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O95936 (EOMES_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Eomesodermin homolog
Alternative name(s):
T-box brain protein 2
Short name=T-brain-2
Short name=TBR-2
Gene names
Name:EOMES
Synonyms:TBR2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length686 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes. Ref.6 Ref.7

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed in CD8+ T-cells. Ref.6

Developmental stage

Detected at 7 weeks of development in the forebrain floorplate of the CNS. Expressed within the mantle layer and migrating neuroblasts of the telencephalon at 12.5 weeks of development. Ref.7

Induction

Up-regulated in CD8+ T-cells simultaneously stimulated with TGFB1 and IL4/interleukin-4. Ref.6

Involvement in disease

A translocation t(3;10)(p24;q23) located 215 kb 3' to the EOMES gene but leading to loss of its expression was identified in a large consanguineous family. Homozygous silencing produces microcephaly associated with corpus callosum agenesis, bilateral polymicrogyria, ventricular dilatation and a small cerebellum.

Sequence similarities

Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
   Biological processAdaptive immunity
Differentiation
Gastrulation
Immunity
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processCD8-positive, alpha-beta T cell differentiation involved in immune response

Inferred from mutant phenotype Ref.6. Source: UniProtKB

brain development

Inferred from mutant phenotype Ref.7. Source: UniProtKB

cardioblast differentiation

Inferred from electronic annotation. Source: Ensembl

cell differentiation involved in embryonic placenta development

Inferred from sequence or structural similarity. Source: UniProtKB

cerebral cortex neuron differentiation

Inferred from electronic annotation. Source: Ensembl

cerebral cortex regionalization

Inferred from electronic annotation. Source: Ensembl

endoderm formation

Inferred from sequence or structural similarity. Source: UniProtKB

endodermal cell fate specification

Inferred from electronic annotation. Source: Ensembl

interferon-gamma production

Inferred from electronic annotation. Source: Ensembl

mesoderm formation

Inferred from sequence or structural similarity. Source: UniProtKB

mesodermal to mesenchymal transition involved in gastrulation

Inferred from sequence or structural similarity. Source: UniProtKB

olfactory bulb development

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 20713518. Source: MGI

regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

stem cell maintenance

Inferred from electronic annotation. Source: Ensembl

trophectodermal cell differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II activating transcription factor binding

Inferred from sequence or structural similarity. Source: BHF-UCL

RNA polymerase II regulatory region sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription

Inferred from sequence or structural similarity. Source: BHF-UCL

chromatin binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding

Inferred from direct assay PubMed 20713518. Source: MGI

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95936-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O95936-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-286: Missing.
     460-460: S → SMYTASENDRLTPSPTDSPR

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 686686Eomesodermin homolog
PRO_0000184459

Regions

DNA binding276 – 456181T-box
Region571 – 686116Required for transcription activation By similarity
Compositional bias69 – 13264Ala-rich
Compositional bias194 – 26471Gly-rich

Natural variations

Alternative sequence1 – 286286Missing in isoform 2.
VSP_042161
Alternative sequence4601S → SMYTASENDRLTPSPTDSPR in isoform 2.
VSP_042162
Natural variant1201A → G.
Corresponds to variant rs12715125 [ dbSNP | Ensembl ].
VAR_059827
Natural variant6671E → Q in a breast cancer sample; somatic mutation. Ref.9
VAR_036069

Experimental info

Sequence conflict491D → G in BAA83417. Ref.1
Sequence conflict1421E → V in BAA83417. Ref.1
Sequence conflict2001V → A in BAA83417. Ref.1
Sequence conflict221 – 2222SS → IN in BAA83417. Ref.1
Sequence conflict2621G → S in BAA83417. Ref.1
Sequence conflict3371C → S in CAB37939. Ref.4
Sequence conflict4111E → EK in CAB37939. Ref.4
Sequence conflict4151E → D in CAB37939. Ref.4
Sequence conflict6611E → G in BAA83417. Ref.1
Sequence conflict6851T → S in BAA83417. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 5, 2009. Version 3.
Checksum: 1A6BA0763C5A6681

FASTA68672,732
        10         20         30         40         50         60 
MQLGEQLLVS SVNLPGAHFY PLESARGGSG GSAGHLPSAA PSPQKLDLDK ASKKFSGSLS 

        70         80         90        100        110        120 
CEAVSGEPAA ASAGAPAAML SDTDAGDAFA SAAAVAKPGP PDGRKGSPCG EEELPSAAAA 

       130        140        150        160        170        180 
AAAAAAAAAA TARYSMDSLS SERYYLQSPG PQGSELAAPC SLFPYQAAAG APHGPVYPAP 

       190        200        210        220        230        240 
NGARYPYGSM LPPGGFPAAV CPPGRAQFGP GAGAGSGAGG SSGGGGGPGT YQYSQGAPLY 

