rs2270993
This is a splice region variant variant in the PTPRJ gene.
▶Research that mentions this SNP (1)
▶High‐resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to non‐hodgkin's lymphomaAssociationN=207Carlos Aya‐Bonilla et al.(2013)· Genes, Chromosomes and Cancer
High-resolution LOH analysis identified PTPRJ (11p11.2) as a potential tumor suppressor gene in non-Hodgkin's lymphoma, with loss of heterozygosity in 38% of cases (33% DLBCL, 43% FL). Coding SNPs rs2270993 (G973A), rs2270992 (T1054C), rs1566734 (A1182C), and rs4752904 (G2971C) showed significant allelic frequency differences between LOH and retention cases, with haplotype GTCG conferring protective effects (OR=0.33, p=0.021) and GCAC associated with increased risk in LOH cases.
About PTPRJ
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]
View all PTPRJ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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