PTPRN2 Chromosome 7
Protein tyrosine phosphatase receptor type N2
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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 | — |