Gene Gene information from NCBI Gene database.
Entrez ID 55361
Gene name Phosphatidylinositol 4-kinase type 2 alpha
Gene symbol PI4K2A
Synonyms (NCBI Gene)
NEDMSBPI4KIIPIK42A
Chromosome 10
Chromosome location 10q24.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
533
miRTarBase ID miRNA Experiments Reference
MIRT021939 hsa-miR-128-3p Microarray 17612493
MIRT037358 hsa-miR-877-5p CLASH 23622248
MIRT655095 hsa-miR-9-5p HITS-CLIP 23824327
MIRT655094 hsa-miR-211-5p HITS-CLIP 23824327
MIRT655093 hsa-miR-204-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 12324459
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding NAS 11279162
GO:0004430 Function 1-phosphatidylinositol 4-kinase activity IBA
GO:0004430 Function 1-phosphatidylinositol 4-kinase activity IDA 11279162, 11923287, 12324459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609763 30031 ENSG00000155252
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BTU6
Protein name Phosphatidylinositol 4-kinase type 2-alpha (EC 2.7.1.67) (Phosphatidylinositol 4-kinase type II-alpha)
Protein function Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sort
PDB 4HND , 4HNE , 4PLA , 4YC4 , 5EUT , 5I0N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00454 PI3_PI4_kinase 133 431 Phosphatidylinositol 3- and 4-kinase Family
Tissue specificity 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:0000269|PubMed:11279162}.
Sequence
Sequence length 479
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities Pathogenic rs759390226, rs766055659 RCV003882761
RCV003882762
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colonic Neoplasms Associate 35634680
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 35880319
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 25502460
★☆☆☆☆
Found in Text Mining only
Hermanski Pudlak Syndrome Associate 23676666
★☆☆☆☆
Found in Text Mining only
Infantile Epileptic Dyskinetic Encephalopathy Associate 35880319
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 36757799
★☆☆☆☆
Found in Text Mining only
Lysosomal Storage Diseases Associate 35880319
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 25502460
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 35634680
★☆☆☆☆
Found in Text Mining only
Sarcopenia Associate 36573383
★☆☆☆☆
Found in Text Mining only