Gene: PTPRN

Alternate names for this Gene: IA-2|IA-2/PTP|IA2|ICA512|R-PTP-N

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: protein tyrosine phosphatase receptor type N

Type of Gene: protein-coding

rs2292604 in PTPRN gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs79047930 in PTPRN gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs79047930 in PTPRN gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.