TBX21 Chromosome 17

T-box transcription factor 21
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in TBX21.

What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000073861
Associated Conditions (1)
Immunodeficiency 88
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2143417979 Health Risk Pathogenic Immunodeficiency 88, Immunodeficiency 88
Sign Up to Analyze Your DNA Log In