PTPRC
Homo sapiens
Gene Name: protein tyrosine phosphatase, receptor type, C
Aliases: LCA; LY5; B220; CD45; T200; CD45R; GP180
Chromosome No: 1
Chromosome Band: 1q31.3-q32.1
Genetic Category: Genetic Association--Rare Single Gene variant
Aliases: LCA; LY5; B220; CD45; T200; CD45R; GP180
Chromosome No: 1
Chromosome Band: 1q31.3-q32.1
Genetic Category: Genetic Association--Rare Single Gene variant
Summary Statistics:
ASD Reports: 11
Recent Reports: 4
Annotated variants: 10
Associated CNVs: 5
Evidence score: 2
ASD Reports: 11
Recent Reports: 4
Annotated variants: 10
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare deletions affecting the PTPRC gene have been identified with autism (Pinto et al., 2010). In addition, genetic association has been found between PTPRC and multiple sclerosis in the German population (Jacobsen et al., 2000).
Molecular Function
The encoded protein is a member of the protein tyrosine phosphatase (PTP) family that is an essential regulator of T- and B-cell antigen receptor signaling
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Highly Cited
Tyrosine phosphatase CD45 is essential for coupling T-cell antigen receptor to the phosphatidyl inositol pathway.
Highly Cited
A point mutation in PTPRC is associated with the development of multiple sclerosis.
MS
Recent Recommendation
PTPRC mutation associated with response to anti-tNF therapy in rheumatoid arthritis.
Recent Recommendation
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
Recent Recommendation
Differential impact of the CD45 juxtamembrane wedge on central and peripheral T cell receptor responses.
Recent Recommendation
Regulation of CD45 alternative splicing by heterogeneous ribonucleoprotein, hnRNPLL.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN206R003
missense_variant
c.367G>C
p.Asp123His
Familial
Extended multiplex (at least one pair of ASD affec
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year