENETestsPIP4K2C
Huge Navigator PIP4K2C [HugePedia]
snp3D : Map Gene to Disease79837
BioCentury BCIQPIP4K2C
ClinGenPIP4K2C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79837
Chemical/Pharm GKB GenePA162399665
Clinical trialPIP4K2C
Miscellaneous
canSAR (ICR)PIP4K2C (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIP4K2C
EVEXPIP4K2C
GoPubMedPIP4K2C
iHOPPIP4K2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:28 CET 2017

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