PIKFYVE Gene
protein-coding GIFtS: 62
GCID: GC02P209130
|
|
phosphoinositide kinase, FYVE finger containing(Previous names: phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase,...)
(Previous symbol: PIP5K3)
| |
Aliases
for PIKFYVE gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Phosphoinositide Kinase, FYVE Finger Containing1 2 | | MGC404231 | | PIP5K31 2 3 5 | | P2351 | | PIP5K1 2 | | 1-Phosphatidylinositol 3-Phosphate 5-Kinase2 | | ZFYVE291 2 | | 1-Phosphatidylinositol-3-Phosphate 5-Kinase2 | | Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase, Type III1 2 | | CFD2 | | KIAA09811 3 | | FAB12 | | PIKfyve1 3 | | Zinc Finger, FYVE Domain Containing 292 | | Phosphatidylinositol 3-Phosphate 5-Kinase Type III2 3 | | EC 2.7.1.1503 | | Type III PIP Kinase2 3 | | FYVE Finger-Containing Phosphoinositide Kinase3 | | PIPkin-III2 3 | | Phosphatidylinositol 3-Phosphate 5-Kinase3 |
Export aliases for PIKFYVE gene to outside databasesPrevious GC identifers: GC02P208840 GC02P200979 |
Summaries
for PIKFYVE gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PIKFYVE:
Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, andreceptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdInsproteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme(PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. TheD-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes andpreferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyveregulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from earlyendosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized bynumerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to bekeratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing resultsin multiple transcript variants encoding distinct isoforms.(provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifthhydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolarpathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicularbodies (MVB) transport intermediates from early endosomes
Gene Wiki entry for PIKFYVE
|
Genomic Views
for PIKFYVE gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PIKFYVE gene promoter:
STAT5B Pax-5 HOXA3 MIF-1 Evi-1 C/EBPalpha CHOP-10 c-Myb ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for PIKFYVE
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIKFYVE |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q34 Ensembl cytogenetic band: 2q34 HGNC cytogenetic band: 2q34PIKFYVE Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P209130: view genomic region
(about GC identifiers)
Start:
|
209,130,991 bp from pter |
End:
|
209,223,475 bp from pter |
Size:
|
92,485 bases |
Orientation:
|
plus strand |
|
Proteins
for PIKFYVE gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7 (See
protein sequence)Recommended Name: 1-phosphatidylinositol 3-phosphate 5-kinase Size: 2098 amino acids; 237136 Da
Subunit: Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14nucleates the assembly of the complex and serves as a scaffold
Subcellular location: Endosome membrane. Note=Mainly associated with membranes of the late endocytic pathway
Sequence caution: Sequence=BAC03674.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q08AR7 Q08AR8 Q53ST3 Q53T36 Q8N5H0 Q8NB67Alternative splicing: 4 isoforms: Q9Y2I7-1 Q9Y2I7-2 Q9Y2I7-3 Q9Y2I7-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PIKFYVE: NX_Q9Y2I7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y2I7
PIKFYVE Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001171471.1 NP_055855.2 NP_689884.1
ENSEMBL proteins: ENSP00000376038 ENSP00000407692 ENSP00000264380 ENSP00000384356 ENSP00000308715 ENSP00000414477 ENSP00000405736 Reactome Protein details: Q9Y2I7
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
PIKFYVE for ontologies About GeneDecksing
PIKFYVE Antibody Products:
Assay Products for PIKFYVE: |
Protein
Domains /
Families
for PIKFYVE gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PIKFYVE for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q9Y2I7ProtoNet protein and cluster: Q9Y2I7 2 Blocks protein families: IPB000306 Zn-finger IPB002498 Phosphatidylinositol-4-phosphate 5-kinase
UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7Similarity: Contains 1 DEP domainSimilarity: Contains 1 FYVE-type zinc fingerSimilarity: Contains 1 PIPK domain |
Function
for PIKFYVE gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifthhydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolarpathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicularbodies (MVB) transport intermediates from early endosomesCatalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 3-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol3,5-bisphosphateEnzyme Number (IUBMB): EC 2.7.1.1501
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PIKFYVE (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PIKFYVE (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): PIKFYVE (NM_152671) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PIKFYVE | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIKFYVE |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIKFYVE |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
PIKFYVE for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PIKFYVE:
Animal Models:
Mouse knock-out Pikfyvetm1.2Ashi for PIKFYVE
12 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Pikfyve):
PIKFYVE for phenotypes About GeneDecksing
|
Pathways & Interactions
for PIKFYVE gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Inositol phosphate metabolism | | | 2 | Synthesis of PIPs at the Golgi membrane | | | 3 | PI Metabolism | | | 4 | Metabolism | | | 5 | Phagosome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  GeneGo (Thomson Reuters) Pathway for PIKFYVE
2  BioSystems Pathways for PIKFYVE
5/7 
Reactome Pathways for PIKFYVE (see all 7)
4 
Kegg Pathways (Kegg details for PIKFYVE):
PIKFYVE for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIKFYVE
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/101 Interacting proteins for PIKFYVE (Q9Y2I72, 3 ENSP000002643804) via UniProtKB, MINT, STRING, and/or I2D (see all 101)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
PIKFYVE for ontologies About GeneDecksing
|
Drugs & Compounds
for PIKFYVE gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PIKFYVE for compounds About GeneDecksing
 Browse Tocris compounds for PIKFYVE
3 HMDB Compounds for PIKFYVE About this table
10/19 Novoseek chemical compound relationships for PIKFYVE gene (see all 19) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphoinositide |
81.5 |
13 |
17010122 (1), 14614849 (1), 19582903 (1), 19171150 (1) (see all 10) |
| ptdins(3)p |
80.4 |
6 |
15591657 (1), 11431481 (1), 15546921 (1) |
| phosphatidylinositol |
68 |
27 |
11706043 (4), 11714711 (2), 19951917 (1), 11285266 (1) (see all 9) |
| pip2 |
67.2 |
2 |
9832529 (2) |
| lipid |
46.6 |
13 |
11123925 (5), 11285266 (1), 11714711 (1), 11112776 (1) (see all 7) |
| phosphonate |
40.9 |
4 |
11706043 (2), 11714711 (1) |
| inositol 1,4,5 trisphosphate |
37.2 |
1 |
7674820 (1) |
| tyrosine |
36.7 |
4 |
19917259 (1), 11476939 (1), 9839541 (1) |
| katp |
36.4 |
4 |
10639183 (3) |
| serine |
27.7 |
6 |
20110679 (1), 19232516 (1), 17982255 (1), 17570343 (1) (see all 6) |
Search CenterWatch for drugs/clinical trials and news about PIKFYVE / FYV1
|
Transcripts
for PIKFYVE gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PIKFYVE gene (4 alternative transcripts): NM_001178000.1 NM_015040.3 NM_152671.3 NM_001002881.1 Unigene Cluster for PIKFYVE: Phosphoinositide kinase, FYVE finger containing Hs.173939 [show with all ESTs]Unigene Representative Sequence: NM_0150409 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000392202(uc002vcw.3 uc002vcv.3 uc002vcx.3) ENST00000443896
ENST00000264380(uc010fun.1 uc002vcy.1 uc002vcz.3) ENST00000407449
ENST00000308862 ENST00000422495 ENST00000452564 ENST00000477200 ENST00000474721
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PIKFYVE (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PIKFYVE (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): PIKFYVE (NM_152671) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PIKFYVE | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIKFYVE |
Additional cDNA sequence: AB023198.1 AK091482.1 AK127769.1 AL122124.1 AY457063.1 BC017736.2 BC032389.1 BC035705.1 BC125052.1 BC125053.1 16 DOTS entries: DT.95367220 DT.95367222 DT.91917470 DT.120999190 DT.95365595 DT.75136237 DT.91762597 DT.120999233 DT.100777205 DT.206483 DT.75161007 DT.40125970 DT.75187037 DT.92056918 DT.95367219 DT.95283266 24/165 AceView cDNA sequences (see all 165): AA488976 BC032389 CR620960 BX472852 BE044493 BX279732 NM_152671 AI382229 Z44728 BQ226965 BQ212580 AA330216 NM_015040 BI818267 AA442484 CR624088 BE672369 AA488753 AA595183 W87701 CB143165 BQ229836 CA396537 BC017736
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for PIKFYVE About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PIKFYVE
|
Expression
for PIKFYVE gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PIKFYVE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTATTTAAAA
About this image
See PIKFYVE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PIKFYVE
SOURCE GeneReport for Unigene cluster: Hs.173939
SABiosciences Expression via Pathway-Focused PCR Array including PIKFYVE:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PIKFYVE
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PIKFYVE | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIKFYVE | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIKFYVE | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIKFYVE |
