PARD3B
Homo sapiens
Gene Name: Par-3 partitioning defective 3 homolog B (C. elegans)
Aliases: ALS2CR19, PAR3B, PAR3L, PAR3LC, PAR3beta, Par3Lb
Chromosome No: 2
Chromosome Band: 2q33.3
Genetic Category: Genetic association-Rare single gene variant
Aliases: ALS2CR19, PAR3B, PAR3L, PAR3LC, PAR3beta, Par3Lb
Chromosome No: 2
Chromosome Band: 2q33.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 10
Evidence score: 2
ASD Reports: 9
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP within the PARD3B gene showed association in the primary analyses of a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN391R005
frameshift_variant
c.598_599del
p.Met200AspfsTer37
Familial
Paternal
GEN391R010a
missense_variant
c.1222G>A
p.Gly408Ser
Familial
Both parents
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN391C001
intron_variant
rs4675502
c.2141-24331G>A;c.1955-24331G>A;c.1544-24331G>A
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
