PRKN
Homo sapiens
Gene Name: parkin RBR E3 ubiquitin protein ligase
Aliases: AR-JP, LPRS2, PARK2, PDJ
Chromosome No: 6
Chromosome Band: 6q26
Genetic Category: Genetic Association-Rare Single Gene variant-Functional
Aliases: AR-JP, LPRS2, PARK2, PDJ
Chromosome No: 6
Chromosome Band: 6q26
Genetic Category: Genetic Association-Rare Single Gene variant-Functional
Summary Statistics:
ASD Reports: 20
Recent Reports: 2
Annotated variants: 50
Associated CNVs: 7
Evidence score: 2
ASD Reports: 20
Recent Reports: 2
Annotated variants: 50
Associated CNVs: 7
Evidence score: 2
Gene Score: 3
Associated Disorders: |
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Relevance to Autism
In a genome-wide study, association was found between CNVs in the PRKN gene and autism in AGRE and ACC cohorts (European ancestry) (Glessner et al., 2009). In addition, a rare duplication in the PRKN gene has been identified in an individual with ASD (ORoak et al., 2012). As well, rare variants in the PRKN gene have been identified in individuals with autosomal recessive juvenile parkinsonism (Kitada et al., 1998).
Molecular Function
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.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
ASD
Positive Association
Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts.
MDD
Negative Association
Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study
ASD, schizophrenia
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through insilico analysis of its functional structure.
ASD
Support
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Prkn knockout mice show autistic-like behaviors and aberrant synapse formation
ASD
Support
Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder.
ADHD
Support
Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
DD
Highly Cited
Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease.
Highly Cited
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase.
Highly Cited
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
ARJP
Highly Cited
An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin.
Recent Recommendation
Identification of a novel Zn2+binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.
Recent Recommendation
Bacterial artificial chromosome transgenic mice expressing a truncated mutant parkin exhibit age-dependent hypokinetic motor deficits, dopaminergic...
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN188C004
copy_number_loss
5,780 MDD cases and 6,626 controls from four cohorts
Discovery