Format

Send to:

Choose Destination

EOMES eomesodermin [ Homo sapiens (human) ]

Gene ID: 8320, updated on 10-Oct-2019

Summary

Official Symbol
EOMESprovided by HGNC
Official Full Name
eomesoderminprovided by HGNC
Primary source
HGNC:HGNC:3372
See related
Ensembl:ENSG00000163508 MIM:604615
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

Genomic context

See EOMES in Genome Data Viewer
Location:
3p24.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (27715949..27722715, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (27757440..27764206, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene KIAA1143 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 2084 Neighboring gene long intergenic non-protein coding RNA 1980 Neighboring gene long intergenic non-protein coding RNA 1981 Neighboring gene VISTA enhancer hs1557

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II activating transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
CD8-positive, alpha-beta T cell differentiation involved in immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CD8-positive, alpha-beta T cell differentiation involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardioblast differentiation IEA
Inferred from Electronic Annotation
more info
 
cell differentiation involved in embryonic placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex regionalization IEA
Inferred from Electronic Annotation
more info
 
endoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
endodermal cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart looping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma production IEA
Inferred from Electronic Annotation
more info
 
mesendoderm development IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
mesodermal to mesenchymal transition involved in gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
trophectodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
eomesodermin homolog
Names
T-box brain protein 2

NCBI Reference Sequences (RefSeq)

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

  1. NG_042182.1 RefSeqGene

    Range
    5393..11763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278182.2NP_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/Swiss-Prot
    O95936
    UniProtKB/TrEMBL
    B7Z4K0
    Related
    ENSP00000388620.1, ENST00000449599.4
    Conserved Domains (2) summary
    cd00182
    Location:267460
    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:482703
    T-box_assoc; T-box transcription factor-associated
  2. NM_001278183.1NP_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:1161
    T-box; T-box
    pfam16176
    Location:187408
    T-box_assoc; T-box transcription factor-associated
  3. NM_005442.4NP_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
    O95936
    UniProtKB/TrEMBL
    B7Z4K0
    Related
    ENSP00000295743.4, ENST00000295743.8
    Conserved Domains (2) summary
    cd00182
    Location:267460
    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:463684
    T-box_assoc; T-box transcription factor-associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    27715949..27722715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265510.4XP_005265567.1  eomesodermin homolog isoform X1

    Conserved Domains (1) summary
    cd00182
    Location:267460
    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 ...
Support Center