Gene
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha
- HGNC 9302↗(opens in a new tab)
- Ensembl gene ENSG00000105568↗(opens in a new tab)
- NCBI Gene 5518↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.41
- Coordinates
- Chromosome 19: 52,190,052–52,229,518 (GRCh38)
- Exons
- 15 exons across 39.5 kb
- Protein
- 589 amino acids
- Also known as
- PR65A, PP2A-Aalpha, PP2AA
- MANE Select transcript
- ENST00000322088.11NM_014225.6
- 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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How PPP2R1A 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 5.4 kb of the gene's 39.5 kb; 1,770 of those bases code for the protein.
How a genome test reads PPP2R1A
18
positions in PPP2R1A 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 39.5 kb of PPP2R1A, introns included, not only the 5.4 kb of exons.
Traits linked to PPP2R1A
The Human Phenotype Ontology lists these as features of the rare conditions PPP2R1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Asymmetry of the posterior head
- Decreased facial muscle tone
- Facial asymmetry
- Nasal tip, upturned
- Open mouth
- Prominent metopic ridge
- Upper eyelid entropion
Show 2 more traits
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.). PPP2R1A gene: protein phosphatase 2 scaffold subunit Aalpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/ppp2r1a
Dante Labs. PPP2R1A gene: protein phosphatase 2 scaffold subunit Aalpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ppp2r1a
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