Gene: PKD1L2

Alternate names for this Gene: PC1L2

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. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.2

Description of this Gene: polycystin 1 like 2 (gene/pseudogene)

Type of Gene: protein-coding

rs8059153 in PKD1L2 gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs11647428 in PKD1L2 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs55788414 in PKD1L2 gene and HYPOPLASTIC LEFT HEART SYNDROME 1 PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs55788414 in PKD1L2 gene and HYPOPLASTIC LEFT HEART SYNDROME 2 PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.