Gene
PLAA
phospholipase A2 activating protein
- HGNC 9043↗(opens in a new tab)
- Ensembl gene ENSG00000137055↗(opens in a new tab)
- NCBI Gene 9373↗(opens in a new tab)
Summary
- Cytogenetic location
- 9p21.2
- Coordinates
- Chromosome 9: 26,903,372–26,947,242 (GRCh38)
- Exons
- 14 exons across 43.9 kb
- Protein
- 795 amino acids
- Also known as
- PLAP, PLA2P, FLJ11281, FLJ12699, DOA1
- MANE Select transcript
- ENST00000397292.8NM_001031689.3
- 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 PLAA yet. The test sequences your whole genome, so your data includes it all the same.
How PLAA 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 43.9 kb; 2,388 of those bases code for the protein.
How a genome test reads PLAA
6
positions in PLAA 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 43.9 kb of PLAA, introns included, not only the 4.7 kb of exons.
Traits linked to PLAA
The Human Phenotype Ontology lists these as features of the rare conditions PLAA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal cortical gyration
- Abnormal pyramidal sign
- Abnormality of extrapyramidal motor function
- Absent speech development
- Cognitive impairment
- Delayed fine motor development
- Delayed motor skills
- Delayed speech and language development
Show 22 more traits
- Exaggerated startle response
- Global developmental delay
- Intellectual disability, severe
- Periventricular cysts
- Progressive leukoencephalopathy
- Wide cavum septum pellucidum
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Thin corpus callosum
- Underdevelopment of part of brain called corpus callosum
- Babinski sign
- Bulbar signs
- Cerebellar cortical atrophy
- Cerebral white matter atrophy
- Delayed CNS myelination
- Delayed myelination
- Dystonia
- Epilepsy
- Generalized-onset seizure
- Hypsarrhythmia
- Intellectual disability
- Leukoencephalopathy
- Ventriculomegaly
Abnormality of limbs
- Excessive sweating of palms and soles
- Edema of the dorsum of feet
- Extra little finger
- Extra toe attached near the little toe
- Finger joint hyperextensibility
- Increased muscle tone of arm or leg
- Long fingers
- Rocker bottom foot
Show 2 more traits
Abnormality of the musculoskeletal system
- Bulbar palsy
- Contractures of the large joints
- Hunched back
- Pigeon chest
- Spasticity and rigidity of muscles
- Low muscle tone
- Small joint hypermobility
- Progressive spastic quadriplegia
Show 1 more trait
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.). PLAA gene: phospholipase A2 activating protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/plaa
Dante Labs. PLAA gene: phospholipase A2 activating protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plaa
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