rs478582
This is a intron variant variant in the PTPN2 gene.
▶Research that mentions this SNP (1)
▶A polymorphism in PTPN2 gene is associated with an earlier onset of type 1 diabetesAssociationN=1,300Laura Espino-Paisan et al.(2011)· Immunogenetics
This case-control study of 439 Spanish type 1 diabetes (T1D) patients and 861 controls examined the association of PTPN2 polymorphisms with T1D and age at disease onset. The rs2542151*G allele was significantly associated with early-onset T1D (≤16 years) with OR=1.61 (p=0.005) and was linked to earlier disease debut compared to TT homozygotes (mean 16.6 vs 19.1 years, p=0.034), while the rs478582 polymorphism showed no significant association with age at onset.
About PTPN2
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]
View all PTPN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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