InnateDB Protein
|
IDBP-23121.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
EOMES
|
Protein Name
|
eomesodermin
|
Synonyms
|
TBR2;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000295743
|
InnateDB Gene
|
IDBG-23119 (EOMES)
|
Protein Structure
|
|
Function |
Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes. {ECO:0000269PubMed:17353897, ECO:0000269PubMed:17566017}.
|
Subcellular Localization |
Nucleus {ECO:0000305}.
|
Disease Associations |
Note=A 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 and a small cerebellum.
|
Tissue Specificity |
Expressed in CD8+ T-cells. {ECO:0000269PubMed:17566017}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
2
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
3 [view]
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0001102
|
RNA polymerase II activating transcription factor binding
|
GO:0001191
|
RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
|
GO:0003677
|
DNA binding
|
GO:0003700
|
sequence-specific DNA binding transcription factor activity
|
GO:0043565
|
sequence-specific DNA binding
|
|
Biological Process |
GO:0000122
|
negative regulation of transcription from RNA polymerase II promoter
|
GO:0001706
|
endoderm formation
|
GO:0001707
|
mesoderm formation
|
GO:0002302
|
CD8-positive, alpha-beta T cell differentiation involved in immune response
|
GO:0006351
|
transcription, DNA-templated
|
GO:0006355
|
regulation of transcription, DNA-templated
|
GO:0007420
|
brain development
|
GO:0045893
|
positive regulation of transcription, DNA-templated
|
GO:0045944
|
positive regulation of transcription from RNA polymerase II promoter
|
GO:0060706
|
cell differentiation involved in embryonic placenta development
|
GO:0060809
|
mesodermal to mesenchymal transition involved in gastrulation
|
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001699
Transcription factor, T-box
IPR008967
p53-like transcription factor, DNA-binding
|
PFAM |
PF00907
|
PRINTS |
PR00937
|
PIRSF |
|
SMART |
SM00425
|
TIGRFAMs |
|
Modification |
|
SwissProt |
O95936
|
PhosphoSite |
PhosphoSite-O95936
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
8320
|
UniGene |
Hs.734211
|
RefSeq |
NP_005433
|
HUGO |
HGNC:3372
|
OMIM |
604615
|
CCDS |
CCDS2646
|
HPRD |
07054
|
IMGT |
|
EMBL |
AB031038
AB463608
AC098614
AJ010280
AK297389
AK316166
BC025363
CH471055
|
GenPept |
AAH25363
BAA83417
BAG73121
BAH12568
BAH14537
CAB37939
EAW64388
|
|
|