EOMES Chromosome 3
Eomesodermin
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What This Gene Does
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]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
3p24.1
Ensembl
ENSG00000163508
Associated Conditions (1)
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553745484 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200215171 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome, Microcephaly-polymicrogyria-corpus callosum agenesis syndrome |