Gene: CSK
Alternate names for this Gene: -
Gene Summary: The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 15
Location in Chromosome : 15q24.1
Description of this Gene: C-terminal Src kinase
Type of Gene: protein-coding
rs1378942 in
CSK gene and
Blood Pressure
PMID 21378095 2011 Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
rs12439944 in
CSK gene and
Carcinoma of lung
PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
rs1378942 in
CSK gene and
Coronary Artery Disease
PMID 30525989 2018 Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.
rs1378942 in
CSK gene and
Coronary heart disease
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
rs1350193 in
CSK gene and
Diastolic 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 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
PMID 19430483 2009 Genome-wide association study identifies eight loci associated with blood pressure.
PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
rs1350193 in
CSK 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.
PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
PMID 19430483 2009 Genome-wide association study identifies eight loci associated with blood pressure.
rs1378942 in
CSK gene and
Mean blood pressure
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs1378942 in
CSK gene and
Serum total cholesterol measurement
PMID 30525989 2018 Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.
rs1378942 in
CSK gene and
Systemic Scleroderma
PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
rs1378942 in
CSK gene and
Systolic Pressure
PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
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 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
rs1378942 in
CSK gene and
Systolic blood pressure measurement
PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.