EOMES eomesodermin [Homo sapiens (human)] - Gene

Summary

Official Symbol: EOMESprovided by HGNC
Official Full Name: eomesoderminprovided by HGNC
Primary source: HGNC:HGNC:3372
See related: Ensembl:ENSG00000163508 MIM:604615; AllianceGenome:HGNC:3372
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TBR2
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]
Expression: Biased expression in lymph node (RPKM 5.9), spleen (RPKM 5.3) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (27715953..27722713, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (27718036..27724801, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (27757444..27764204, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Eomes-dependent mitochondrial regulation promotes survival of pathogenic CD4+ T cells during inflammation.
Title: Eomes-dependent mitochondrial regulation promotes survival of pathogenic CD4+ T cells during inflammation.
T-BET and EOMES sustain mature human NK cell identity and antitumor function.
Title: T-BET and EOMES sustain mature human NK cell identity and antitumor function.
Transcriptional Pattern Analysis of Virus-Specific CD8+ T Cells in Hepatitis C Infection: Increased Expression of TOX and Eomesodermin During and After Persistent Antigen Recognition.
Title: Transcriptional Pattern Analysis of Virus-Specific CD8+ T Cells in Hepatitis C Infection: Increased Expression of TOX and Eomesodermin During and After Persistent Antigen Recognition.
The transcription factor Eomes promotes expression of inhibitory receptors on hepatic CD8(+) T cells during HBV persistence.
Title: The transcription factor Eomes promotes expression of inhibitory receptors on hepatic CD8(+) T cells during HBV persistence.
Eomesodermin regulate decidual CD4(+)T cell function during human early pregnancy.
Title: Eomesodermin regulate decidual CD4(+)T cell function during human early pregnancy.
Characterization of KIR + NKG2A + Eomes- NK-like CD8+ T cells and their decline with age in healthy individuals.
Title: Characterization of KIR + NKG2A + Eomes- NK-like CD8+ T cells and their decline with age in healthy individuals.
EOMES is essential for antitumor activity of CD8(+) T cells in chronic lymphocytic leukemia.
Title: EOMES is essential for antitumor activity of CD8(+) T cells in chronic lymphocytic leukemia.
T-BET and EOMES Accelerate and Enhance Functional Differentiation of Human Natural Killer Cells.
Title: T-BET and EOMES Accelerate and Enhance Functional Differentiation of Human Natural Killer Cells.
Impact of mTOR signaling pathway on CD8+ T cell immunity through Eomesodermin in response to invasive candidiasis.
Title: Impact of mTOR signaling pathway on CD8+ T cell immunity through Eomesodermin in response to invasive candidiasis.
Down-regulation of EOMES drives T-cell exhaustion via abolishing EOMES-mediated repression of inhibitory receptors of T cells in liver cancer.
Title: Down-regulation of EOMES drives T-cell exhaustion via abolishing EOMES-mediated repression of inhibitory receptors of T cells in liver cancer.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of T-bet, Eomesdermin, Blimp-1, Bcl-6, and Bcl-2 in stimulated but not in unstimulated CD8+T lymphocytes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Eomes (e-PCR), detects polymorphism
- UniSTS:164908

G66449 (e-PCR)
- UniSTS:230286

SHGC-76786 (e-PCR)
- UniSTS:23497

EOMES__7594 (e-PCR)
- UniSTS:466152

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CD8-positive, alpha-beta T cell differentiation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in CD8-positive, alpha-beta T cell differentiation involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in astrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardioblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation involved in embryonic placenta development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebral cortex neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex regionalization	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in endoderm formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endodermal cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in mesendoderm development	IEA Inferred from Electronic Annotation more info
involved_in mesoderm formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mesoderm formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesodermal to mesenchymal transition involved in gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in olfactory bulb development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in trophectodermal cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: eomesodermin homolog

Names: T-box brain protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042182.1 RefSeqGene

Range

5393..11763

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278182.2 → NP_001265111.1 eomesodermin homolog isoform 1

See identical proteins and their annotated locations for NP_001265111.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB031038, AK297461, BC025363, BC037568, BM720063, BX096900

Consensus CDS

CCDS63585.1

UniProtKB/TrEMBL

B7Z4K0

Related

ENSP00000388620.1, ENST00000449599.4

Conserved Domains (2) summary

cd00182
Location:267 → 460

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

pfam16176
Location:482 → 703

T-box_assoc; T-box transcription factor-associated
NM_001278183.2 → NP_001265112.1 eomesodermin homolog isoform 3

See identical proteins and their annotated locations for NP_001265112.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, 5' coding region and initiates translation at a downstream AUG, compared to variant 1. It encodes isoform 3 which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK316166, BC025363, BM720063, BX096900

Consensus CDS

CCDS63584.1

UniProtKB/Swiss-Prot

O95936

Related

ENSP00000487112.1, ENST00000461503.2

Conserved Domains (2) summary

pfam00907
Location:1 → 161

T-box; T-box

pfam16176
Location:187 → 408

T-box_assoc; T-box transcription factor-associated
NM_005442.4 → NP_005433.2 eomesodermin homolog isoform 2

See identical proteins and their annotated locations for NP_005433.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AB031038, AK297461, BC025363, BC037568, BM720063, BX096900

Consensus CDS

CCDS2646.1

UniProtKB/Swiss-Prot

B7Z4I2, B7ZA51, G3XAI5, O95936, Q8TAZ2, Q9UPM7

UniProtKB/TrEMBL

B7Z4K0

Related

ENSP00000295743.4, ENST00000295743.8

Conserved Domains (2) summary

cd00182
Location:267 → 460

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

pfam16176
Location:463 → 684

T-box_assoc; T-box transcription factor-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

27715953..27722713 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265510.5 → XP_005265567.1 eomesodermin homolog isoform X1

Conserved Domains (1) summary

cd00182
Location:267 → 460

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...