Gene: SOX6
Alternate names for this Gene: HSSOX6|SOXD|TOLCAS
Gene Summary: This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 11
Location in Chromosome : 11p15.2
Description of this Gene: SRY-box transcription factor 6
Type of Gene: protein-coding
rs1455114 in
SOX6 gene and
Adolescent idiopathic scoliosis
PMID 30395268 2018 Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
rs10766309 in
SOX6 gene and
Alcohol consumption
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs1156725 in
SOX6 gene and
Blood Pressure
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
PMID 23972371 2013 Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
PMID 22100073 2011 Blood pressure loci identified with a gene-centric array.
rs1455115 in
SOX6 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12800049 in
SOX6 gene and
Bone Density
PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
rs10832571 in
SOX6 gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs34156428 in
SOX6 gene and
Coronary Artery Disease
PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
rs1156725 in
SOX6 gene and
Diastolic blood pressure
PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
PMID 23972371 2013 Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
rs1837095 in
SOX6 gene and
Finding of Mean Corpuscular Hemoglobin
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.
rs7109376 in
SOX6 gene and
Hair Color
PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
rs6486291 in
SOX6 gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs7925853 in
SOX6 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs297346 in
SOX6 gene and
Major Depressive Disorder
PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
rs17462448 in
SOX6 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 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs10766309 in
SOX6 gene and
Mean blood pressure
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
rs297346 in
SOX6 gene and
Mood Disorders
PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
rs297325 in
SOX6 gene and
Obesity
PMID 19714249 2009 Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.
rs297325 in
SOX6 gene and
Osteoporosis
PMID 19714249 2009 Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.
rs10741688 in
SOX6 gene and
RDW - Red blood cell distribution width result
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs10741688 in
SOX6 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.
PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
rs12365482 in
SOX6 gene and
Reticulocyte count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1455114 in
SOX6 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30395268 2018 Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
rs6486291 in
SOX6 gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs7925853 in
SOX6 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs10832586 in
SOX6 gene and
Systolic Pressure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
PMID 23972371 2013 Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
rs11023906 in
SOX6 gene and
Systolic 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.
rs75491173 in
SOX6 gene and
Vital capacity
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs10832648 in
SOX6 gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.