Gene: HBS1L

Alternate names for this Gene: EF-1a|ERFS|HBS1|HSPC276|eRF3c

Gene Summary: This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.3

Description of this Gene: HBS1 like translational GTPase

Type of Gene: protein-coding

rs9389268 in HBS1L gene and Aspartate aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs34208856 in HBS1L 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.

rs1014021 in HBS1L gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

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

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs2210366 in HBS1L gene and Eosinophil count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

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

PMID 21738478 2011 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.

rs1547247 in HBS1L gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

PMID 17767159 2007 A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

PMID 22936743 2012 Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

PMID 21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

rs12664956 in HBS1L gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

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.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

rs34208856 in HBS1L gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1331309 in HBS1L gene and Hematocrit procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

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

rs7776054 in HBS1L gene and Hemoglobin A2 measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

PMID 23043469 2013 HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.

rs7775698 in HBS1L gene and Hemoglobin measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

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

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs7775698 in HBS1L gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs7745098 in HBS1L gene and Hodgkin Disease PMID 24149102 2013 A combined analysis identifies new HL susceptibility loci mapping to 3p24.1 (rs3806624; P=1.14 × 10(-12), odds ratio (OR)=1.26) and 6q23.3 (rs7745098; P=3.42 × 10(-9), OR=1.21). rs3806624 localizes 5' to the EOMES (eomesodermin) gene within a p53 response element affecting p53 binding. rs7745098 maps intergenic to HBS1L and MYB, a region previously associated with haematopoiesis.

rs35786788 in HBS1L 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.

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.

rs12664956 in HBS1L gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

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

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

rs7775698 in HBS1L gene and Mean corpuscular hemoglobin concentration determination PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs7776054 in HBS1L gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7776054 in HBS1L gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34208856 in HBS1L gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11757577 in HBS1L gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 29066854 2017 2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio.

PMID 24026423 2014 A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

rs7775698 in HBS1L gene and Platelet mean volume determination (procedure) PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

rs530424960 in HBS1L gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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

rs1074849 in HBS1L gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

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

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

rs530424960 in HBS1L gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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

rs34164109 in HBS1L gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34208856 in HBS1L gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

rs34208856 in HBS1L 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.

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

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.