Gene: PTPRF

Alternate names for this Gene: BNAH2|LAR

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 two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: protein tyrosine phosphatase receptor type F

Type of Gene: protein-coding

rs11210887 in PTPRF gene and Attention deficit hyperactivity disorder PMID 30610198 2019 Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

PMID 30478444 2019 Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

rs61769611 in PTPRF gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11210887 in PTPRF gene and Cannabis use PMID 30610198 2019 Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

rs6695915 in PTPRF gene and Cerebrovascular accident PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs11210871 in PTPRF gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

rs3001723 in PTPRF gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs10890263 in PTPRF gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.