• Gene id: 5305

Gene Summary

• Gene Symbol: PIP4K2A   Gene   UCSC   Ensembl
• Aliases: PI5P4KA, PIP5K2A, PIP5KII-alpha, PIP5KIIA, PIPK
• Gene name: phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
• Alternate names: phosphatidylinositol 5-phosphate 4-kinase type-2 alpha, 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha, 1-phosphatidylinositol-4-phosphate kinase, 1-phosphatidylinositol-4-phosphate-5-kinase, PI(5)P 4-kinase type II alpha, PIP4KII-alpha, PIP5KIII, PIP5KIIal,
• Gene location: 10p12.2 (22714577: 22534836)     Exons: 27     NC_000010.11
• Gene summary(Entrez): Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encode
• OMIM: 603140

Protein Summary

• Protein general information: P48426  
  • Name: Phosphatidylinositol 5 phosphate 4 kinase type 2 alpha (EC 2.7.1.149) (1 phosphatidylinositol 5 phosphate 4 kinase 2 alpha) (Diphosphoinositide kinase 2 alpha) (PIP5KIII) (Phosphatidylinositol 5 phosphate 4 kinase type II alpha) (PI(5)P 4 kinase type II a
  • Length: 406  
  • Mass: 46225
  • Tissue specificity: Expressed ubiquitously, with high levels in the brain. Present in most tissues, except notably skeletal muscle and small intestine. {ECO
• Sequence:

  MATPGNLGSSVLASKTKTKKKHFVAQKVKLFRASDPLLSVLMWGVNHSINELSHVQIPVMLMPDDFKAYSKIKVD
  NHLFNKENMPSHFKFKEYCPMVFRNLRERFGIDDQDFQNSLTRSAPLPNDSQARSGARFHTSYDKRYIIKTITSE
  DVAEMHNILKKYHQYIVECHGITLLPQFLGMYRLNVDGVEIYVIVTRNVFSHRLSVYRKYDLKGSTVAREASDKE
  KAKELPTLKDNDFINEGQKIYIDDNNKKVFLEKLKKDVEFLAQLKLMDYSLLVGIHDVERAEQEEVECEENDGEE
  EGESDGTHPVGTPPDSPGNTLNSSPPLAPGEFDPNIDVYGIKCHENSPRKEVYFMAIIDILTHYDAKKKAAHAAK
  TVKHGAGAEISTVNPEQYSKRFLDFIGHILT

• Structural information:
  • Protein Domains: (33..40-)
    (/note="PIPK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00781"-)
  • Interpro: IPR023610  IPR027483  IPR002498  IPR027484  
  • Prosite: PS51455
  • PDB: 2YBX
  • PDBsum: 2YBX
  • STRING: ENSP00000365757
• Other Databases: GeneCards:  PIP4K2A  Malacards:  PIP4K2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000786	positive regulation of autophagosome assembly	IMP	biological process
GO:0010506	regulation of autophagy	IMP	biological process
GO:0005776	autophagosome	IMP	cellular component
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0016307	phosphatidylinositol phosphate kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016309	1-phosphatidylinositol-5-phosphate 4-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006644	phospholipid metabolic process	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035855	megakaryocyte development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04810	Regulation of actin cytoskeleton
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881