eomesodermin homolog; T-box brain protein 2; T-brain-2; TBR-2 (EOMES, TBR2)

Function

• transcriptional activator during development
• role in trophoblast differentiation & later in gastrulation, regulating both mesoderm delamination & endoderm specification
• role in brain development being required for the specification & proliferation of intermediate progenitor cells & their progeny in the cerebral cortex
• also involved in differentiation of CD8+ T-cells during immune response regulating expression of lytic effector genes

Structure

• contains 1 T-box DNA-binding domain

Compartment

nucleus (probable)

Expression

• expressed in CD8+ T-cells
• detected at 7 weeks of development in the forebrain floorplate
• expressed within the mantle layer & migrating neuroblasts of the telencephalon at 12.5 weeks of development
• induced by in CD8+ T-cells simultaneously stimulated with TGFB1 & IL4/interleukin-4

Pathology

• 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 & a small cerebellum

More general terms

• DNA-binding protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8320
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8320
• OMIM: https://mirror.omim.org/entry/604615
• UniProt: http://www.uniprot.org/uniprot/O95936.html