HELP     Sign In
Search

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.

External Links

        

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
Integrating de novo and inherited variants in 42
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...
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN188R001a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
 Simplex 
 GEN188R002a 
 copy_number_loss 
  
  
 Unknown 
  
 Multiplex 
 GEN188R003 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R004 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN188R005 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN188R006 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R007 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R008 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R009 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R010 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R011 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN188R012 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R013 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R014 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R015 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R016 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R017 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN188R018 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN188R019 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN188R020 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R021 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R022 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R023 
 copy_number_gain 
  
  
 De novo 
  
 Simplex 
 GEN188R024 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R025 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN188R026 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R027 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R028 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN188R029 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R030 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN188R031 
 copy_number_loss 
  
  
 Unknown 
  
 Simplex 
 GEN188R032 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R033 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R034 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R035 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R036 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R037 
 copy_number_gain 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN188R038 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN188R039 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN188R040 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R041 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN188R042 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN188R043a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
  
 GEN188R044 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN188R045 
 synonymous_variant 
 c.882C>T 
 p.Pro294%3D 
 De novo 
  
 Simplex 
 GEN188R046 
 missense_variant 
 c.850G>C 
 p.Gly284Arg 
 Unknown 
  
 Unknown 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
6
Duplication
 1
 
6
Duplication
 1
 
6
Deletion
 3
 
6
Deletion
 2
 
6
Deletion-Duplication
 4
 
6
Deletion-Duplication
 50
 
6
Deletion
 9
 

Model Summary

Parkin knockouts show altered dopaminergic signaling, and decreased methamphetamine-induced hyperactivity.

References

Type
Title
Author, Year
Primary
Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage.
Additional
Prkn knockout mice show autistic-like behaviors and aberrant synapse formation
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted deletion of parkin exon 3 resulting in frameshift after amino acid 57 of parkin.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129Sv/J
Genetic Background: C57BL/6
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain cytoarchitecture1
Abnormal
 Electron microscopy
 12-14 months
Brain cytoarchitecture1
Abnormal
 Electron microscopy
 12-14 months
Mitochondrial function1
Decreased
 Mitochondrial respiratory chain enzyme analysis
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Brain anatomy1
 No change
 Pathology
 Unreported
Brain morphology1
 No change
 Histology
 12-14 months
Brain morphology1
 No change
 Immunohistochemistry
 Unreported
Mitochondrial function1
 No change
 Mitochondrial respiratory chain enzyme analysis
 Unreported
Mitochondrial function1
 No change
 Mitochondrial respiratory chain enzyme analysis
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

No PIN Data Available
HELP
Copyright © 2017 MindSpec, Inc.