Human Gene ERG (ENST00000398911.5) Description and Page Index
  Description: Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure. (from UniProt P11308)
RefSeq Summary (NM_004449): This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014].
Gencode Transcript: ENST00000398911.5
Gencode Gene: ENSG00000157554.19
Transcript (Including UTRs)
   Position: hg38 chr21:38,380,027-38,584,945 Size: 204,919 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr21:38,383,403-38,575,700 Size: 192,298 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:38,380,027-38,584,945)mRNA (may differ from genome)Protein (462 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIneXtProtPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ERG_HUMAN
DESCRIPTION: RecName: Full=Transcriptional regulator ERG; AltName: Full=Transforming protein ERG;
FUNCTION: Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.
SUBUNIT: Interacts with SETDB1 (By similarity). Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs.
INTERACTION: P10275:AR; NbExp=2; IntAct=EBI-79704, EBI-608057; P09874:PARP1; NbExp=7; IntAct=EBI-79704, EBI-355676;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
DISEASE: Defects in ERG are a cause of Ewing sarcoma (ES) [MIM:612219]. A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. Note=A chromosomal aberration involving ERG is found in patients with Erwing sarcoma. Translocation t(21;22)(q22;q12) with EWSR1.
DISEASE: Note=Chromosomal aberrations involving ERG have been found in acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with FUS. Translocation t(X;21)(q25-26;q22) with ELF4.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ERGID53ch21q22.html";

-  MalaCards Disease Associations
  MalaCards Gene Search: ERG
Diseases sorted by gene-association score: extraskeletal ewing sarcoma* (202), ewing sarcoma* (151), myeloid leukemia (11), sarcoma (6), prostate cancer (5), myxoid liposarcoma (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.75 RPKM in Artery - Aorta
Total median expression: 175.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.70149-0.253 Picture PostScript Text
3' UTR -927.653376-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000418 - Ets
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1SXE
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on P11308
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0003197 endocardial cushion development
GO:0003199 endocardial cushion to mesenchymal transition involved in heart valve formation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0008283 cell proliferation
GO:0016477 cell migration
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:2000504 positive regulation of blood vessel remodeling

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  AY204741 - Homo sapiens Ets-related protein isoform 7 (ERG) mRNA, complete cds.
AH001456 - Homo sapiens erg1 protein mRNA, complete cds.
M17254 - Human erg2 gene encoding erg2 protein, complete cds.
BC040168 - Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian), mRNA (cDNA clone MGC:49020 IMAGE:6052140), complete cds.
AK300395 - Homo sapiens cDNA FLJ50676 complete cds, highly similar to Transcriptional regulator ERG.
AK303518 - Homo sapiens cDNA FLJ52381 complete cds, highly similar to Transcriptional regulator ERG.
AK309469 - Homo sapiens cDNA, FLJ99510.
AK297807 - Homo sapiens cDNA FLJ60726 complete cds, highly similar to Transcriptional regulator ERG.
AK301277 - Homo sapiens cDNA FLJ52282 complete cds, highly similar to Transcriptional regulator ERG.
KP100545 - Homo sapiens erythroblast transformation-specific transcription factor ERG variant 10 (ERG) mRNA, complete cds.
KJ896785 - Synthetic construct Homo sapiens clone ccsbBroadEn_06179 ERG gene, encodes complete protein.
EU446470 - Synthetic construct Homo sapiens clone IMAGE:100070357; IMAGE:100011679; FLH257200.01L v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG) gene, encodes complete protein.
AB489170 - Synthetic construct DNA, clone: pF1KB8348, Homo sapiens ERG gene for v-ets erythroblastosis virus E26 oncogene homolog, without stop codon, in Flexi system.
AM392572 - Synthetic construct Homo sapiens clone IMAGE:100002226 for hypothetical protein (ERG gene).
AK304662 - Homo sapiens cDNA FLJ50405 complete cds, highly similar to Transcriptional regulator ERG.
CU691828 - Synthetic construct Homo sapiens gateway clone IMAGE:100021181 5' read ERG mRNA.
EU432099 - Homo sapiens TMPRSS2-ERG prostate cancer specific isoform 1 (ERG) mRNA, complete cds, alternatively spliced.
AY204742 - Homo sapiens Ets-related protein isoform 8 (ERG) mRNA, complete cds.
AH005535 - Homo sapiens p55 (erg) mRNA, partial cds.
DQ831521 - Homo sapiens TMPRSS2/ERG fusion mRNA, partial sequence.
FJ627787 - Homo sapiens NDRG1-ERG fusion protein variant 2 (NDRG1-ERG fusion) mRNA, partial cds.
FJ627786 - Homo sapiens NDRG1-ERG fusion protein variant 1 (NDRG1-ERG fusion) mRNA, partial cds.
EF194202 - Homo sapiens TMPRSS2/ERG fusion mRNA, partial sequence.
EU090248 - Homo sapiens TMPRSS2/ERG fusion mRNA, partial sequence.
DQ831522 - Homo sapiens TMPRSS2/ERG fusion mRNA, partial sequence.
AY204740 - Homo sapiens Ets-related protein isoform 6 (ERG) mRNA, complete sequence.
S72865 - EWS...EWS-erg=EWS-erg fusion protein type 9e [human, SK-PN-LI cell line, mRNA Partial Mutant, 3 genes, 588 nt].
S72621 - EWS...erg {translocation, type 1e and 9e} [human, SK-PN-LI cell line, mRNA Partial Mutant, 3 genes, 762 nt].
AX426969 - Sequence 5305 from Patent WO0188124.
AX426971 - Sequence 5307 from Patent WO0188124.
AX426970 - Sequence 5306 from Patent WO0188124.
S77574 - TLS...ERG {translocation} [human, acute non-lymphocytic leukemia cell lines IRTA17 and IRTA21, mRNA Partial, 3 genes, 211 nt].
KY081289 - Homo sapiens FUS/ERG fusion protein mRNA, partial cds.
KY081290 - Homo sapiens FUS/ERG fusion protein mRNA, partial cds.
U17630 - Human chromosome 21, Down syndrome critical region transcript, SP6 end of clone 5-3-g10.
AX426958 - Sequence 5294 from Patent WO0188124.
AX426967 - Sequence 5303 from Patent WO0188124.
AX426966 - Sequence 5302 from Patent WO0188124.
AX426965 - Sequence 5301 from Patent WO0188124.
AX426959 - Sequence 5295 from Patent WO0188124.
AX426964 - Sequence 5300 from Patent WO0188124.
AX426960 - Sequence 5296 from Patent WO0188124.
AX426961 - Sequence 5297 from Patent WO0188124.
AX426963 - Sequence 5299 from Patent WO0188124.
AX426968 - Sequence 5304 from Patent WO0188124.
AX426957 - Sequence 5293 from Patent WO0188124.
AX426954 - Sequence 5290 from Patent WO0188124.
AX426953 - Sequence 5289 from Patent WO0188124.
AX426962 - Sequence 5298 from Patent WO0188124.
AX426956 - Sequence 5292 from Patent WO0188124.
AX426952 - Sequence 5288 from Patent WO0188124.
AX426955 - Sequence 5291 from Patent WO0188124.
DQ204772 - Homo sapiens TMPRSS2/ERGa fusion transcript.
CQ873853 - Sequence 272 from Patent WO2004076622.
DD413690 - Regulation of Mammalian Cells.
FJ423744 - Homo sapiens TMPRSS2/ERG fusion mRNA, partial sequence.
DQ204773 - Homo sapiens TMPRSS2/ERGb fusion transcript.
AY204743 - Homo sapiens Ets-related protein isoform 9 (ERG) mRNA, 5' untranslated region.

-  Other Names for This Gene
  Alternate Gene Symbols: AH001456, B4DTW5, B4E0T4, ENST00000398911.1, ENST00000398911.2, ENST00000398911.3, ENST00000398911.4, ERG_HUMAN, P11308, Q16113, Q6XXX4, Q6XXX5, Q8IXK9, uc062acf.1
UCSC ID: ENST00000398911.5
RefSeq Accession: NM_004449
Protein: P11308 (aka ERG_HUMAN)
CCDS: CCDS13657.1, CCDS46648.1, CCDS82674.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.