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EOMES eomesodermin [ Homo sapiens (human) ]

Gene ID: 8320, updated on 13-Jan-2015
Official Symbol
EOMESprovided by HGNC
Official Full Name
eomesoderminprovided by HGNC
Primary source
HGNC:HGNC:3372
See related
Ensembl:ENSG00000163508; HPRD:07054; 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]
Orthologs
See EOMES in MapViewer
Location:
3p24.1
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 ribosomal protein S27 pseudogene 11 Neighboring gene tropomyosin 1 (alpha) pseudogene Neighboring gene uncharacterized LOC100996624 Neighboring gene C-x(9)-C motif containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
CD8-positive, alpha-beta T cell differentiation involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 transcription from RNA polymerase II promoter 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 from RNA polymerase II promoter 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 maintenance IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
trophectodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
eomesodermin homolog
Names
eomesodermin homolog
T-box brain protein 2

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.

mRNA and Protein(s)

  1. NM_001278182.1NP_001265111.1  eomesodermin homolog isoform 1

    See proteins identical to 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/TrEMBL
    B7Z4K0
    UniProtKB/Swiss-Prot
    O95936
    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 ...
  2. NM_001278183.1NP_001265112.1  eomesodermin homolog isoform 3

    See proteins identical to 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
    UniProtKB/Swiss-Prot
    O95936
    Conserved Domains (1) summary
    cl00145
    Location:1165
    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 ...
  3. NM_005442.3NP_005433.2  eomesodermin homolog isoform 2

    See proteins identical to 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/TrEMBL
    B7Z4K0
    UniProtKB/Swiss-Prot
    O95936
    Related
    ENSP00000295743, OTTHUMP00000161129, ENST00000295743, OTTHUMT00000252995
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

mRNA and Protein(s)

  1. XM_005265510.1XP_005265567.1  

    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 CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    27707433..27714192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    27699819..27706575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)