Gene: HECTD4
Alternate names for this Gene: C12ord51|C12orf51|HEEL|POTAGE
Gene Summary:
Gene is located in Chromosome: 12
Location in Chromosome : 12q24.13
Description of this Gene: HECT domain E3 ubiquitin protein ligase 4
Type of Gene: protein-coding
rs11066280 in
HECTD4 gene and
Alanine aminotransferase measurement
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs11066280 in
HECTD4 gene and
Alcohol consumption
PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
PMID 21270382 2011 Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
PMID 28485404 2017 Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs11066280 in
HECTD4 gene and
Aspartate aminotransferase measurement
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
rs11066280 in
HECTD4 gene and
Blood Pressure
PMID 21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
rs555346412 in
HECTD4 gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs2074356 in
HECTD4 gene and
Blood urea nitrogen measurement
PMID 22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
rs2301712 in
HECTD4 gene and
Body mass index
PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
rs2285810 in
HECTD4 gene and
C-reactive protein measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs11066188 in
HECTD4 gene and
Celiac Disease
PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.
rs11066280 in
HECTD4 gene and
Coronary heart disease
PMID 22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.
PMID 23364394 2013 A genome-wide association study of a coronary artery disease risk variant.
rs11066188 in
HECTD4 gene and
Corpuscular Hemoglobin Concentration Mean
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
rs2285809 in
HECTD4 gene and
Diabetes Mellitus, Insulin-Dependent
PMID 18978792 2008 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
rs2074356 in
HECTD4 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 23575436 2013 New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
rs11066188 in
HECTD4 gene and
Diastolic blood pressure
PMID 27736895 2016 Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans.
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
PMID 21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs7953257 in
HECTD4 gene and
Diastolic blood pressure measurement
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs11066280 in
HECTD4 gene and
Drinking behavior processes
PMID 23364009 2013 The association results of drinking behavior (drinkers or nondrinkers) showed a cluster of single nucleotide polymorphisms at 12q24 in discovery (P < 5 × 10(-8)), with the strongest association for rs11066280 near C12orf51 (P-combined = 3.26 × 10(-215)).
PMID 23364009 2013 Common variants at 12q24 are associated with drinking behavior in Han Chinese.
rs555346412 in
HECTD4 gene and
Eosinophil count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11066280 in
HECTD4 gene and
Esophageal Neoplasms
PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
PMID 20833657 2010 Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.
rs2074356 in
HECTD4 gene and
Gamma glutamyl transferase measurement
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs555346412 in
HECTD4 gene and
Granulocyte count
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11066280 in
HECTD4 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 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs11066280 in
HECTD4 gene and
Hypertensive disease
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
rs11066188 in
HECTD4 gene and
Hypothyroidism
PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.
rs2285810 in
HECTD4 gene and
Low density lipoprotein cholesterol measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs11066280 in
HECTD4 gene and
Major Depressive Disorder
PMID 23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
rs11066280 in
HECTD4 gene and
Malignant neoplasm of esophagus
PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
rs2074356 in
HECTD4 gene and
Mean Corpuscular Volume (result)
PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
rs1005902 in
HECTD4 gene and
Mean blood pressure
PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs11066194 in
HECTD4 gene and
Metabolic Syndrome X
PMID 30382898 2018 Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.
PMID 25705158 2014 In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < 5 × 10(-6)), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < 1.38 × 10(-7), Bonferroni-adjusted p < 0.05).
rs555346412 in
HECTD4 gene and
Neutrophil count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11066188 in
HECTD4 gene and
Red Blood Cell Count measurement
PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
rs11066188 in
HECTD4 gene and
Rheumatoid Arthritis
PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.
rs11066280 in
HECTD4 gene and
Serum Alanine Aminotransferase Measurement
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
rs2074356 in
HECTD4 gene and
Serum HDL cholesterol measurement
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs11066280 in
HECTD4 gene and
Serum albumin measurement
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs2074356 in
HECTD4 gene and
Serum gamma-glutamyl transferase measurement
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs11066280 in
HECTD4 gene and
Systolic Pressure
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
PMID 21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs11066188 in
HECTD4 gene and
Tetralogy of Fallot
PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
rs11066280 in
HECTD4 gene and
Triglycerides measurement
PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.
rs11066280 in
HECTD4 gene and
Uric acid measurement (procedure)
PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
rs2074356 in
HECTD4 gene and
Waist-Hip Ratio
PMID 19396169 2009 For waist-hip ratio, variants on chromosome 12q24 (rs2074356, P = 7.8 x 10(-12)) showed convincing associations, although no regional transcript has strong biological candidacy.
rs555346412 in
HECTD4 gene and
White Blood Cell Count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.