PPP1R3F
Homo sapiens
Gene Name: protein phosphatase 1, regulatory (inhibitor) subunit 3F
Aliases: HB2E
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare Single Gene variant-Rare single gene variant/Functional
Aliases: HB2E
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare Single Gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 18
Associated CNVs: 9
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 18
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Rare mutations in the PPP1R3F gene have been identified with autism (Piton et al., 2011).
Molecular Function
Regulatory subunit of type-1 protein phosphatase
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
ASD
ID
Highly Cited
Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN200R012
missense_variant
c.538C>T
p.His180Tyr
Familial
Maternal
Extended multiplex
GEN200R014
frameshift_variant
c.252dup
p.Arg85GlnfsTer34
Familial
Maternal
Simplex
GEN200R017
frameshift_variant
c.207_228del
p.Gly70AlafsTer95
Familial
Maternal
Simplex
Common
No Common Variants Available