PTPN11
Homo sapiens
Gene Name: protein tyrosine phosphatase, non-receptor type 11
Aliases: BPTP3, CFC, MGC14433, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
Chromosome No: 12
Chromosome Band: 12q24.13
Genetic Category: Syndromic-Rare single gene variant--Functional
Associated Syndrome(s): Noonan syndrome
Aliases: BPTP3, CFC, MGC14433, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
Chromosome No: 12
Chromosome Band: 12q24.13
Genetic Category: Syndromic-Rare single gene variant--Functional
Associated Syndrome(s): Noonan syndrome
Summary Statistics:
ASD Reports: 27
Recent Reports: 3
Annotated variants: 44
Associated CNVs: 2
Evidence score: 3
ASD Reports: 27
Recent Reports: 3
Annotated variants: 44
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the PTPN11 gene have been identified with Noonan syndrome (Tartaglia et al., 2001).
Molecular Function
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Noonan syndrome
ASD
Support
A convergent molecular network underlying autism and congenital heart disease
ASD, congenital heart disease
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Cardiac defects, dysmorphic features
ASD, DD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
ID
DD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Congenital heart disease (CHD)
Neurodevelopmental disorders (NDD)
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD
Epilepsy/seizures, autistic features
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD, DD
Support
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
ASD
Support
Diagnostic yield of patients with undiagnosed intellectual disability
DD, ID
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Noonan syndrome
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Noonan syndrome
ID
Support
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Microcephaly
DD, epilepsy/seizures
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
Support
PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention.
Noonan syndrome
Recent Recommendation
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Congenital heart disease (CHD)
DD, learning disabilities
Recent Recommendation
Behavioral profile in RASopathies.
Noonan syndrome
Autistic features
Recent Recommendation
Autism traits in the RASopathies.
Noonan syndrome
Autistic features
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN277R006
missense_variant
c.236A>G
p.Gln79Arg
Familial
Paternal
Multiplex
GEN277R010
missense_variant
c.1507G>A
p.Gly503Arg
De novo
Multiplex
GEN277R011
missense_variant
c.184T>G
p.Tyr62Asp
De novo
Simplex
GEN277R020
missense_variant
c.1508G>A
p.Gly503Glu
Familial
Paternal
Multiplex
GEN277R030
missense_variant
c.1508G>A
p.Gly503Glu
Familial
Maternal
Multi-generational
Common
No Common Variants Available
