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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
EOMES-related disorder	Likely benign; Uncertain significance	rs964435966, rs2060618098, rs561570432, rs539715811, rs3062761, rs916686138, rs2473924183, rs376621022, rs529375594, rs546902544	RCV003980920 RCV003973911 RCV003943991 RCV003951989 RCV003972070 RCV003959129 RCV003976376 RCV003962358 RCV003975637 RCV003975740
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Conflicting classifications of pathogenicity	rs200215171	RCV005361166

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
Colorectal Neoplasms	Associate	17566017, 34975867
Coronary Artery Disease	Associate	34777632
COVID 19	Inhibit	35312683
Cytokine Release Syndrome	Associate	33934108
Demyelinating Diseases	Stimulate	36266053
Drug Related Side Effects and Adverse Reactions	Associate	25100841
Early Onset Glaucoma	Associate	31053597
HIV Infections	Associate	24520422, 25100841, 29641325
Hodgkin Disease	Associate	34807923
Infectious Mononucleosis	Associate	26416268
Latent Infection	Inhibit	36824620
Leukemia Myeloid Acute	Associate	29220122
Lown Ganong Levine Syndrome	Stimulate	33475152
Lupus Erythematosus Systemic	Associate	33475152
Lymphatic Metastasis	Associate	17566017
Malaria	Associate	32983106
Multiple Myeloma	Associate	33751038
Multiple Sclerosis	Associate	24495857, 29521285, 34246256, 35626671, 36266053
Multiple Sclerosis	Inhibit	38009648
Multiple Sclerosis Relapsing Remitting	Associate	29521285
Myelodysplastic Syndromes	Inhibit	31756785
Neoplasms	Associate	22735807, 23056278, 39620210
Neoplasms	Inhibit	25517360, 33325636
Neurodegenerative Diseases	Associate	30679601
Niemann Pick Disease Type C	Associate	28578005
Osteogenesis imperfecta type 1A	Associate	35711453
Tn Syndrome	Associate	29892290
Triple Negative Breast Neoplasms	Associate	29748761
Urinary Bladder Neoplasms	Associate	23056278
White Coat Hypertension	Inhibit	24495857