Gene: DOT1L

Alternate names for this Gene: DOT1|KMT4

Gene Summary: The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: DOT1 like histone lysine methyltransferase

Type of Gene: protein-coding

rs11880992 in DOT1L gene and Body Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

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

PMID 18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.

rs1015670 in DOT1L gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs12982744 in DOT1L gene and Degenerative polyarthritis PMID 22566624 2012 Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.

rs11880992 in DOT1L gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.

rs8108461 in DOT1L gene and Hematocrit procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12610645 in DOT1L gene and Hemoglobin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

rs1003531 in DOT1L gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs4807205 in DOT1L gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12459507 in DOT1L gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

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

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs2864419 in DOT1L gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11882273 in DOT1L gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.