Gene: KIAA0319

Alternate names for this Gene: AAVR|DYLX2|DYX2|NMIG

Gene Summary: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: KIAA0319

Type of Gene: protein-coding

rs12197384 in KIAA0319 gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1555089 in KIAA0319 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4576240 in KIAA0319 gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs2760181 in KIAA0319 gene and Uric acid measurement (procedure) PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.