Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
200576
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoinositide kinase, FYVE-type zinc finger containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIKFYVE
Synonyms (NCBI Gene) Gene synonyms aliases
CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CFD
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q34
Summary Summary of gene provided in NCBI Entrez Gene.
Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918336 A>G Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs121918337 C>T Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs387907335 AGTA>- Pathogenic Terminator codon variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs780579562 C>G Likely-pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
rs869312464 ->A Pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050096 hsa-miR-26a-5p CLASH 23622248
MIRT048546 hsa-miR-100-5p CLASH 23622248
MIRT043808 hsa-miR-328-3p CLASH 23622248
MIRT042812 hsa-miR-324-3p CLASH 23622248
MIRT037422 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000285 Function 1-phosphatidylinositol-3-phosphate 5-kinase activity IDA 22621786
GO:0000285 Function 1-phosphatidylinositol-3-phosphate 5-kinase activity ISS
GO:0004674 Function Protein serine/threonine kinase activity ISS
GO:0005515 Function Protein binding IPI 15046600, 17556371, 17909029, 19037259, 25416956, 29892012
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609414 23785 ENSG00000115020
Protein
UniProt ID Q9Y2I7
Protein name 1-phosphatidylinositol 3-phosphate 5-kinase (Phosphatidylinositol 3-phosphate 5-kinase) (EC 2.7.1.150) (FYVE finger-containing phosphoinositide kinase) (PIKfyve) (Phosphatidylinositol 3-phosphate 5-kinase type III) (PIPkin-III) (Type III PIP kinase) (Seri
Protein function Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress- or hormone-induced signaling and cell cy
PDB 7K2V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01363 FYVE 153 219 FYVE zinc finger Domain
PF00610 DEP 368 438 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF00118 Cpn60_TCP1 591 863 TCP-1/cpn60 chaperonin family Family
PF01504 PIP5K 1852 2030 Phosphatidylinositol-4-phosphate 5-Kinase Family
PF01504 PIP5K 2023 2083 Phosphatidylinositol-4-phosphate 5-Kinase Family
Sequence
MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERA
EGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSSALDTRRKAEPTFGGH
DPRTAVQLRSLSTVLKRLKEIMEGKSQDSDLKQYWMPDSQCKECYDCSEKFTTFRRRHHC
RLCGQIFCSRCCNQEIPGKFMGYTGDLRACTYCRKIALS
YAHSTDSNSIGEDLNALSDSA
CSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSP
ARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWK
KICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLD
CVSHHDQLFRDEYALYRP
LQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQI
AEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVNFHIKKPSKYPHVPPH
PADQKEYLISDTGGQQLSISDAFIKESLFNRRVEEKSKELPFTPLGWHHNNLELLREENG
EKQAMERLLSANHNHMMALLQQLLHSDSLSSSWRDIIVSLVCQVVQTVRPDVKNQDDDMD
IRQFVHIKKIPGGKKFDSVVVNGFVCTKNIAHKKMSSCIKNPKILLLKCSIEYLYREETK
FTCIDPIVLQEREFLKNYVQRIVDVRPTLVLVEKTVSRIAQDMLLEHGITLVINVKSQVL
ERISRMTQGDLVMSMDQLLTKPHLGTCHKFYMQIFQLPNEQTKTLMFFEGCPQHLGCTIK
LRGGSDYELARVKEILIFMICVA
YHSQLEISFLMDEFAMPPTLMQNPSFHSLIEGRGHEG
AVQEQYGGGSIPWDPDIPPESLPCDDSSLLELRIVFEKGEQENKNLPQAVASVKHQEHST
TACPAGLPCAFFAPVPESLLPLPVDDQQDALGSEQPETLQQTVVLQDPKSQIRAFRDPLQ
DDTGLYVTEEVTSSEDKRKTYSLAFKQELKDVILCISPVITFREPFLLTEKGMRCSTRDY
FAEQVYWSPLLNKEFKEMENRRKKQLLRDLSGLQGMNGSIQAKSIQVLPSHELVSTRIAE
HLGDSQSLGRMLADYRARGGRIQPKNSDPFAHSKDASSTSSGQSGSKNEGDEERGLILSD
AVWSTKVDCLNPINHQRLCVLFSSSSAQSSNAPSACVSPWIVTMEFYGKNDLTLGIFLER
YCFRPSYQCPSMFCDTPMVHHIRRFVHGQGCVQIILKELDSPVPGYQHTILTYSWCRICK
QVTPVVALSNESWSMSFAKYLELRFYGHQYTRRANAEPCGHSIHHDYHQYFSYNQMVASF
SYSPIRLLEVCVPLPKIFIKRQAPLKVSLLQDLKDFFQKVSQVYVAIDERLASLKTDTFS
KTREEKMEDIFAQKEMEEGEFKNWIEKMQARLMSSSVDTPQQLQSVFESLIAKKQSLCEV
LQAWNNRLQDLFQQEKGRKRPSVPPSPGRLRQGEESKISAMDASPRNISPGLQNGEKEDR
FLTTLSSQSSTSSTHLQLPTPPEVMSEQSVGGPPELDTASSSEDVFDGHLLGSTDSQVKE
KSTMKAIFANLLPGNSYNPIPFPFDPDKHYLMYEHERVPIAVCEKEPSSIIAFALSCKEY
RNALEELSKATQWNSAEEGLPTNSTSDSRPKSSSPIRLPEMSGGQTNRTTETEPQPTKKA
SGMLSFFRGTAGKSPDLSSQKRETLRGADSAYYQVGQTGKEGTENQGVEPQDEVDGGDTQ
KKQLINPHVELQFSDANAKFYCRLYYAGEFHKMREVILDSSEEDFIRSLSHSSPWQARGG
KSGAAFYATEDDRFILKQMPRLEVQSFLDFAPHYFNYITNAVQQKRPTALAKILGVYRIG
YKNSQNNTEKKLDLLVMENLFYGRKMAQVFDLKGSLRNRNVKTDTGKESCDVVLLDENLL
KMVRDNPLYIRSHSKAVLRTSIHSDSHFLSSHLIIDYSLLVG
RDDTSNELVVGIIDYIRT
FTWDKKLEMVVKSTGILGGQGKMPTVVSPELYRTRFCEAMDKY
FLMVPDHWTGLGLNC
Sequence length 2098
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phagosome
Regulation of actin cytoskeleton
  Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Fleck corneal dystrophy Fleck corneal dystrophy rs121918336, rs121918337, rs387907335, rs869312464, rs780579562 23288988, 15902656, 26396486, 22065932
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 17909029
Carcinoma Transitional Cell Associate 17909029
Cataract Associate 37511188
Corneal dystrophy epithelial basement membrane Associate 19710953
Corneal Dystrophy Fleck Associate 15902656, 22065932, 23288988, 26396486
Demyelinating Diseases Associate 26293489
Diabetes Gestational Inhibit 26302821
Drug Related Side Effects and Adverse Reactions Associate 28104689
Neoplasms Associate 34738088, 36803256
Neurodegenerative Diseases Associate 26216398