EOMES

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. [provided by RefSeq, May 2013]

Eomesodermin

Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes.

Adaptive immune response Source: UniProtKB-KW
Brain development Source: UniProtKB
CD8-positive, alpha-beta T cell differentiation involved in immune response Source: UniProtKB
Cell differentiation involved in embryonic placenta development Source: UniProtKB
Cell fate specification Source: GO_Central
Endodermal cell fate specification Source: GO_Central
Endoderm formation Source: UniProtKB
Heart looping Source: GO_Central
Mesodermal to mesenchymal transition involved in gastrulation Source: UniProtKB
Mesoderm formation Source: UniProtKB
Negative regulation of DNA-binding transcription factor activity Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: MGI
Regulation of transcription by RNA polymerase II Source: GO_Central

Nucleus

A translocation t(3;10)(p24;q23) located 215 kb 3' to the EOMES gene but leading to loss of its expression was identified in a large consanguineous family. Homozygous silencing produces microcephaly associated with corpus callosum agenesis, bilateral polymicrogyria, ventricular dilatation and a small cerebellum.