• Gene id: 79837

Gene Summary

• Gene Symbol: PIP4K2C   Gene   UCSC   Ensembl
• Aliases: PIP5K2C
• Gene name: phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
• Alternate names: phosphatidylinositol 5-phosphate 4-kinase type-2 gamma, PI(5)P 4-kinase type II gamma, PIP4KII-gamma, phosphatidylinositol 4-phosphate 5-kinase, phosphatidylinositol 5-phosphate 4-kinase type II gamma, phosphatidylinositol-4-phosphate 5-kinase, type II, gamma,
• Gene location: 12q13.3 (57591187: 57603417)     Exons: 12     NC_000012.12
• OMIM: 617104

Protein Summary

• Protein general information: Q8TBX8  
  • Name: Phosphatidylinositol 5 phosphate 4 kinase type 2 gamma (EC 2.7.1.149) (Phosphatidylinositol 5 phosphate 4 kinase type II gamma) (PI(5)P 4 kinase type II gamma) (PIP4KII gamma)
  • Length: 421  
  • Mass: 47300
• Sequence:

  MASSSVPPATVSAATAGPGPGFGFASKTKKKHFVQQKVKVFRAADPLVGVFLWGVAHSINELSQVPPPVMLLPDD
  FKASSKIKVNNHLFHRENLPSHFKFKEYCPQVFRNLRDRFGIDDQDYLVSLTRNPPSESEGSDGRFLISYDRTLV
  IKEVSSEDIADMHSNLSNYHQYIVKCHGNTLLPQFLGMYRVSVDNEDSYMLVMRNMFSHRLPVHRKYDLKGSLVS
  REASDKEKVKELPTLKDMDFLNKNQKVYIGEEEKKIFLEKLKRDVEFLVQLKIMDYSLLLGIHDIIRGSEPEEEA
  PVREDESEVDGDCSLTGPPALVGSYGTSPEGIGGYIHSHRPLGPGEFESFIDVYAIRSAEGAPQKEVYFMGLIDI
  LTQYDAKKKAAHAAKTVKHGAGAEISTVHPEQYAKRFLDFITNIFA

• Structural information:
  • Protein Domains: (43..42-)
    (/note="PIPK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00781"-)
  • Interpro: IPR023610  IPR027483  IPR002498  IPR027484  
  • Prosite: PS51455
  • PDB: 2GK9
  • PDBsum: 2GK9
  • STRING: ENSP00000347032
• Other Databases: GeneCards:  PIP4K2C  Malacards:  PIP4K2C

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:0005737	cytoplasm	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016309	1-phosphatidylinositol-5-phosphate 4-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

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
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray