Gene: REL
Alternate names for this Gene: C-Rel
Gene Summary: This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 2
Location in Chromosome : 2p16.1
Description of this Gene: REL proto-oncogene, NF-kB subunit
Type of Gene: protein-coding
rs13031237 in
REL gene and
Autoimmune Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs6545836 in
REL gene and
Eczema
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs13031237 in
REL gene and
Immune System Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs13031237 in
REL gene and
Rheumatoid Arthritis
PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
PMID 20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.