Gene
PLA2G6
phospholipase A2 group VI
- HGNC 9039(opens in a new tab)
- Ensembl gene ENSG00000184381(opens in a new tab)
- NCBI Gene 8398(opens in a new tab)
Summary
- Cytogenetic location
- 22q13.1
- Coordinates
- Chromosome 22: 38,111,495–38,181,830 (GRCh38)
- Exons
- 17 exons across 70.3 kb
- Protein
- 806 amino acids
- Also known as
- iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2
- MANE Select transcript
- ENST00000332509.8NM_003560.4
- 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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Get my Genome TestCurated reports relevant to this gene
Neurodegeneration with Brain Iron Accumulation (NBIA)
- Neurodegeneration with Brain Iron Accumulation
A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.
Parkinson Disease
A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
LRRK2 kinase inhibitor trials, substrate reduction therapy for GBA variants, α-synuclein-targeted approaches, dopaminergic medications, levodopa
How PLA2G6 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 3.3 kb of the gene's 70.3 kb; 2,421 of those bases code for the protein.
How a genome test reads PLA2G6
168
positions in PLA2G6 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 70.3 kb of PLA2G6, introns included, not only the 3.3 kb of exons.
Traits linked to PLA2G6
The Human Phenotype Ontology lists these as features of the rare conditions PLA2G6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of cerebellum
- Degeneration of cerebrum
- Disorder of involuntary muscle movements
- Dystonia
- Gliosis
- Iron accumulation in brain
- Mental deterioration
- Parkinsonism
Show 71 more traits
- Slow movements
- Tremor
- Decreased nerve conduction velocity
- Loss of developmental milestones
- Psychomotor deterioration
- Abnormal cerebral white matter morphology
- Abnormal pyramidal sign
- Abnormality of peripheral nerve conduction
- Aggressive behavior
- Ataxia
- Axial dystonia
- Balance impairment
- Brisk reflexes
- Bulbar signs
- Cerebellar gliosis
- Clumsiness
- Delayed speech and language development
- Depression
- Difficulty articulating speech
- Diffuse axonal swelling
- Eye of the tiger anomaly of globus pallidus
- Eyelid myoclonus
- Focal dystonia
- Frontotemporal cerebral atrophy
- Frontotemporal dementia
- Generalized brain degeneration
- Generalized cerebral degeneration/underdevelopment
- Hand tremor
- Increased reflexes
- Loss of ability to walk
- Nerve damage causing decreased feeling and movement
- Neurofibrillary tangles
- Parkinsonism with favorable response to dopaminergic medication
- Peripheral axonal neuropathy
- Peripheral neuropathy
- Personality changes
- Pill-rolling tremor
- Poor social interactions
- Progressive extrapyramidal movement disorder
- Reading disability
- Resting tremor
- Unsteady walk
- Upper limb postural tremor
- Weakness of one side of body
- Abnormal autonomic nervous system physiology
- Abnormal gait
- Autism spectrum disorder
- Behavioral abnormality
- Can't control feelings
- Delusions
- Epilepsy
- Global developmental delay
- Impulsivity
- Jerking
- More active than typical
- Paranoia
- Short attention span
- Choking episodes
- Vegetative state
- Abnormal pyramidal tract morphology
- Absent reflexes
- Babinski sign
- Chorea
- Difficulty performing quick and alternating movements
- Inability to coordinate movements when walking
- Intellectual disability
- Intention tremor
- Lack of coordination of movement
- Lewy bodies
- Loss of brain cells
- Ongoing loss of nerve cells
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.). PLA2G6 gene: phospholipase A2 group VI. Retrieved 16 October 2026, from https://dantelabs.com/genes/pla2g6
Dante Labs. PLA2G6 gene: phospholipase A2 group VI [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pla2g6
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