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    EOMES eomesodermin [ Homo sapiens (human) ]

    Gene ID: 8320, updated on 2-Oct-2018

    Summary

    Official Symbol
    EOMESprovided by HGNC
    Official Full Name
    eomesoderminprovided by HGNC
    Primary source
    HGNC:HGNC:3372
    See related
    Ensembl:ENSG00000163508 MIM:604615; Vega:OTTHUMG00000130570
    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:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized protein KIAA1143 pseudogene 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 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
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     

    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
      5001..11767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278182.1NP_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, AK316166, BC025363, BC037568, BM720063, BX096900
      Consensus CDS
      CCDS63585.1
      UniProtKB/Swiss-Prot
      O95936
      UniProtKB/TrEMBL
      B7Z4K0
      Related
      ENSP00000388620.1, OTTHUMP00000208392, ENST00000449599.3, OTTHUMT00000340998
      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, OTTHUMP00000278724, ENST00000461503.2, OTTHUMT00000341000
      Conserved Domains (2) summary
      pfam00907
      Location:1161
      T-box; T-box
      pfam16176
      Location:187408
      T-box_assoc; T-box transcription factor-associated
    3. NM_005442.3NP_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, AK316166, BC025363, BC037568, BM720063, BX096900
      Consensus CDS
      CCDS2646.1
      UniProtKB/Swiss-Prot
      O95936
      UniProtKB/TrEMBL
      B7Z4K0
      Related
      ENSP00000295743.4, OTTHUMP00000161129, ENST00000295743.8, OTTHUMT00000252995
      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 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 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 ...
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