PTPRB
Homo sapiens
Gene Name: protein tyrosine phosphatase, receptor type B
Aliases: PTPB; HPTPB; VEPTP; HPTP-BETA; R-PTP-BETA
Chromosome No: 12
Chromosome Band: 12q15
Genetic Category: Genetic association-Rare single gene variant
Aliases: PTPB; HPTPB; VEPTP; HPTP-BETA; R-PTP-BETA
Chromosome No: 12
Chromosome Band: 12q15
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 5
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
The same diplotype comprising three SNPs (rs6102794, rs6072694 and rs6102795) was implicated in both independent populations (stages) (Wittkowski et al., 2014).
Molecular Function
A member of the protein tyrosine phosphatase (PTP) family. This PTP belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. The functions of the interaction partners of this protein implicate roles in cell adhesion, neurite growth, and neuronal differentiation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
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
GEN605C001
intron_variant
rs10784860
c.5387+1843G>A;c.4463+1843G>A;c.5123+1843G>A;c.4733+1843G>A;c.3035+1843G>A
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
