Gene: EOMES

Alternate names for this Gene: TBR2

Gene Summary: This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p24.1

Description of this Gene: eomesodermin

Type of Gene: protein-coding

rs3806624 in EOMES gene and Hodgkin Disease PMID 24149102 2013 A combined analysis identifies new HL susceptibility loci mapping to 3p24.1 (rs3806624; P=1.14 × 10(-12), odds ratio (OR)=1.26) and 6q23.3 (rs7745098; P=3.42 × 10(-9), OR=1.21). rs3806624 localizes 5' to the EOMES (eomesodermin) gene within a p53 response element affecting p53 binding. rs7745098 maps intergenic to HBS1L and MYB, a region previously associated with haematopoiesis.

rs2371108 in EOMES gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs3806624 in EOMES gene and Rheumatoid Arthritis PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

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

rs2371108 in EOMES gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.