Gene: PTPRC

Alternate names for this Gene: B220|CD45|CD45R|GP180|L-CA|LCA|LY5|T200

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3-q32.1

Description of this Gene: protein tyrosine phosphatase receptor type C

Type of Gene: protein-coding

rs17668708 in PTPRC gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs17668708 in PTPRC gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs2296618 in PTPRC gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17669032 in PTPRC gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2296618 in PTPRC gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3767747 in PTPRC gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12733073 in PTPRC gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs59271985 in PTPRC gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs75567729 in PTPRC gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10919563 in PTPRC gene and Rheumatoid Arthritis PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

rs1553243550 in PTPRC gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 10700239 2000 Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.

rs2359952 in PTPRC gene and Ulcerative Colitis PMID 24837172 2015 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.

rs16843742 in PTPRC gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs10494783 in PTPRC gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.