Orthologs
for PIKFYVE gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for PIKFYVE gene from 8/27 species (see all 27) About this table
ENSEMBL Gene Tree for PIKFYVE (if available)
TreeFam Gene Tree for PIKFYVE (if available) |
Paralogs
for PIKFYVE gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PIKFYVE gene
- ZFYVE212 ZFYVE282
PIKFYVE for paralogs About GeneDecksing
|
Genomic Variants
for PIKFYVE gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PIKFYVE (209130991 - 209223475 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PIKFYVE
1 Indel: 58961
Human Gene Mutation Database (HGMD): PIKFYVE
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PIKFYVE |
|
Disorders
/ Diseases
for PIKFYVE gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PIKFYVE for disorders About GeneDecksing
OMIM gene information: 609414
OMIM disorders: 121850
UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7
Defects in PIKFYVE are the cause of corneal fleck dystrophy (CFD) [MIM:121850]. CFD is an autosomal dominantdisorder of the cornea characterized by numerous small white flecks scattered in all levels of the stroma. AlthoughCFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision
7  diseases for PIKFYVE: About MalaCardscorneal fleck dystrophy corneal dystrophy measles ovarian carcinoma
breast carcinoma carcinoma immunodeficiency
1 Novoseek disease relationship for PIKFYVE gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| carcinoma |
0 |
1 |
9839541 (1) |
Human Genome Epidemiology (HuGE) Navigator: PIKFYVE (1 document)
Export disorders for PIKFYVE gene to outside databases
|
Publications
for PIKFYVE gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PIKFYVE gene, integrated from 9 sources (see all 108):
(articles sorted by number of sources associating them with PIKFYVE) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve endomembrane localization. (PubMed id 11706043)1, 2, 9 Sbrissa D.... Shisheva A. (2002)
- ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PubMed id 18950639)1, 2, 9 Sbrissa D....Shisheva A. (2008)
- Core protein machinery for mammalian phosphatidylinositol 3,5- bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. (PubMed id 17556371)1, 2, 9 Sbrissa D....Shisheva A. (2007)
- Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. (PubMed id 15902656)1, 2 Li S.... Schorderet D.F. (2005)
- Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
- Phosphatidylinositol 5-phosphate biosynthesis is link ed to PIKfyve and is involved in osmotic response pathway in mammalian cells. (PubMed id 12270933)1, 3 Sbrissa D....Shisheva A. (2002)
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
- Regulation of the glutamate transporter EAAT2 by PIKf yve. (PubMed id 19910676)1, 9 Gehring E.M....Lang F. (2009)
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External Searches for PIKFYVE gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing PIKFYVE gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PIKFYVE gene
(According to HUGE)
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Specialized Databases showing PIKFYVE gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for PIKFYVE | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for PIKFYVE gene:
Search GeneIP for patents involving PIKFYVE
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for PIKFYVE gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PIKFYVE | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PIKFYVE | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PIKFYVE | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PIKFYVE | | OriGene 3'-UTR Clone for PIKFYVE | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PIKFYVE | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PIKFYVE | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for PIKFYVE | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for PIKFYVE | | OriGene Custom Protein Services for PIKFYVE | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PIKFYVE | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PIKFYVE | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIKFYVE | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PIKFYVE | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIKFYVE | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIKFYVE |
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| | | | Search Tocris compounds for PIKFYVE |
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 | | | PIKFYVE Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIKFYVE |
|  |  |  | | | | ThermoFisher Antibodies for PIKFYVE |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIKFYVE |
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