ERG (v-ets erythroblastosis virus E26 oncogene like (avian))

Identity

Hugo	ERG
Location	21q22.2

DNA/RNA

	Top : Schematic representation of the ERG gene locus. Exons are depicted as black boxes. Bottom : Structure of alternative transcripts encoded by the ERG gene. Coding exons are shown in grey, 5' UTRs in white and 3' UTRs in black (Adapted from Owczarek et. al., Gene 2004 (324) : 65-77)..
Description	17 exons, 300kb DNA.
Transcription	There are five isoforms created by alternative splicing and alternative initiation of translation.

Protein

	The different ERG isoforms (Adapted from Duterque-Coquillaud et. al., Oncogene 1993 (8) : 1865-1873)..

Description	5 different isoforms, 38-55 kDa, all contain the ETS DNA binding domain.
Expression	ERG-3 is expressed in hematopoietic stem cells and in endothelial cells. In the GNF SymAtlas database, the major ERG expression was found to be in CD34+ cells (that include both hematopoietic stem cells and endothelial cells). ERG was also reported to be expressed in during early T and B cell development, and to be down-regulated in later stages of B and T cell differentiation. Furthemore, ERG was found to be expressed in platelets, megakaryoblastic cell lines and in primary megakaryoblastic leukemia (AMKL or M7-AML) from Down syndrome patients.
Localisation	Nuclear
Function	Transcription factor
Homology	A member of the ETS transcription factors, most homologous to FLI1:.

Mutations

Note	No known mutations.

Implicated in

Entity	Ewing Sarcoma
Hybrid/Mutated Gene	-ERG HYBRID_IMAGE
Abnormal Protein	The EWS gene fuses with the carboxy terminal of ERG containing the ets DNA binding domain of ERG.
Oncogenesis	In a transgenic mouse model expression of the EWS-ERG in lymphoid progenitors induced T-cell leukemia.
Entity	Prostate cancer
Hybrid/Mutated Gene	Fusion of the the 5' untranslated region of an androgen regulated gene TMPRSS2and all the coding region of the ERG protein.
Abnormal Protein	This translocation results in androgen dependent overexpression of ERG.
Entity	Acute myeloid leukemia (AML) and Ewing Sarcoma
Prognosis	Poorer prognosis
Hybrid/Mutated Gene	The FUS gene fuses with the carboxy terminal of ERG containing the ets DNA binding domain of ERG.
Entity	Childhood ALL with either TEL-AML1 (ETV6-RUNX1) translocation or extra copies of chromosome 21 (where ERG is located); AML with complex karyotype and AML with t(X;21)(q25-26;q22) translocation.
Note	Overexpression of ERG
Prognosis	Overexpression of ERG was reported to predict a worse outcome in acute myeloid leukemia with normal karyotype.
Oncogenesis	Overexpression of ERG in the different leukemias and in prostate cancer suggests that overexpression of the full-length ERG may be oncogenic.
Entity	AMKL: Association of ERG expression with normal and malignant megakaryocytic differentiation.
Oncogenesis	ERG was found to be expressed megakaryoblastic leukemic cell lines and in primary leukemic cells from DS patients.
Entity	ERG involvement in endothelial development.
Note	ERG has been reported to regulate genes involved in chondrogenesis and angiogenesis and functions as a modulator of endothelial cell differentiation.
Entity	ERG involvement in lymphoid development.
Note	ERG was reported to be expressed in during early T and B cell development, and to be down-regulated in later stages of B and T cell differentiation.

