• Gene id: 55361

Gene Summary

• Gene Symbol: PI4K2A   Gene   UCSC   Ensembl
• Aliases: PI4KII, PIK42A
• Gene name: phosphatidylinositol 4-kinase type 2 alpha
• Alternate names: phosphatidylinositol 4-kinase type 2-alpha, phosphatidylinositol 4-kinase type II (PI4KII), phosphatidylinositol 4-kinase type II-alpha,
• Gene location: 10q24.2 (97640685: 97676433)     Exons: 9     NC_000010.11
• Gene summary(Entrez): Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential st
• OMIM: 609763

Protein Summary

• Protein general information: Q9BTU6  
  • Name: Phosphatidylinositol 4 kinase type 2 alpha (EC 2.7.1.67) (Phosphatidylinositol 4 kinase type II alpha)
  • Length: 479  
  • Mass: 54022
  • Tissue specificity: Widely expressed. Highest expression is observed in kidney, brain, heart, skeletal muscle, and placenta and lowest expression is observed in colon, thymus, and small intestine. {ECO
• Sequence:

  MDETSPLVSPERAQPPDYTFPSGSGAHFPQVPGGAVRVAAAAGSGPSPPGSPGHDRERQPLLDRARGAAAQGQTQ
  TVAAQAQALAAQAAAAAHAAQAHRERNEFPEDPEFEAVVRQAELAIERCIFPERIYQGSSGSYFVKDPQGRIIAV
  FKPKNEEPYGHLNPKWTKWLQKLCCPCCFGRDCLVLNQGYLSEAGASLVDQKLELNIVPRTKVVYLASETFNYSA
  IDRVKSRGKRLALEKVPKVGQRFNRIGLPPKVGSFQLFVEGYKDADYWLRRFEAEPLPENTNRQLLLQFERLVVL
  DYIIRNTDRGNDNWLIKYDCPMDSSSSRDTDWVVVKEPVIKVAAIDNGLAFPLKHPDSWRAYPFYWAWLPQAKVP
  FSQEIKDLILPKISDPNFVKDLEEDLYELFKKDPGFDRGQFHKQIAVMRGQILNLTQALKDNKSPLHLVQMPPVI
  VETARSHQRSSSESYTQSFQSRKPFFSWW

• Structural information:
  • Protein Domains: (133..43-)
    (/note="PI3K/PI4K"-)
  • Interpro: IPR039756  IPR000403  
  • PDB: 4HND 4HNE 4PLA 4YC4 5EUT 5I0N
  • PDBsum: 4HND 4HNE 4PLA 4YC4 5EUT 5I0N
  • STRING: ENSP00000359665
• Other Databases: GeneCards:  PI4K2A  Malacards:  PI4K2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0007032	endosome organization	IBA	biological process
GO:0004430	1-phosphatidylinositol 4-kinase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007030	Golgi organization	IBA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0046854	phosphatidylinositol phosphorylation	IDA	biological process
GO:0035651	AP-3 adaptor complex binding	IDA	molecular function
GO:0031083	BLOC-1 complex	IDA	colocalizes with
GO:0043005	neuron projection	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0044231	host cell presynaptic membrane	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0035838	growing cell tip	ISS	cellular component
GO:0005739	mitochondrion	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004430	1-phosphatidylinositol 4-kinase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004430	1-phosphatidylinositol 4-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0002561	basophil degranulation	IEA	biological process
GO:0044231	host cell presynaptic membrane	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0070382	exocytic vesicle	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0035838	growing cell tip	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004430	1-phosphatidylinositol 4-kinase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	IDA	biological process
GO:0004430	1-phosphatidylinositol 4-kinase activity	IDA	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0000287	magnesium ion binding	NAS	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray