EOMES eomesodermin
Gene ID: 8320, updated on 11-Apr-2024Gene type: protein coding
Also known as: TBR2
- See all available tests in GTR for this gene
- Go to complete Gene record for EOMES
- Go to Variation Viewer for EOMES variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. GeneReviews: Not available |
Genomic context
- Location:
- 3p24.1
- Sequence:
- Chromosome: 3; NC_000003.12 (27715953..27722713, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EOMES variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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