PRKN Chromosome 6
Parkin RBR E3 ubiquitin protein ligase
Upload your DNA to see your personal genotypes for variants in PRKN.
What This Gene Does
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|RBR E3 ubiquitin ligases"
Locus Type
gene with protein product
Location
6q26
Ensembl
ENSG00000185345
Associated Conditions (18)
Young-onset Parkinson disease
Autosomal recessive juvenile Parkinson disease 2
Ovarian neoplasm
Uterine carcinosarcoma
Parkinson disease 12
Lung cancer
Ovarian cancer
Ovarian serous cystadenocarcinoma
PRKN-related disorder
Inborn genetic diseases
Autism spectrum disorder
Lung adenocarcinoma
Leprosy
susceptibility to
2
Lung carcinoma
See cases
Autosomal dominant Parkinson disease 1
Key Variants
RS1226997153
Conflicting classifications of pathogenicity
Young-onset Parkinson disease, Young-onset Parkinson disease
Health Risk
RS137853054
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2, Ovarian neoplasm
Health Risk
RS140590552
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS141366047
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS143477190
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS146288080
Conflicting classifications of pathogenicity
Uterine carcinosarcoma, Uterine carcinosarcoma
Health Risk
RS147121590
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS148990138
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS149953814
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Parkinson disease 12, Lung cancer
Health Risk
RS150562946
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS182893847
Conflicting classifications of pathogenicity
Health Risk
RS199657839
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1226997153 | Health Risk | Conflicting classifications of pathogenicity | Young-onset Parkinson disease, Young-onset Parkinson disease |
| RS137853054 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2, Ovarian neoplasm |
| RS140590552 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS141366047 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS143477190 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS146288080 | Health Risk | Conflicting classifications of pathogenicity | Uterine carcinosarcoma, Uterine carcinosarcoma |
| RS147121590 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS148990138 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS149953814 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Parkinson disease 12, Lung cancer |
| RS150562946 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS182893847 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199657839 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS200157467 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS201039350 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Ovarian serous cystadenocarcinoma, Autosomal recessive juvenile Parkinson disease 2 |
| RS536687809 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS539917500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS55830907 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, PRKN-related disorder, Autosomal recessive juvenile Parkinson disease 2 |
| RS56092260 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS766121894 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS769477007 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS771259513 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771437898 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS777074432 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778612938 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137853056 | Health Risk | Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1554252200 | Health Risk | Likely pathogenic | — |
| RS1562430103 | Health Risk | Likely pathogenic | — |
| RS1582953433 | Health Risk | Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1583215504 | Health Risk | Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer, Lung cancer |
| RS1779896481 | Health Risk | Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1790151629 | Health Risk | Likely pathogenic | — |
| RS778125254 | Health Risk | Likely pathogenic | — |
| RS137853055 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853057 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853058 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1562485799 | Health Risk | Pathogenic | — |
| RS1562519380 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1790398941 | Health Risk | Pathogenic | — |
| RS2115426221 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS2128330405 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS2483164755 | Health Risk | Pathogenic | — |
| RS2483164857 | Health Risk | Pathogenic | — |
| RS2483963312 | Health Risk | Pathogenic | — |
| RS2484941961 | Health Risk | Pathogenic | — |
| RS368134308 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS377554392 | Health Risk | Pathogenic | — |
| RS397514694 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS397518439 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS55777503 | Health Risk | Pathogenic | Young-onset Parkinson disease, Autosomal recessive juvenile Parkinson disease 2, Young-onset Parkinson disease |
| RS748142049 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer, Lung cancer |