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

Properties

SIZE: entity length = 686 aa MW = 73 kD COMPARTMENT: cell nucleus MOTIF: alanine-rich region {69-132} MOTIF: alanine residue (SEVERAL) glycine-rich region {194-264} T-box domain SITE: 276-456 transcriptional activation domain SITE: 571-686

Database Correlations

OMIM 604615 UniProt O95936 Pfam PF00907 Entrez Gene 8320 Kegg hsa:8320

References

UniProt :accession O95936