Gene: PRICKLE2

Alternate names for this Gene: EPM5

Gene Summary: This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.1

Description of this Gene: prickle planar cell polarity protein 2

Type of Gene: protein-coding

rs696021 in PRICKLE2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs27387 in PRICKLE2 gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs17404667 in PRICKLE2 gene and Calcification of coronary artery PMID 23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.

rs202170644 in PRICKLE2 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs864089 in PRICKLE2 gene and Juvenile-Onset Still Disease PMID 27927641 2017 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

rs864089 in PRICKLE2 gene and Rheumatoid Arthritis, Systemic Juvenile PMID 27927641 2017 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

rs696021 in PRICKLE2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs864089 in PRICKLE2 gene and Systemic onset juvenile chronic arthritis PMID 27927641 2017 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.