Gene
PARK7
Parkinsonism associated deglycase
- HGNC 16369(opens in a new tab)
- Ensembl gene ENSG00000116288(opens in a new tab)
- NCBI Gene 11315(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.23
- Coordinates
- Chromosome 1: 7,961,711–7,985,505 (GRCh38)
- Exons
- 7 exons across 23.8 kb
- Protein
- 189 amino acids
- Also known as
- DJ-1, DJ1, GATD2
- MANE Select transcript
- ENST00000338639.10NM_007262.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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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 PARK7 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 1.1 kb of the gene's 23.8 kb; 570 of those bases code for the protein.
How a genome test reads PARK7
9
positions in PARK7 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 23.8 kb of PARK7, introns included, not only the 1.1 kb of exons.
Traits linked to PARK7
The Human Phenotype Ontology lists these as features of the rare conditions PARK7 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Anxiety
- Parkinsonism with favorable response to dopaminergic medication
- Slow movements
- Balance impairment
- Brisk reflexes
- Depression
- Disorder of involuntary muscle movements
- Hallucinations
Show 20 more traits
- Lack of feeling, emotion, interest
- Leg dystonia
- Postural tremor
- Tremor
- Abnormal autonomic nervous system physiology
- Abnormality of balance
- Cognitive impairment
- Dementia
- Difficulty staying or falling asleep
- Dystonia
- Increased reflexes
- Panic attack
- Poor social interactions
- Psychotic episodes
- Resting tremor
- 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.). PARK7 gene: Parkinsonism associated deglycase. Retrieved 16 October 2026, from https://dantelabs.com/genes/park7
Dante Labs. PARK7 gene: Parkinsonism associated deglycase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/park7
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