Gene: NFATC2

Alternate names for this Gene: NFAT1|NFATP

Gene Summary: This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.2

Description of this Gene: nuclear factor of activated T cells 2

Type of Gene: protein-coding

rs16996066 in NFATC2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17728960 in NFATC2 gene and Allergic Reaction PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs3787184 in NFATC2 gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs6021268 in NFATC2 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.

rs754559199 in NFATC2 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs6021247 in NFATC2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6021276 in NFATC2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

rs6021247 in NFATC2 gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs12625547 in NFATC2 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6013210 in NFATC2 gene and Eosinophil count procedure 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.

rs6021247 in NFATC2 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs6021247 in NFATC2 gene and Mean blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs6021191 in NFATC2 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 25987655 2015 Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.

rs3787186 in NFATC2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16996066 in NFATC2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs193091397 in NFATC2 gene and Schizophrenia PMID 28924203 2017 The common variants implicated in microstructural abnormality of first episode and drug-naïve patients with schizophrenia.

PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

rs6021247 in NFATC2 gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

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

PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs12625547 in NFATC2 gene and Varicosity PMID 30998689 2019 Varicose veins of lower extremities: Insights from the first large-scale genetic study.

PMID 30566020 2018 Clinical and Genetic Determinants of Varicose Veins.