EOMES (Eomesodermin) Gene
T-box transcription factor critical for embryonic development and immune cell differentiation
Gene Information Card
| Symbol | EOMES |
|---|---|
| Full Name | eomesodermin |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.1 |
| NCBI Gene ID | 8320 ncbi.nlm.nih.gov/gene/8320 |
| Ensembl ID | ENSG00000163508 |
| UniProt ID | O95936 |
| OMIM ID | 604615 |
| HGNC ID | 3372 |
| Aliases | TBR2, T-box brain protein 2 |
Description
EOMES encodes a member of the T-box family of transcription factors, which are key regulators of mesoderm and neural development. The protein is essential for trophoblast formation, brain development, and the differentiation of CD8+ T cells into effector and memory subsets. EOMES expression is tightly regulated during embryogenesis and in adult immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | EOMES promoter hypermethylation leads to reduced expression, contributing to tumor progression | ClinVar, COSMIC |
| Breast cancer | Loss of EOMES expression correlates with poor prognosis and metastatic potential | COSMIC, PubMed |
| Neurodevelopmental disorders | EOMES mutations impair forebrain development, associated with microcephaly and intellectual disability | OMIM, ClinVar |
| Immunodeficiency | Defective EOMES impairs CD8+ T cell memory formation, increasing susceptibility to infections | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Lymph node | 6.7 | Low |
| Spleen | 5.9 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| CD8+ T cells | 15.2 | Effector and memory subsets |
| NK cells | 10.8 | High expression |
| Neural progenitor cells | 9.5 | Critical for neurogenesis |
| HCT116 (colorectal) | 2.1 | Reduced due to methylation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss of function, associated with neurodevelopmental delay |
| c.457G>A (p.Glu153Lys) | Missense | Rare | Impaired DNA binding, reduced transcriptional activity |
| Promoter hypermethylation | Epigenetic | Common in colorectal cancer | Silencing of EOMES expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the T-box domain, leading to haploinsufficiency in neurodevelopment.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
Missense mutations in the T-box domain (e.g., p.Glu153Lys) may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T-box transcription factor pathway
• Mesoderm development
• CD8+ T cell differentiation and memory
• Neural crest differentiation
Protein Summary
EOMES (eomesodermin) is a 580-amino acid T-box transcription factor that binds to the consensus T-box binding element (TBE) to regulate gene expression. It contains a highly conserved DNA-binding T-box domain. The protein is critical for early embryonic patterning, particularly in mesoderm and neural development. In the immune system, EOMES drives the differentiation of CD8+ T cells into long-lived memory cells and regulates NK cell maturation. Dysregulation of EOMES is implicated in cancer (via epigenetic silencing) and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EOMES Knockout HEK293 Cell Line | EDJ-KQ6198 | Human | 8320 | Details Get a Quote |
| EOMES Knockout A-549 Cell Line | EDJ-KQ30035 | Human | 8320 | Details Get a Quote |
| EOMES Knockout HCT 116 Cell Line | EDJ-KQ30036 | Human | 8320 | Details Get a Quote |
| EOMES Knockout HeLa Cell Line | EDJ-KQ54854 | Human | 8320 | Details Get a Quote |
