RGD Reference Report - A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. - Rat Genome Database

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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

Authors: Bottini, N  Musumeci, L  Alonso, A  Rahmouni, S  Nika, K  Rostamkhani, M  MacMurray, J  Meloni, GF  Lucarelli, P  Pellecchia, M  Eisenbarth, GS  Comings, D  Mustelin, T 
Citation: Bottini N, etal., Nat Genet. 2004 Apr;36(4):337-8. Epub 2004 Mar 7.
RGD ID: 6484524
Pubmed: PMID:15004560   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1323   (Journal Full-text)

We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTPN22Humantype 1 diabetes mellitus  IAGP DNA: snp: cds: C1858T RGD 
Ptpn22Rattype 1 diabetes mellitus  ISOPTPN22 (Homo sapiens)DNA:snp: cds: 1858C>TRGD 
Ptpn22Mousetype 1 diabetes mellitus  ISOPTPN22 (Homo sapiens)DNA:snp: cds: 1858C>TRGD 

Objects Annotated

Genes (Rattus norvegicus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22)

Genes (Mus musculus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

Genes (Homo sapiens)
PTPN22  (protein tyrosine phosphatase non-receptor type 22)


Additional Information