Gene: PXK

Alternate names for this Gene: MONAKA|SLOB

Gene Summary: This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.3

Description of this Gene: PX domain containing serine/threonine kinase like

Type of Gene: protein-coding

rs56384862 in PXK gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

rs143985986 in PXK gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13315871 in PXK gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs180977001 in PXK gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

rs6445975 in PXK gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs57700771 in PXK gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13315871 in PXK gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs2176082 in PXK gene and Systemic Scleroderma PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.

PMID 24387989 2014 Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.

rs55692656 in PXK gene and von Willebrand's factor (lab test) PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.