Gene
PI4K2A
phosphatidylinositol 4-kinase type 2 alpha
- HGNC 30031(opens in a new tab)
- Ensembl gene ENSG00000155252(opens in a new tab)
- NCBI Gene 55361(opens in a new tab)
Summary
- Cytogenetic location
- 10q24.2
- Coordinates
- Chromosome 10: 97,640,671–97,676,434 (GRCh38)
- Exons
- 9 exons across 35.8 kb
- Protein
- 479 amino acids
- Also known as
- PI4KII, DKFZP761G1923, PIK42A
- MANE Select transcript
- ENST00000370631.4NM_018425.4
- 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 PI4K2A yet. The test sequences your whole genome, so your data includes it all the same.
How PI4K2A 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 4.2 kb of the gene's 35.8 kb; 1,440 of those bases code for the protein.
How a genome test reads PI4K2A
1
position in PI4K2A where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 35.8 kb of PI4K2A, introns included, not only the 4.2 kb of exons.
Traits linked to PI4K2A
The Human Phenotype Ontology lists these as features of the rare conditions PI4K2A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Akathisia
- Arm dystonia
- Brisk reflexes
- Difficulty falling asleep
- Generalized-onset seizure
- Global developmental delay
- Hypoplasia of the pons
Show 15 more traits
- Inability to walk
- Irritability
- Motor delay
- Orofacial dyskinesia
- Small brainstem
- Underdevelopment of part of brain called corpus callosum
- Damage to nerves that sense feeling
- Hypoplastic anterior commissure
- Jerking
- Reduced cerebral white matter volume
- Ventriculomegaly
- Epileptic spasm
- Hypsarrhythmia
- Myoclonic seizure
- Tonic seizure
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.). PI4K2A gene: phosphatidylinositol 4-kinase type 2 alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/pi4k2a
Dante Labs. PI4K2A gene: phosphatidylinositol 4-kinase type 2 alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pi4k2a
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