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PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing)

Identity

Alias_namesFYVE domain containing 29
PIP5K3
Alias_symbol (synonym)MGC40423
KIAA0981
PIKfyve
PIP5K
p235
ZFYVE29
FAB1
Other aliasCFD
HEL37
HGNC (Hugo) PIKFYVE
LocusID (NCBI) 200576
Atlas_Id 50888
Location 2q34  [Link to chromosome band 2q34]
Location_base_pair Starts at 208266267 and ends at 208305547 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PIKFYVE (2q34) / PIKFYVE (2q34)PIKFYVE (2q34) / SMR3B (4q13.3)PIKFYVE (2q34) / TMEM119 (12q23.3)
PIKFYVE (2q34) / ZNF124 (1q44)PIKFYVE 2q34 / ZNF124 1q44

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)PIKFYVE   23785
Cards
Entrez_Gene (NCBI)PIKFYVE  200576  phosphoinositide kinase, FYVE-type zinc finger containing
AliasesCFD; FAB1; HEL37; PIP5K; 
PIP5K3; ZFYVE29
GeneCards (Weizmann)PIKFYVE
Ensembl hg19 (Hinxton)ENSG00000115020 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115020 [Gene_View]  chr2:208266267-208305547 [Contig_View]  PIKFYVE [Vega]
ICGC DataPortalENSG00000115020
TCGA cBioPortalPIKFYVE
AceView (NCBI)PIKFYVE
Genatlas (Paris)PIKFYVE
WikiGenes200576
SOURCE (Princeton)PIKFYVE
Genetics Home Reference (NIH)PIKFYVE
Genomic and cartography
GoldenPath hg38 (UCSC)PIKFYVE  -     chr2:208266267-208305547 +  2q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIKFYVE  -     2q34   [Description]    (hg19-Feb_2009)
EnsemblPIKFYVE - 2q34 [CytoView hg19]  PIKFYVE - 2q34 [CytoView hg38]
Mapping of homologs : NCBIPIKFYVE [Mapview hg19]  PIKFYVE [Mapview hg38]
OMIM121850   609414   
Gene and transcription
Genbank (Entrez)AB023198 AK091482 AK127769 AL122124 AY457063
RefSeq transcript (Entrez)NM_001002881 NM_001178000 NM_015040 NM_152671
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIKFYVE
Cluster EST : UnigeneHs.744997 [ NCBI ]
CGAP (NCI)Hs.744997
Alternative Splicing GalleryENSG00000115020
Gene ExpressionPIKFYVE [ NCBI-GEO ]   PIKFYVE [ EBI - ARRAY_EXPRESS ]   PIKFYVE [ SEEK ]   PIKFYVE [ MEM ]
Gene Expression Viewer (FireBrowse)PIKFYVE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)200576
GTEX Portal (Tissue expression)PIKFYVE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2I7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2I7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2I7
Splice isoforms : SwissVarQ9Y2I7
Catalytic activity : Enzyme2.7.1.150 [ Enzyme-Expasy ]   2.7.1.1502.7.1.150 [ IntEnz-EBI ]   2.7.1.150 [ BRENDA ]   2.7.1.150 [ KEGG ]   
PhosPhoSitePlusQ9Y2I7
Domaine pattern : Prosite (Expaxy)DEP (PS50186)    PIPK (PS51455)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)Cpn60/TCP-1    DEP_dom    GroEL-like_apical_dom    PInositol-4-P-5-kinase_C    PInositol-4-P-5-kinase_core    PInositol-4-P-5-kinase_N    TCP-1-like_intermed    WHTH_DNA-bd_dom    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Cpn60_TCP1 (PF00118)    DEP (PF00610)    FYVE (PF01363)    PIP5K (PF01504)   
Domain families : Pfam (NCBI)pfam00118    pfam00610    pfam01363    pfam01504   
Domain families : Smart (EMBL)DEP (SM00049)  FYVE (SM00064)  PIPKc (SM00330)  
Conserved Domain (NCBI)PIKFYVE
DMDM Disease mutations200576
Blocks (Seattle)PIKFYVE
SuperfamilyQ9Y2I7
Human Protein AtlasENSG00000115020
Peptide AtlasQ9Y2I7
HPRD17852
IPIIPI00396145   IPI00181535   IPI00872138   IPI00879699   IPI00879572   IPI00748184   IPI00927849   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2I7
IntAct (EBI)Q9Y2I7
FunCoupENSG00000115020
BioGRIDPIKFYVE
STRING (EMBL)PIKFYVE
ZODIACPIKFYVE
Ontologies - Pathways
QuickGOQ9Y2I7
