PTPRJ Chromosome 11

Protein tyrosine phosphatase receptor type J
5 variants 5 Health Risk

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What This Gene Does
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, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000149177
Associated Conditions (4)
Carcinoma of colon
Colorectal cancer
PTPRJ-related disorder
Thrombocytopenia 10
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS144207207 Health Risk Conflicting classifications of pathogenicity
RS1566734 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer, PTPRJ-related disorder
RS121434507 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2495194878 Health Risk Pathogenic Thrombocytopenia 10, Thrombocytopenia 10
RS758226104 Health Risk Pathogenic Thrombocytopenia 10, Thrombocytopenia 10
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