Gene: UBE2L3
Alternate names for this Gene: E2-F1|L-UBC|UBCH7|UbcM4
Gene Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene.
Gene is located in Chromosome: 22
Location in Chromosome : 22q11.21
Description of this Gene: ubiquitin conjugating enzyme E2 L3
Type of Gene: protein-coding
rs5754100 in
UBE2L3 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs5754100 in
UBE2L3 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs5754100 in
UBE2L3 gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs7445 in
UBE2L3 gene and
Alcohol consumption
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs5754166 in
UBE2L3 gene and
Alzheimer's Disease
PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
rs2266961 in
UBE2L3 gene and
Ankylosing spondylitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 23749187 2013 Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
rs4821112 in
UBE2L3 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.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2266961 in
UBE2L3 gene and
Cholangitis, Sclerosing
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs374588807 in
UBE2L3 gene and
Corpuscular Hemoglobin Concentration Mean
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
rs181359 in
UBE2L3 gene and
Crohn Disease
PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs34977459 in
UBE2L3 gene and
Finding of Mean Corpuscular Hemoglobin
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11089620 in
UBE2L3 gene and
Hepatitis B
PMID 24162738 2013 New loci associated with chronic hepatitis B virus infection in Han Chinese.
PMID 24162738 2013 We identified two new loci associated with chronic HBV infection: rs3130542 at 6p21.33 (near HLA-C, odds ratio (OR) = 1.33, P = 9.49 × 10(-14)) and rs4821116 at 22q11.21 (in UBE2L3, OR = 0.82, P = 1.71 × 10(-12)).
rs181360 in
UBE2L3 gene and
High density lipoprotein 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.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs4821112 in
UBE2L3 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.
rs2266959 in
UBE2L3 gene and
Inflammatory Bowel Diseases
PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
rs2266959 in
UBE2L3 gene and
Juvenile pauciarticular chronic arthritis
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs2266959 in
UBE2L3 gene and
Juvenile-Onset Still Disease
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs131654 in
UBE2L3 gene and
Lupus Erythematosus, Systemic
PMID 19838193 2009 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.
PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
rs5754100 in
UBE2L3 gene and
Lymphocyte Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs138665726 in
UBE2L3 gene and
Mean Corpuscular Volume (result)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs2266959 in
UBE2L3 gene and
Oligoarticular Juvenile Idiopathic Arthritis
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs2266959 in
UBE2L3 gene and
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs2266961 in
UBE2L3 gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs181359 in
UBE2L3 gene and
Psoriasis vulgaris
PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.
rs131656 in
UBE2L3 gene and
RDW - Red blood cell distribution width result
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.
rs131656 in
UBE2L3 gene and
Red cell distribution width determination
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.
rs131656 in
UBE2L3 gene and
Reticulocyte count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs2283790 in
UBE2L3 gene and
Rheumatoid Arthritis
PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
rs2266959 in
UBE2L3 gene and
Rheumatoid Arthritis, Systemic Juvenile
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs181362 in
UBE2L3 gene and
Serum HDL cholesterol measurement
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
rs5754102 in
UBE2L3 gene and
Serum total cholesterol measurement
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs2266959 in
UBE2L3 gene and
Systemic onset juvenile chronic arthritis
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs181362 in
UBE2L3 gene and
Tonometry
PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.
rs2266961 in
UBE2L3 gene and
Ulcerative Colitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 23511034 2013 Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.