Gene
PI4KA
phosphatidylinositol 4-kinase alpha
- HGNC 8983↗(opens in a new tab)
- Ensembl gene ENSG00000241973↗(opens in a new tab)
- NCBI Gene 5297↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q11.21
- Coordinates
- Chromosome 22: 20,707,691–20,858,811 (GRCh38)
- Exons
- 55 exons across 151.1 kb
- Protein
- 2,102 amino acids
- Also known as
- PI4K-ALPHA, pi4K230
- Previous symbols
- PIK4CA
- MANE Select transcript
- ENST00000255882.11NM_058004.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads PI4KA yet. The test sequences your whole genome, so your data includes it all the same.
How PI4KA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.8 kb of the gene's 151.1 kb; 6,309 of those bases code for the protein.
How a genome test reads PI4KA
39
positions in PI4KA where ClinVar classes a change as pathogenic or likely pathogenic
12 of them (31%) fall in regions short reads find hard.
- Low mappability (10 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (12 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 151.1 kb of PI4KA, introns included, not only the 6.8 kb of exons.
Traits linked to PI4KA
The Human Phenotype Ontology lists these as features of the rare conditions PI4KA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Cervical spinal cord atrophy
- Delayed fine motor development
- Delayed motor skills
- Delayed speech and language development
- Global developmental delay
- Increased reflexes
- Intellectual disability
- Perisylvian polymicrogyria
Show 39 more traits
- Abnormality of neuronal migration
- Bilateral perisylvian polymicrogyria
- Abnormal gait
- Ataxia
- Babinski sign
- Cerebellar vermis hypoplasia
- Cognitive impairment
- Dystonia
- EEG with central focal spikes
- EEG with parietal focal spikes
- EEG with polyspike wave complexes
- Epilepsy
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Hoffmann sign
- Impaired vibratory sensation
- Intention tremor
- Lack of coordination of movement
- Language impairment
- More grooves in brain
- Perisylvian predominant thick cortex pachygyria
- Seizure affecting one half of brain
- Specific learning disability
- Toe walking
- Ventriculomegaly
- Cerebellar dysplasia
- Difficulty articulating speech
- EEG with frontal focal spikes
- Focal sensory seizure
- Head titubation
- Infantile spasms
- Oromotor apraxia
- Partial paralysis of legs
- CNS hypomyelination
- Degeneration of cerebellum
- Hyperintensity of cerebral white matter on MRI
- Hypoplasia of the pons
- Leukodystrophy
- Small cerebellum
- Thin corpus callosum
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PI4KA gene: phosphatidylinositol 4-kinase alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/pi4ka
Dante Labs. PI4KA gene: phosphatidylinositol 4-kinase alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pi4ka
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