PTPRN2

Chr 7

protein tyrosine phosphatase receptor type N2

Also known as: IA-2beta, IAR, ICAAR, PTPRP, R-PTP-N2

NCBI Gene: 5799 ENSG00000155093 UniProt: Q92932 OMIM: 601698

The protein functions as a phosphatidylinositol phosphatase that regulates vesicle-mediated secretory processes, including insulin secretion and neurotransmitter accumulation in the brain. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early infancy with seizures, developmental delay, and abnormal movements affecting the neurological system. This gene is highly constrained against loss-of-function variation in the population.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

Multiple*

Mechanism· predicted