PCDH9
Homo sapiens
Gene Name: protocadherin 9
Aliases: RP11-335P18.3
Chromosome No: 13
Chromosome Band: 13q21.32
Genetic Category: Rare Single Gene variant-Genetic association-Functional
Aliases: RP11-335P18.3
Chromosome No: 13
Chromosome Band: 13q21.32
Genetic Category: Rare Single Gene variant-Genetic association-Functional
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 13
Associated CNVs: 15
Evidence score: 2
ASD Reports: 11
Recent Reports: 1
Annotated variants: 13
Associated CNVs: 15
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the PCDH9 gene have been identified with autism (Marshall et al., 2008). As well, a rare deletion of the PCDH9 gene was found in a patient with PDD-NOS and mild intellectual disability (Leblond et al., 2012).
Molecular Function
encodes a cadherin-related neuronal receptor that localizes to synaptic junction s
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Positive Association
The Gene Encoding Protocadherin 9 (PCDH9), a Novel Risk Factor for Major Depressive Disorder.
MDD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
Deficiency of protocadherin 9 leads to reduction in positive emotional behaviour
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Highly Cited
Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14.
Recent Recommendation
Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain.
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
GEN191C001
intron_variant
rs9540720
c.3215-43545T>C;c.3113-43545T>C;c.3239-43545T>C;c.3341-43545T>C
Discovery cohort: three MDD GWAS datasets (23andMe, CONVERGE and PGC) totalling 89,610 cases and 246,603 controls, Combined cohort: discovery cohort plus two independent case-control cohorts (resulting in a combined total of 136,115 cases and 355,275 controls)
Discovery
