PTPRN2 Chromosome 7

Protein tyrosine phosphatase receptor type N2
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
"Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7q36.3
Ensembl
ENSG00000155093
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS138046898 Health Risk Conflicting classifications of pathogenicity
RS144856548 Health Risk Conflicting classifications of pathogenicity
RS145671265 Health Risk Conflicting classifications of pathogenicity
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