Gene
PPP3CA
protein phosphatase 3 catalytic subunit alpha
- HGNC 9314↗(opens in a new tab)
- Ensembl gene ENSG00000138814↗(opens in a new tab)
- NCBI Gene 5530↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q24
- Coordinates
- Chromosome 4: 101,023,418–101,347,526 (GRCh38)
- Exons
- 14 exons across 324.1 kb
- Protein
- 521 amino acids
- Also known as
- CNA1, PPP2B
- Previous symbols
- CALN, CALNA
- MANE Select transcript
- ENST00000394854.8NM_000944.5
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How PPP3CA 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 4.7 kb of the gene's 324.1 kb; 1,566 of those bases code for the protein.
How a genome test reads PPP3CA
25
positions in PPP3CA 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 324.1 kb of PPP3CA, introns included, not only the 4.7 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to PPP3CA
The Human Phenotype Ontology lists these as features of the rare conditions PPP3CA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Intellectual disability
- Encephalopathy
- Abnormality of coordination
- Absent speech development
- Decreased reflex response
- Delayed speech and language development
Show 32 more traits
- EEG with multifocal slow activity
- Epileptic encephalopathy
- Epileptic spasm
- Generalized-onset seizure
- Hypsarrhythmia
- Loss of developmental milestones
- Multifocal epileptiform discharges
- Tonic seizure
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Atypical absence seizure
- Autism
- Behavioral abnormality
- Brain degeneration
- Degeneration of cerebrum
- Delayed CNS myelination
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Focal motor seizure
- Grand mal seizures
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- Myoclonic seizure
- Reduced cerebral white matter volume
- Repeated seizures without recovery between them
- Tremor
- Unsteady walk
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). PPP3CA gene: protein phosphatase 3 catalytic subunit alpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/ppp3ca
Dante Labs. PPP3CA gene: protein phosphatase 3 catalytic subunit alpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ppp3ca
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