Gene: TYK2

Alternate names for this Gene: IMD35|JTK1

Gene Summary: This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: tyrosine kinase 2

Type of Gene: protein-coding

rs34536443 in TYK2 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34536443 in TYK2 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34536443 in TYK2 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12720356 in TYK2 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2304256 in TYK2 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs34536443 in TYK2 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12720356 in TYK2 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs12720356 in TYK2 gene and Crohn Disease PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs12720356 in TYK2 gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

PMID 19966805 2010 The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.

rs280519 in TYK2 gene and Hypercholesterolemia, Familial PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs34536443 in TYK2 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12720356 in TYK2 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs34536443 in TYK2 gene and Juvenile pauciarticular chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs34536443 in TYK2 gene and Juvenile-Onset Still Disease PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs11085725 in TYK2 gene and Lupus Erythematosus, Systemic PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs34536443 in TYK2 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs11085725 in TYK2 gene and Myositis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs34536443 in TYK2 gene and Oligoarticular Juvenile Idiopathic Arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs34536443 in TYK2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34536443 in TYK2 gene and Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs2304256 in TYK2 gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

rs12720356 in TYK2 gene and Psoriasis PMID 20953190 2010 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs34536443 in TYK2 gene and Psoriasis vulgaris PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs11085725 in TYK2 gene and Rheumatoid Arthritis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

rs34536443 in TYK2 gene and Rheumatoid Arthritis, Systemic Juvenile PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs34536443 in TYK2 gene and Sarcoidosis PMID 26051272 2015 Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk.

rs11085725 in TYK2 gene and Systemic Scleroderma PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs34536443 in TYK2 gene and Systemic onset juvenile chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs770927552 in TYK2 gene and Tyrosine Kinase 2 Deficiency PMID 17088085 2006 Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.

PMID 22402565 2012 A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.

PMID 26304966 2015 Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

rs12720356 in TYK2 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.