Gene
PRKN
parkin RBR E3 ubiquitin protein ligase
- HGNC 8607↗(opens in a new tab)
- Ensembl gene ENSG00000185345↗(opens in a new tab)
- NCBI Gene 5071↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q26
- Coordinates
- Chromosome 6: 161,347,417–162,727,766 (GRCh38)
- Exons
- 12 exons across 1,380.4 kb
- Protein
- 465 amino acids
- Also known as
- PDJ, AR-JP, parkin
- Previous symbols
- PARK2
- MANE Select transcript
- ENST00000366898.6NM_004562.3
- 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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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.
- ClinGen rates the link definitive
- 3 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 PRKN 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 1,380.4 kb; 1,398 of those bases code for the protein.
How a genome test reads PRKN
32
positions in PRKN 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 1,380.4 kb of PRKN, introns included, not only the 4.2 kb of exons.
Genes linked to the same conditions
- ATP13A2ATPase cation transporting 13A2Shares 1 condition
- CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2Shares 1 condition
- DNAJC6DnaJ heat shock protein family (Hsp40) member C6Shares 1 condition
- FBXO7F-box protein 7Shares 1 condition
- GBA1glucosylceramidase beta 1Shares 1 condition
- LRRK2leucine rich repeat kinase 2Shares 1 condition
- MAPTmicrotubule associated protein tauShares 1 condition
- PARK7Parkinsonism associated deglycaseShares 1 condition
- PINK1PTEN induced kinase 1Shares 1 condition
- PLA2G6phospholipase A2 group VIShares 1 condition
- SNCAsynuclein alphaShares 1 condition
- SYNJ1synaptojanin 1Shares 1 condition
Traits linked to PRKN
The Human Phenotype Ontology lists these as features of the rare conditions PRKN can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Decreased muscle movement
- Increased reflexes
- Parkinsonism
- Pill-rolling tremor
- Slow movements
- Substantia nigra gliosis
- Tremor
Show 27 more traits
- Babinski sign
- Balance impairment
- Depression
- Disorder of involuntary muscle movements
- Focal dystonia
- Hallucinations
- Inability to coordinate movements when walking
- Lack of feeling, emotion, interest
- Loss of ability to walk
- Postural tremor
- Resting tremor
- Shuffled walk
- Abnormal autonomic nervous system physiology
- Abnormality of balance
- Anxiety
- Cognitive impairment
- Degeneration of cerebrum
- Dementia
- Difficulty staying or falling asleep
- Dystonia
- Panic attack
- Poor social interactions
- Short attention span
- Willis-Ekbom disease
- Agitation
- Frontal lobe dementia
- Impulsivity
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.). PRKN gene: parkin RBR E3 ubiquitin protein ligase. Retrieved 17 October 2026, from https://dantelabs.com/genes/prkn
Dante Labs. PRKN gene: parkin RBR E3 ubiquitin protein ligase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prkn
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