Gene: PKD1L3

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.2

Description of this Gene: polycystin 1 like 3, transient receptor potential channel interacting

Type of Gene: protein-coding

rs1035543 in PKD1L3 gene and Cerebrovascular accident PMID 23422753 2013 Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.

rs1035560 in PKD1L3 gene and Fibrinogen assay PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

PMID 26561523 2016 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

rs12600121 in PKD1L3 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs7205297 in PKD1L3 gene and Left ventricular mass PMID 21212386 2011 Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families.

rs7192750 in PKD1L3 gene and Low density lipoprotein cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs12597458 in PKD1L3 gene and Prostate carcinoma PMID 25939597 2015 Two susceptibility loci identified for prostate cancer aggressiveness.

rs1035543 in PKD1L3 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs1122531 in PKD1L3 gene and Serum total cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs10852506 in PKD1L3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.