Gene: LRBA

Alternate names for this Gene: BGL|CDC4L|CVID8|LAB300|LBA

Gene Summary: The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4q31.3

Description of this Gene: LPS responsive beige-like anchor protein

Type of Gene: protein-coding

rs2290846 in LRBA gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs28521457 in LRBA gene and Chemical and Drug Induced Liver Injury PMID 28043905 2017 Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.

rs1560914625 in LRBA gene and IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY PMID 28473463 2017 Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

rs10010954 in LRBA gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs6823767 in LRBA gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2290846 in LRBA gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17588356 in LRBA gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.