EOMES (eomesodermin)

Gene

• Entrez ID: 8320
• Gene name: Eomesodermin
• Gene symbol: EOMES
• Synonyms (NCBI Gene): TBR2
• Chromosome: 3
• Chromosome location: 3p24.1
• 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 sy

SNPs

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

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
MIRT965004	hsa-miR-1271	CLIP-seq
MIRT965005	hsa-miR-1303	CLIP-seq
MIRT965006	hsa-miR-182	CLIP-seq
MIRT965007	hsa-miR-2467-3p	CLIP-seq
MIRT965008	hsa-miR-25	CLIP-seq
MIRT965009	hsa-miR-2964a-3p	CLIP-seq
MIRT965010	hsa-miR-3123	CLIP-seq
MIRT965011	hsa-miR-32	CLIP-seq
MIRT965012	hsa-miR-3613-3p	CLIP-seq
MIRT965013	hsa-miR-363	CLIP-seq
MIRT965014	hsa-miR-367	CLIP-seq
MIRT965015	hsa-miR-3925-5p	CLIP-seq
MIRT965016	hsa-miR-451b	CLIP-seq
MIRT965017	hsa-miR-922	CLIP-seq
MIRT965018	hsa-miR-92a	CLIP-seq
MIRT965019	hsa-miR-92b	CLIP-seq
MIRT965020	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU5F1	Repression	17068183

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001706	Process	Endoderm formation	IEA
GO:0001706	Process	Endoderm formation	ISS
GO:0001707	Process	Mesoderm formation	IBA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001707	Process	Mesoderm formation	ISS
GO:0001714	Process	Endodermal cell fate specification	IBA
GO:0001714	Process	Endodermal cell fate specification	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002302	Process	CD8-positive, alpha-beta T cell differentiation involved in immune response	IBA
GO:0002302	Process	CD8-positive, alpha-beta T cell differentiation involved in immune response	IEA
GO:0002302	Process	CD8-positive, alpha-beta T cell differentiation involved in immune response	IMP	17566017
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	17353897
GO:0007492	Process	Endoderm development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010002	Process	Cardioblast differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	20713518
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20713518
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048382	Process	Mesendoderm development	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0060706	Process	Cell differentiation involved in embryonic placenta development	IEA
GO:0060706	Process	Cell differentiation involved in embryonic placenta development	ISS
GO:0060809	Process	Mesodermal to mesenchymal transition involved in gastrulation	IEA
GO:0060809	Process	Mesodermal to mesenchymal transition involved in gastrulation	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604615
• HGNC: 3372
• e!Ensembl: ENSG00000163508

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOMES-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRO-ENTEROPANCREATIC NEUROENDOCRINE TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POLYMICROGYRIA, CORPUS CALLOSUM AGENESIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Conflicting classifications of pathogenicity	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTIVATED PI3K-DELTA SYNDROME	ACTIVATED PI3K-DELTA SYNDROME	BEFREE	29790605		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	28630305, 30116750		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25649652	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	26415720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	26415720		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	33296081	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24532676, 29388193, 32831971	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	21422001		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	33051600	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30679601	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24495857		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24495857	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune Nervous System Disorder	CTD_human_DG	27742544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	21076068		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23056278		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	26039340		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25517360, 33325636, 33802077, 34980144, 38071226	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23056278		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26753694, 39465721	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21422001	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	21422001		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	27539959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27539959		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17566017, 34975867	Associate	★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12970754		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34777632	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	36266053	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	CTD_human_DG	29915428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	29319368		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Associate	★☆☆☆☆ Found in Text Mining only
Immune Disorders, Nervous System	Immune Disorders, Nervous System	CTD_human_DG	27742544		★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	28485322		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30431161		★☆☆☆☆ Found in Text Mining only
ITK Deficiency	Lymphoproliferative syndrome	BEFREE	19425169		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	12920253		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29220122	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27775550, 30709927		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25517360		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33475152	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29774490		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17566017	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23008334		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23056278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	26039340		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27539959		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27539959		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	27539959		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	17353897, 21471212		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	17353897		★☆☆☆☆ Found in Text Mining only
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Multiple Myeloma	Multiple myeloma	Pubtator	33751038	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24495857, 26436530, 26762769, 30508560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	24495857, 29521285, 34246256, 35626671, 36266053	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	38009648	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31756785		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31756785	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	21329961		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11251160, 12920253, 21788354, 25517360, 27539959, 28684164, 29271784		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30679601	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31053597		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12970754		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29388193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	17943972		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29748761	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23056278	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations