PI4K2A
Phosphatidylinositol 4-kinase type 2-alpha
Also known as: DKFZP761G1923, P4K2A_HUMAN, PI4KII, PIK42A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BTU6
- Gene
- PI4K2A
- Ensembl
- ENSG00000155252
- Chromosome
- 10
- Canonical length
- 479 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
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 step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
479 residues, UniProt reviewed canonical sequence.
>Q9BTU6|PI4K2A
1 MDETSPLVSP ERAQPPDYTF PSGSGAHFPQ VPGGAVRVAA AAGSGPSPPG SPGHDRERQP
61 LLDRARGAAA QGQTQTVAAQ AQALAAQAAA AAHAAQAHRE RNEFPEDPEF EAVVRQAELA
121 IERCIFPERI YQGSSGSYFV KDPQGRIIAV FKPKNEEPYG HLNPKWTKWL QKLCCPCCFG
181 RDCLVLNQGY LSEAGASLVD QKLELNIVPR TKVVYLASET FNYSAIDRVK SRGKRLALEK
241 VPKVGQRFNR IGLPPKVGSF QLFVEGYKDA DYWLRRFEAE PLPENTNRQL LLQFERLVVL
301 DYIIRNTDRG NDNWLIKYDC PMDSSSSRDT DWVVVKEPVI KVAAIDNGLA FPLKHPDSWR
361 AYPFYWAWLP QAKVPFSQEI KDLILPKISD PNFVKDLEED LYELFKKDPG FDRGQFHKQI
421 AVMRGQILNL TQALKDNKSP LHLVQMPPVI VETARSHQRS SSESYTQSFQ SRKPFFSWWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PI4K2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 25 nTPM
- bone marrow: 23 nTPM
- cerebral cortex: 20 nTPM
- esophagus: 20 nTPM
- choroid plexus: 17 nTPM
- placenta: 17 nTPM
Single-cell type
- esophageal apical cells: 102 nCPM
- hofbauer cells: 57 nCPM
- ocular epithelial cells: 33 nCPM
- epicardial cells: 32 nCPM
- syncytiotrophoblasts: 31 nCPM
- microglia: 28 nCPM
Immune cell
- memory B-cell: 1.4 nTPM
- gdT-cell: 1.3 nTPM
- myeloid DC: 1.3 nTPM
- classical monocyte: 1.2 nTPM
- T-reg: 1.2 nTPM
- memory CD8 T-cell: 1.1 nTPM
Brain region
- pons: 41 nTPM
- medulla oblongata: 36 nTPM
- midbrain: 35 nTPM
- cerebral cortex: 33 nTPM
- hypothalamus: 32 nTPM
- thalamus: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PI4K2A.
Disease | AllUniProt
Conditions PI4K2A is implicated in, by any mechanism.
- Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB) MIM:620732
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 53 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.4
- gnomAD pLI
- 0.8
- gnomAD missense Z
- 2.89
- DepMap mean gene effect
- -0.19
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endosome organization
- Golgi organization
- phosphatidylinositol biosynthetic process
- phosphatidylinositol phosphate biosynthetic process
Molecular functions
- 1-phosphatidylinositol 4-kinase activity
- AP-3 adaptor complex binding
- ATP binding
- magnesium ion binding
Cellular components
- cytoplasmic vesicle
- cytosol
- dendrite
- early endosome membrane
- endosome
- endosome membrane
- glutamatergic synapse
- Golgi membrane
- lysosomal membrane
- membrane
- membrane raft
- mitochondrion
- neuron projection
- neuronal cell body
- perikaryon
- plasma membrane
- presynaptic active zone
- presynaptic membrane
- trans-Golgi network
- growing cell tip
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PI4K2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PI4K2A as an antibody target. Whether an autoantibody or antibody against PI4K2A could matter depends on whether native PI4K2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PI4K2A is annotated at the cell surface, where native PI4K2A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PI4K2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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