rs193920806

This variant is located in the PTPRN2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
2 submitters1 publication

Prostate cancer; not specified

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About PTPRN2

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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