Ontology : AmiGOGolgi membrane  1-phosphatidylinositol-3-phosphate 5-kinase activity  protein binding  ATP binding  cytosol  cell-cell junction  'de novo' protein folding  phosphatidylinositol biosynthetic process  receptor-mediated endocytosis  zinc ion binding  endosome membrane  vesicle membrane  1-phosphatidylinositol-4-phosphate 5-kinase activity  early endosome membrane  early endosome membrane  late endosome membrane  myelin assembly  protein localization to nucleus  intracellular signal transduction  phosphatidylinositol-3-phosphate biosynthetic process  retrograde transport, endosome to Golgi  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  protein binding involved in protein folding  membrane raft  phosphatidylinositol phosphorylation  perinuclear region of cytoplasm  unfolded protein binding  chaperone-mediated protein folding  phosphatidylinositol 5-phosphate metabolic process  regulation of autophagosome assembly  
Ontology : EGO-EBIGolgi membrane  1-phosphatidylinositol-3-phosphate 5-kinase activity  protein binding  ATP binding  cytosol  cell-cell junction  'de novo' protein folding  phosphatidylinositol biosynthetic process  receptor-mediated endocytosis  zinc ion binding  endosome membrane  vesicle membrane  1-phosphatidylinositol-4-phosphate 5-kinase activity  early endosome membrane  early endosome membrane  late endosome membrane  myelin assembly  protein localization to nucleus  intracellular signal transduction  phosphatidylinositol-3-phosphate biosynthetic process  retrograde transport, endosome to Golgi  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  protein binding involved in protein folding  membrane raft  phosphatidylinositol phosphorylation  perinuclear region of cytoplasm  unfolded protein binding  chaperone-mediated protein folding  phosphatidylinositol 5-phosphate metabolic process  regulation of autophagosome assembly  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system    Phagosome    Regulation of actin cytoskeleton   
NDEx NetworkPIKFYVE
Atlas of Cancer Signalling NetworkPIKFYVE
Wikipedia pathwaysPIKFYVE
Orthology - Evolution
OrthoDB200576
GeneTree (enSembl)ENSG00000115020
Phylogenetic Trees/Animal Genes : TreeFamPIKFYVE
HOVERGENQ9Y2I7
HOGENOMQ9Y2I7
Homologs : HomoloGenePIKFYVE
Homology/Alignments : Family Browser (UCSC)PIKFYVE
Gene fusions - Rearrangements
Fusion : MitelmanPIKFYVE/TMEM119 [2q34/12q23.3]  
Fusion: TCGAPIKFYVE 2q34 ZNF124 1q44 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIKFYVE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIKFYVE
dbVarPIKFYVE
ClinVarPIKFYVE
1000_GenomesPIKFYVE 
Exome Variant ServerPIKFYVE
ExAC (Exome Aggregation Consortium)PIKFYVE (select the gene name)
Genetic variants : HAPMAP200576
Genomic Variants (DGV)PIKFYVE [DGVbeta]
DECIPHERPIKFYVE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIKFYVE 
Mutations
ICGC Data PortalPIKFYVE 
TCGA Data PortalPIKFYVE 
Broad Tumor PortalPIKFYVE
OASIS PortalPIKFYVE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIKFYVE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIKFYVE
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 PIKFYVE
DgiDB (Drug Gene Interaction Database)PIKFYVE
DoCM (Curated mutations)PIKFYVE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIKFYVE (select a term)
intoGenPIKFYVE
Cancer3DPIKFYVE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121850    609414   
Orphanet13987   
MedgenPIKFYVE
Genetic Testing Registry PIKFYVE
NextProtQ9Y2I7 [Medical]
TSGene200576
GENETestsPIKFYVE
Target ValidationPIKFYVE
Huge Navigator PIKFYVE [HugePedia]
snp3D : Map Gene to Disease200576
BioCentury BCIQPIKFYVE
ClinGenPIKFYVE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200576
Chemical/Pharm GKB GenePA165697116
Clinical trialPIKFYVE
Miscellaneous
canSAR (ICR)PIKFYVE (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIKFYVE
EVEXPIKFYVE
GoPubMedPIKFYVE
iHOPPIKFYVE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:10:42 CEST 2017

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