       250        260        270        280        290        300 
GPYPGAAAAG SCGGLGGLGV PGSGFRAHVY LCNRPLWLKF HRHQTEMIIT KQGRRMFPFL 

       310        320        330        340        350        360 
SFNINGLNPT AHYNVFVEVV LADPNHWRFQ GGKWVTCGKA DNNMQGNKMY VHPESPNTGS 

       370        380        390        400        410        420 
HWMRQEISFG KLKLTNNKGA NNNNTQMIVL QSLHKYQPRL HIVEVTEDGV EDLNEPSKTQ 

       430        440        450        460        470        480 
TFTFSETQFI AVTAYQNTDI TQLKIDHNPF AKGFRDNYDS SHQIVPGGRY GVQSFFPEPF 

       490        500        510        520        530        540 
VNTLPQARYY NGERTVPQTN GLLSPQQSEE VANPPQRWLV TPVQQPGTNK LDISSYESEY 

       550        560        570        580        590        600 
TSSTLLPYGI KSLPLQTSHA LGYYPDPTFP AMAGWGGRGS YQRKMAAGLP WTSRTSPTVF 

       610        620        630        640        650        660 
SEDQLSKEKV KEEIGSSWIE TPPSIKSLDS NDSGVYTSAC KRRRLSPSNS SNENSPSIKC 

       670        680 
EDINAEEYSK DTSKGMGGYY AFYTTP 

« Hide

Isoform 2 [UniParc].

Checksum: 897D0328730AD56A
Show »

FASTA41947,067

References

« Hide 'large scale' references
[1]"A novel mammalian T-box-containing gene, Tbr2, expressed in mouse developing brain."
Kimura N., Nakashima K., Ueno M., Taga T.
Brain Res. Dev. Brain Res. 115:183-193(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19."
Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A., Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.
Genomics 55:10-20(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 291-455 (ISOFORM 1).
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 297-686 (ISOFORM 1).
Tissue: Brain.
[6]"The T-box transcription factor eomesodermin controls CD8 T cell activity and lymph node metastasis in human colorectal cancer."
Atreya I., Schimanski C.C., Becker C., Wirtz S., Dornhoff H., Schnuerer E., Berger M.R., Galle P.R., Herr W., Neurath M.F.
Gut 56:1572-1578(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION.
[7]"Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis."
Baala L., Briault S., Etchevers H.C., Laumonnier F., Natiq A., Amiel J., Boddaert N., Picard C., Sbiti A., Asermouh A., Attie-Bitach T., Encha-Razavi F., Munnich A., Sefiani A., Lyonnet S.
Nat. Genet. 39:454-456(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN BRAIN DEVELOPMENT, DEVELOPMENTAL STAGE.
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-667.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB031038 mRNA. Translation: BAA83417.1.
AK297389 mRNA. Translation: BAH12568.1.
AC098614 Genomic DNA. No translation available.
AJ010280 Genomic DNA. Translation: CAB37939.1.
BC025363 mRNA. Translation: AAH25363.1.
RefSeqNP_001265111.1. NM_001278182.1.
NP_001265112.1. NM_001278183.1.
NP_005433.2. NM_005442.3.
UniGeneHs.591663.
Hs.734211.

3D structure databases

ProteinModelPortalO95936.
SMRO95936. Positions 269-455.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113916. 1 interaction.
IntActO95936. 3 interactions.
MINTMINT-8247586.
STRING9606.ENSP00000295743.

PTM databases

PhosphoSiteO95936.

Proteomic databases

PaxDbO95936.
PRIDEO95936.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295743; ENSP00000295743; ENSG00000163508. [O95936-1]
GeneID8320.
KEGGhsa:8320.
UCSCuc003cdx.4. human. [O95936-1]

Organism-specific databases

CTD8320.
GeneCardsGC03M027757.
H-InvDBHIX0030693.
HGNCHGNC:3372. EOMES.
HPAHPA028896.
MIM604615. gene.
neXtProtNX_O95936.
Orphanet171703. Microcephaly - polymicrogyria - corpus callosum agenesis.
PharmGKBPA27806.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245070.
HOGENOMHOG000218633.
HOVERGENHBG000578.
InParanoidO95936.
KOK10173.
OrthoDBEOG7GFB4D.
PhylomeDBO95936.
TreeFamTF106341.

Gene expression databases

ArrayExpressO95936.
BgeeO95936.
CleanExHS_EOMES.
GenevestigatorO95936.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiEomesodermin.
GenomeRNAi8320.
NextBio31155.
PROO95936.
SOURCESearch...

Entry information

Entry nameEOMES_HUMAN
AccessionPrimary (citable) accession number: O95936
Secondary accession number(s): B7Z4I2, Q8TAZ2, Q9UPM7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 5, 2009
Last modified: March 19, 2014
This is version 120 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM