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Protein

Eomesodermin homolog

Gene

EOMES

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi276 – 456T-boxPROSITE-ProRule annotationAdd BLAST181

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processAdaptive immunity, Differentiation, Gastrulation, Immunity, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Eomesodermin homolog
Alternative name(s):
T-box brain protein 2
Short name:
T-brain-2
Short name:
TBR-2
Gene namesi
Name:EOMES
Synonyms:TBR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163508.12.
HGNCiHGNC:3372. EOMES.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Organism-specific databases

DisGeNETi8320.
MalaCardsiEOMES.
OpenTargetsiENSG00000163508.
Orphaneti171703. Microcephaly - polymicrogyria - corpus callosum agenesis.
PharmGKBiPA27806.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844591 – 686Eomesodermin homologAdd BLAST686

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei107PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95936.
MaxQBiO95936.
PaxDbiO95936.
PeptideAtlasiO95936.
PRIDEiO95936.

PTM databases

iPTMnetiO95936.
PhosphoSitePlusiO95936.

Expressioni

Tissue specificityi

Expressed in CD8+ T-cells.1 Publication

Developmental stagei

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.1 Publication

Inductioni

Up-regulated in CD8+ T-cells simultaneously stimulated with TGFB1 and IL4/interleukin-4.1 Publication

Gene expression databases

BgeeiENSG00000163508.
CleanExiHS_EOMES.
GenevisibleiO95936. HS.

Organism-specific databases

HPAiHPA028896.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113916. 1 interactor.
IntActiO95936. 3 interactors.
MINTiMINT-8247586.
STRINGi9606.ENSP00000295743.

Structurei

3D structure databases

ProteinModelPortaliO95936.
SMRiO95936.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni571 – 686Required for transcription activationBy similarityAdd BLAST116

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi69 – 132Ala-richAdd BLAST64
Compositional biasi194 – 264Gly-richAdd BLAST71

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00740000115029.
HOGENOMiHOG000218633.
HOVERGENiHBG000578.
InParanoidiO95936.
KOiK10173.
OMAiQPFFQDQ.
OrthoDBiEOG091G0PQQ.
PhylomeDBiO95936.
TreeFamiTF106341.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
Gene3Di2.60.40.820. 1 hit.
InterProiView protein in InterPro
IPR008967. p53-like_TF_DNA-bd.
IPR032385. T-box_assoc.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiView protein in Pfam
PF00907. T-box. 1 hit.
PF16176. T-box_assoc. 1 hit.
PRINTSiPR00937. TBOX.
SMARTiView protein in SMART
SM00425. TBOX. 1 hit.
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiView protein in PROSITE
PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95936-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MQLGEQLLVS SVNLPGAHFY PLESARGGSG GSAGHLPSAA PSPQKLDLDK
60 70 80 90 100
ASKKFSGSLS CEAVSGEPAA ASAGAPAAML SDTDAGDAFA SAAAVAKPGP
110 120 130 140 150
PDGRKGSPCG EEELPSAAAA AAAAAAAAAA TARYSMDSLS SERYYLQSPG
160 170 180 190 200
PQGSELAAPC SLFPYQAAAG APHGPVYPAP NGARYPYGSM LPPGGFPAAV
210 220 230 240 250
CPPGRAQFGP GAGAGSGAGG SSGGGGGPGT YQYSQGAPLY GPYPGAAAAG
260 270 280 290 300
SCGGLGGLGV PGSGFRAHVY LCNRPLWLKF HRHQTEMIIT KQGRRMFPFL
310 320 330 340 350
SFNINGLNPT AHYNVFVEVV LADPNHWRFQ GGKWVTCGKA DNNMQGNKMY
360 370 380 390 400
VHPESPNTGS HWMRQEISFG KLKLTNNKGA NNNNTQMIVL QSLHKYQPRL
410 420 430 440 450
HIVEVTEDGV EDLNEPSKTQ TFTFSETQFI AVTAYQNTDI TQLKIDHNPF
460 470 480 490 500
AKGFRDNYDS SHQIVPGGRY GVQSFFPEPF VNTLPQARYY NGERTVPQTN
510 520 530 540 550
GLLSPQQSEE VANPPQRWLV TPVQQPGTNK LDISSYESEY TSSTLLPYGI
560 570 580 590 600
KSLPLQTSHA LGYYPDPTFP AMAGWGGRGS YQRKMAAGLP WTSRTSPTVF
610 620 630 640 650
SEDQLSKEKV KEEIGSSWIE TPPSIKSLDS NDSGVYTSAC KRRRLSPSNS
660 670 680
SNENSPSIKC EDINAEEYSK DTSKGMGGYY AFYTTP
Length:686
Mass (Da):72,732
Last modified:May 5, 2009 - v3
Checksum:i1A6BA0763C5A6681
GO
Isoform 2 (identifier: O95936-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available. Dubious isoform produced through aberrant splice sites.
Show »
Length:419
Mass (Da):47,067
Checksum:i897D0328730AD56A
GO
Isoform 3 (identifier: O95936-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-295: Missing.
     460-460: S → SMYTASENDRLTPSPTDSPR

