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EOMES eomesodermin [ Homo sapiens (human) ]

Gene ID: 8320, updated on 27-Nov-2024

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
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Genomic context

See EOMES in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene KIAA1143 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:27754223-27754908 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:27755580-27756476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:27765995-27766869 Neighboring gene long intergenic non-protein coding RNA 2084 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:27769715-27770646 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:27770647-27771576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:27771577-27772508 Neighboring gene long intergenic non-protein coding RNA 1980 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:27862672-27863220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:27863221-27863768 Neighboring gene MPRA-validated peak4580 silencer Neighboring gene long intergenic non-protein coding RNA 1981 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:27924660-27925251 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:27981407-27981999 Neighboring gene VISTA enhancer hs1557 Neighboring gene long intergenic non-protein coding RNA 1967

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
eomesodermin homolog
Names
T-box brain protein 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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/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_001278183.2NP_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
    B7Z4I2, B7ZA51, G3XAI5, O95936, Q8TAZ2, Q9UPM7
    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: 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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    27715953..27722713 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265510.5XP_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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    27718036..27724801 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348060.1XP_054204035.1  eomesodermin homolog isoform X1