PPP2R1B
Homo sapiens
Gene Name: protein phosphatase 2 regulatory subunit A, beta
Aliases: PP2A-Abeta, PR65B
Chromosome No: 11
Chromosome Band: 11q23.1
Genetic Category: Rare single gene variant-
Aliases: PP2A-Abeta, PR65B
Chromosome No: 11
Chromosome Band: 11q23.1
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 8
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 3
Evidence score: 2
ASD Reports: 8
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the PPP2R1B gene in ASD probands (Sanders et al., 2012; Fromer et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 9.60E-04 (Takata et al., 2016).
Molecular Function
This gene encodes for the PR65 subunit of protein phosphatase 2A, which serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN810R003
missense_variant
c.1352A>C;c.1541A>C;c.1598A>C;c.A1733A>C
p.Lys451Thr;p.Lys514Thr;p.Lys533Thr;p.Lys578Thr
De novo
Simplex
GEN810R004
frameshift_variant
c.344_345del
p.Val115GlyfsTer3
Familial
Paternal
Simplex
GEN810R005
frameshift_variant
c.343_344del
p.Val115CysfsTer3
Unknown
Not paternal
Simplex
GEN810R007
frameshift_variant
c.632_635del
p.Asp211ValfsTer2
Familial
Maternal
Simplex
GEN810R008
frameshift_variant
c.343_344del
p.Val115CysfsTer3
Familial
Paternal
Multiplex
Common
No Common Variants Available
