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50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PARK7
Parkinsonism associated deglycase
Chromosome 1 Β· 1p36.23
NCBI Gene: 11315Ensembl: ENSG00000116288.14HGNC: HGNC:16369UniProt: Q99497
570PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneProteaseTumor Suppressor
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glyoxal metabolic processdouble-stranded DNA bindingsingle-stranded DNA bindingprotein deglycase activityYoung adult-onset ParkinsonismParkinson diseaseulcerative colitisyoung-onset Parkinson disease
✦AI Summary

PARK7 encodes DJ-1, a multifunctional protein that serves as a critical neuroprotective factor against oxidative stress and cellular damage 1. The protein functions as an oxidative stress sensor and plays essential roles in mitochondrial homeostasis, regulation of apoptosis, and chaperone-mediated autophagy 1. DJ-1 is positioned downstream of PINK1 and parkin in mitophagy pathways, where it is required for recruitment of the autophagy receptor optineurin to depolarized mitochondria 2. Loss-of-function mutations in PARK7 cause autosomal recessive early-onset Parkinson's disease, accounting for approximately 1% of all recessively inherited cases 13. Beyond its role in neurodegeneration, DJ-1 regulates peripheral neuronal excitability and controls painful neuropathy through TRPA1 signaling in primary sensory neurons 4. The protein also functions in microglia, where it modulates neuroinflammatory responses and immune surveillance 5. Clinically, oxidized DJ-1 has potential as a biomarker for Parkinson's disease, and DJ-1-enhancing compounds represent promising therapeutic targets for dampening oxidative stress and neuroinflammation 5. The protein's protective functions extend beyond the nervous system, as evidenced by its tumor-suppressive effects in breast cancer through modulation of the PI3K/Akt pathway 6.

Sources cited
1
DJ-1 functions as antioxidant and oxidative stress sensor in neuroprotective mechanisms, involved in mitochondrial homeostasis and regulation of apoptosis
PMID: 38391909
2
DJ-1 is essential for PINK1/parkin-mediated mitophagy and required for optineurin recruitment to depolarized mitochondria
PMID: 36039535
3
PARK7 mutations cause autosomal recessive early-onset Parkinson's disease
PMID: 31272925
4
DJ-1 controls peripheral neuronal excitability and painful neuropathy via TRPA1 signaling
PMID: 39486088
5
DJ-1 functions in microglia immune surveillance and has therapeutic potential as oxidized DJ-1 biomarker
PMID: 37072827
6
PARK7 exhibits tumor-suppressive effects in breast cancer through PI3K/Akt pathway modulation
PMID: 41219819
Disease Associationsβ“˜21
Young adult-onset ParkinsonismOpen Targets
0.73Strong
Parkinson diseaseOpen Targets
0.71Strong
ulcerative colitisOpen Targets
0.47Moderate
young-onset Parkinson diseaseOpen Targets
0.44Moderate
inflammatory bowel diseaseOpen Targets
0.43Moderate
Crohn's diseaseOpen Targets
0.40Moderate
peritonsillar abscessOpen Targets
0.35Weak
sclerosing cholangitisOpen Targets
0.35Weak
amyotrophic lateral sclerosis-parkinsonism-dementia complexOpen Targets
0.34Weak
psoriasisOpen Targets
0.34Weak
ankylosing spondylitisOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.24Weak
genetic disorderOpen Targets
0.18Weak
Hereditary late-onset Parkinson diseaseOpen Targets
0.12Weak
motor neuron diseaseOpen Targets
0.12Weak
juvenile-onset Parkinson diseaseOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
late-onset Parkinson diseaseOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
Parkinson disease 7UniProt
Pathogenic Variants17
NM_007262.5(PARK7):c.105dup (p.Ala36fs)Pathogenic
Autosomal recessive early-onset Parkinson disease 7|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 36
NM_007262.5(PARK7):c.471_473del (p.Pro158del)Likely pathogenic
not provided|Autosomal recessive early-onset Parkinson disease 7
β˜…β˜…β˜†β˜†2025β†’ Residue 158
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)Pathogenic
not provided|Autosomal recessive early-onset Parkinson disease 7
β˜…β˜…β˜†β˜†2024β†’ Residue 64
NM_007262.5(PARK7):c.192+1G>TLikely pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜…β˜†β˜†β˜†2024
NC_000001.11:g.(?_7969325)_(7969424_?)delPathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜…β˜†β˜†β˜†2023
NM_007262.5(PARK7):c.322G>A (p.Gly108Ser)Pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜…β˜†β˜†β˜†2022β†’ Residue 108
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)Likely pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜…β˜†β˜†β˜†2022β†’ Residue 101
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)Pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜…β˜†β˜†β˜†2021β†’ Residue 28
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)Likely pathogenic
Young-onset Parkinson disease
β˜…β˜†β˜†β˜†2021β†’ Residue 154
NM_007262.5(PARK7):c.133C>T (p.Gln45Ter)Pathogenic
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
β˜…β˜†β˜†β˜†2020β†’ Residue 45
NM_007262.5(PARK7):c.90+1dupLikely pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜…β˜†β˜†β˜†2019
NM_007262.5(PARK7):c.189dup (p.Glu64fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 64
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)Likely pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜†β˜†β˜†β˜†2021β†’ Residue 28
NM_007262.5(PARK7):c.78G>A (p.Met26Ile)Pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜†β˜†β˜†β˜†2012β†’ Residue 26
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)Pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜†β˜†β˜†β˜†2012β†’ Residue 166
NM_007262.5(PARK7):c.115G>T (p.Ala39Ser)Pathogenic
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
β˜†β˜†β˜†β˜†2006β†’ Residue 39
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)Pathogenic
Autosomal recessive early-onset Parkinson disease 7
β˜†β˜†β˜†β˜†2004β†’ Residue 64
View on ClinVar β†—
Related Genes
HSPA8Protein interaction100%HSP90AA1Protein interaction100%HSPA4Protein interaction100%SUMO1Protein interaction100%VDAC1Protein interaction100%ITPR3Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Liver
76%
Ovary
54%
Lung
48%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
PARK7HSPA8HSP90AA1HSPA4SUMO1VDAC1ITPR3
PROTEIN STRUCTURE
Preparing viewer…
PDB2RK3 Β· 1.05 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.42–1.02]
RankingsWhere PARK7 stands among ~20K protein-coding genes
  • #420of 20,598
    Most Researched570 Β· top 5%
  • #2,306of 5,498
    Most Pathogenic Variants17
  • #10,098of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedPARK7
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Pathogenesis of DJ-1/PARK7-Mediated Parkinson's Disease.
PMID: 38391909
Cells Β· 2024
1.00
2
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
PMID: 31272925
Parkinsonism Relat Disord Β· 2019
0.90
3
N-homocysteinylation of DJ-1 promotes neurodegeneration in Parkinson's disease.
PMID: 38380563
Aging Cell Β· 2024
0.88
4
Recessive Parkinson's disease.
PMID: 16615060
Mov Disord Β· 2006
0.86
5
Genetics of parkinsonism.
PMID: 18267242
Parkinsonism Relat Disord Β· 2007
0.82