Gene: NAB2

Alternate names for this Gene: MADER

Gene Summary: This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: NGFI-A binding protein 2

Type of Gene: protein-coding

Gene: STAT6

Alternate names for this Gene: D12S1644|IL-4-STAT|STAT6B|STAT6C

Gene Summary: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: signal transducer and activator of transcription 6

Type of Gene: protein-coding

rs1059513 in NAB2;STAT6 gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs1059513 in NAB2;STAT6 gene and Allergic Reaction PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

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

rs1059513 in NAB2;STAT6 gene and Allergic sensitization PMID 23817571 2013 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.

rs1059513 in NAB2;STAT6 gene and Asthma PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs1059513 in NAB2;STAT6 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.

rs1059513 in NAB2;STAT6 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1059513 in NAB2;STAT6 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.