EOMES (eomesodermin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8320
Gene name Gene Name - the full gene name approved by the HGNC.
Eomesodermin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EOMES
Synonyms (NCBI Gene) Gene synonyms aliases
TBR2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 sy
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs200215171 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant, intron variant
rs1553745484 ->GCC,GGAGCC,GGCGCC,GGCGGCGCC,GGCGGCGGCGCC,GGCGGCGGCGGCGCC,GGCGGCGGCGGCGGCGCC,GGCGGCGGCGGCGGCGGCGGCGCC,GGCGGCTGCGCC Conflicting-interpretations-of-pathogenicity, benign Inframe insertion, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
miRTarBase ID miRNA Experiments Reference
MIRT006568 hsa-miR-106b-5p Luciferase reporter assay 20709030
MIRT006568 hsa-miR-106b-5p Luciferase reporter assay 20709030
MIRT006568 hsa-miR-106b-5p Luciferase reporter assay 20709030
MIRT006568 hsa-miR-106b-5p Luciferase reporter assay 20709030
MIRT965003 hsa-miR-1248 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
POU5F1 Repression 17068183
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0001102 Function RNA polymerase II activating transcription factor binding ISS
GO:0001706 Process Endoderm formation ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604615 3372 ENSG00000163508
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID O95936
Protein name Eomesodermin homolog (T-box brain protein 2) (T-brain-2) (TBR-2)
Protein 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 devel
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 269 → 456 T-box Domain
PF16176 T-box_assoc 463 → 684 T-box transcription factor-associated Family
Tissue specificity TISSUE SPECIFICITY: Expressed in CD8+ T-cells. {ECO:0000269|PubMed:17566017}.
Sequence 
MQLGEQLLVSSVNLPGAHFYPLESARGGSGGSAGHLPSAAPSPQKLDLDKASKKFSGSLS
CEAVSGEPAAASAGAPAAMLSDTDAGDAFASAAAVAKPGPPDGRKGSPCGEEELPSAAAA
AAAAAAAAAATARYSMDSLSSERYYLQSPGPQGSELAAPCSLFPYQAAAGAPHGPVYPAP
NGARYPYGSMLPPGGFPAAVCPPGRAQFGPGAGAGSGAGGSSGGGGGPGTYQYSQGAPLY
GPYPGAAAAGSCGGLGGLGVPGSGFRAHVYLCNRPLWLKFHRHQTEMIITKQGRRMFPFL
SFNINGLNPTAHYNVFVEVVLADPNHWRFQGGKWVTCGKADNNMQGNKMYVHPESPNTGS
HWMRQEISFGKLKLTNNKGANNNNTQMIVLQSLHKYQPRLHIVEVTEDGVEDLNEPSKTQ
TFTFSETQFIAVTAYQNTDITQLKIDHNPFAKGFRDNYDSSHQIVPGGRYGVQSFFPEPF
VNTLPQARYYNGERTVPQTNGLLSPQQSEEVANPPQRWLVTPVQQPGTNKLDISSYESEY
TSSTLLPYGIKSLPLQTSHALGYYPDPTFPAMAGWGGRGSYQRKMAAGLPWTSRTSPTVF
SEDQLSKEKVKEEIGSSWIETPPSIKSLDSNDSGVYTSACKRRRLSPSNSSNENSPSIKC
EDINAEEYSKDTSKGMGGYYAFYTTP
Sequence length 686
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 27539959
Polymicrogyria Polymicrogyria rs1558010146, rs1558003446, rs1575508937
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome microcephaly-polymicrogyria-corpus callosum agenesis syndrome GenCC
Rheumatoid arthritis Rheumatoid arthritis GWAS
Multiple Sclerosis Multiple Sclerosis GWAS
Ankylosing Spondylitis Ankylosing Spondylitis GWAS
Show/Hide Text Mining Associations (40)
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 33637323
Alzheimer Disease Associate 25649652
Arthritis Juvenile Associate 33296081
Arthritis Rheumatoid Associate 24532676, 29388193, 32831971
Astrocytoma Associate 33051600
Ataxia Telangiectasia Associate 30679601
Autoimmune Diseases Associate 24495857
Carcinoma Hepatocellular Associate 25517360, 33325636, 33802077, 34980144, 38071226
Carcinoma Renal Cell Associate 26753694, 39465721
Cardiomyopathy Dilated Stimulate 21422001