Note: No experimental confirmation available.
Show »
Length:410
Mass (Da):45,983
Checksum:iC554C4DCAC576159
GO
Isoform 4 (identifier: O95936-4) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:705
Mass (Da):74,852
Checksum:i2C8A126637970969
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti49D → G in BAA83417 (PubMed:10407135).Curated1
Sequence conflicti142E → V in BAA83417 (PubMed:10407135).Curated1
Sequence conflicti200V → A in BAA83417 (PubMed:10407135).Curated1
Sequence conflicti221 – 222SS → IN in BAA83417 (PubMed:10407135).Curated2
Sequence conflicti262G → S in BAA83417 (PubMed:10407135).Curated1
Sequence conflicti337C → S in CAB37939 (PubMed:9888994).Curated1
Sequence conflicti411E → EK in CAB37939 (PubMed:9888994).Curated1
Sequence conflicti415E → D in CAB37939 (PubMed:9888994).Curated1
Sequence conflicti661E → G in BAA83417 (PubMed:10407135).Curated1
Sequence conflicti685T → S in BAA83417 (PubMed:10407135).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059827120A → G. Corresponds to variant dbSNP:rs12715125Ensembl.1
Natural variantiVAR_036069667E → Q in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0548011 – 295Missing in isoform 3. 1 PublicationAdd BLAST295
Alternative sequenceiVSP_0421611 – 286Missing in isoform 2. 1 PublicationAdd BLAST286
Alternative sequenceiVSP_042162460S → SMYTASENDRLTPSPTDSPR in isoform 2, isoform 3 and isoform 4. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB031038 mRNA. Translation: BAA83417.1.
AK297389 mRNA. Translation: BAH12568.1.
AK316166 mRNA. Translation: BAH14537.1.
AB463608 mRNA. No translation available.
AC098614 Genomic DNA. Translation: BAG73121.1.
CH471055 Genomic DNA. Translation: EAW64388.1.
AJ010280 Genomic DNA. Translation: CAB37939.1.
BC025363 mRNA. Translation: AAH25363.1.
CCDSiCCDS2646.1. [O95936-1]
CCDS63584.1. [O95936-3]
CCDS63585.1. [O95936-4]
RefSeqiNP_001265111.1. NM_001278182.1. [O95936-4]
NP_001265112.1. NM_001278183.1. [O95936-3]
NP_005433.2. NM_005442.3. [O95936-1]
UniGeneiHs.591663.
Hs.734211.

Genome annotation databases

EnsembliENST00000295743; ENSP00000295743; ENSG00000163508. [O95936-1]
ENST00000449599; ENSP00000388620; ENSG00000163508. [O95936-4]
ENST00000461503; ENSP00000487112; ENSG00000163508. [O95936-3]
GeneIDi8320.
KEGGihsa:8320.
UCSCiuc003cdx.5. human. [O95936-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEOMES_HUMAN
AccessioniPrimary (citable) accession number: O95936
Secondary accession number(s): B7Z4I2
, B7ZA51, G3XAI5, Q8TAZ2, Q9UPM7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 5, 2009
Last modified: September 27, 2017
This is version 147 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot