PI4K2A

Chr 10q24.2

phosphatidylinositol 4-kinase type 2 alpha

Aliases:: PI4KII, DKFZP761G1923, PIK42A
MANE:: ENST00000370631.4

OMIM: 609763 ↗NCBI: 55361 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PI4K2A · Q9BTU6

v62025-08-01

Predicted Aligned Error matrix for PI4K2A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.3/ 100

Confident

479 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)17%
Low(50–70)10%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
0.69
neurodegenerative disease
0.43
hypertensive disorder
0.14
lung cancer
0.08
colon adenocarcinoma
0.07
lung carcinoma
0.07
Young adult-onset Parkinsonism
0.07
amyotrophic lateral sclerosis
0.06
Hereditary late-onset Parkinson disease
0.06
behavioral variant of frontotemporal dementia
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylinositol 4-kinase type 2-alpha

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 sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3)