Breakpoints

External links

	Nomenclature
Hugo	ERG
GDB	ERG
Entrez_Gene	ERG  2078  v-ets erythroblastosis virus E26 oncogene homolog (avian)
	Cards
Atlas	ERGID53ch21q22
GeneCards	ERG
Ensembl	ERG [Search_View]   ENSG00000157554 [Gene_View]
Genatlas	ERG
GeneLynx	ERG
eGenome	ERG
euGene	2078
	Genomic and cartography
GoldenPath	ERG  -  21q22.2   chr21:38675671-38792267 -  21q22.3   [Description]    (hg18-Mar_2006)
Ensembl	ERG - 21q22.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ERG
	Gene and transcription
Genbank	AF015313 [ ENTREZ ]
Genbank	AK309469 [ ENTREZ ]
Genbank	AM392572 [ ENTREZ ]
Genbank	AY204740 [ ENTREZ ]
Genbank	AY204741 [ ENTREZ ]
RefSeq	NM_004449 [ SRS ]    NM_004449 [ ENTREZ ]
RefSeq	NM_182918 [ SRS ]    NM_182918 [ ENTREZ ]
RefSeq	AC_000064 [ SRS ]    AC_000064 [ ENTREZ ]
RefSeq	AC_000153 [ SRS ]    AC_000153 [ ENTREZ ]
RefSeq	NC_000021 [ SRS ]    NC_000021 [ ENTREZ ]
RefSeq	NT_011512 [ SRS ]    NT_011512 [ ENTREZ ]
RefSeq	NW_001838708 [ SRS ]    NW_001838708 [ ENTREZ ]
RefSeq	NW_927384 [ SRS ]    NW_927384 [ ENTREZ ]
AceView	ERG AceView - NCBI
Unigene	Hs.473819 [ SRS ]    Hs.473819 [ NCBI ]     HS473819 [ spliceNest ]
Fast-db	2820 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P11308 [ SRS]    P11308 [ EXPASY ]     P11308 [ INTERPRO ]
Prosite	PS00345 ETS_DOMAIN_1 [ SRS ]    PS00345 ETS_DOMAIN_1 [ Expasy ]
Prosite	PS00346 ETS_DOMAIN_2 [ SRS ]    PS00346 ETS_DOMAIN_2 [ Expasy ]
Prosite	PS50061 ETS_DOMAIN_3 [ SRS ]    PS50061 ETS_DOMAIN_3 [ Expasy ]
Interpro	IPR000418 Ets [ SRS ]    IPR000418 Ets [ EBI ]
Interpro	IPR003118 SAM_PNT [ SRS ]    IPR003118 SAM_PNT [ EBI ]
Interpro	IPR011991 Wing_hlx_DNA_bd [ SRS ]    IPR011991 Wing_hlx_DNA_bd [ EBI ]
CluSTr	P11308
Pfam	PF00178 Ets [ SRS ]    PF00178 Ets [ Sanger ]    pfam00178 [ NCBI-CDD ]
Pfam	PF02198 SAM_PNT [ SRS ]    PF02198 SAM_PNT [ Sanger ]    pfam02198 [ NCBI-CDD ]
Smart	SM00413 ETS [EMBL]
Smart	SM00251 SAM_PNT [EMBL]
Blocks	P11308
PDB	ERG [ SRS ]    ERG [ PdbSum ],   ERG [ IMB ]   ERG [ RSDB ]
HPRD	01298
	Protein Interaction databases
DIP	P11308
IntAct	P11308
	Polymorphism : SNP, mutations, diseases
OMIM	165080    [ map ]
GENECLINICS	165080
SNP	ERG [dbSNP-NCBI]
SNP	NM_004449 [SNP-NCI]
SNP	NM_182918 [SNP-NCI]
SNP	ERG [GeneSNPs - Utah]  ERG] [HGBASE - SRS]
HAPMAP	ERG [HAPMAP]
COSMIC	ERG [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	ERG [Translocation breakpoints In Cancer]
HGMD	ERG
	General knowledge
Family Browser	ERG [UCSC Family Browser]
SOURCE	NM_004449
SOURCE	NM_182918
SMD	Hs.473819
SAGE	Hs.473819
GO	transcription factor activity [Amigo]  transcription factor activity
GO	signal transducer activity [Amigo]  signal transducer activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	protein amino acid phosphorylation [Amigo]  protein amino acid phosphorylation
GO	signal transduction [Amigo]  signal transduction
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	cell proliferation [Amigo]  cell proliferation
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
PubGene	ERG
TreeFam	ERG
CTD	2078 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	ERG Related clones (RZPD - Berlin)
	PubMed
PubMed	47 Pubmed reference(s) in LocusLink

Bibliography

New human erg isoforms generated by alternative splicing are transcriptional activators.

Duterque-Coquillaud M, Niel C, Plaza S, Stehelin D

Oncogene. 1993 ; 8 (7) : 1865-1873.

PMID 8510931

EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations.

Giovannini M, Biegel JA, Serra M, Wang JY, Wei YH, Nycum L, Emanuel BS, Evans GA

The Journal of clinical investigation. 1994 ; 94 (2) : 489-496.

PMID 8040301

Consistent detection of TLS/FUS-ERG chimeric transcripts in acute myeloid leukemia with t(16;21)(p11;q22) and identification of a novel transcript.

Kong XT, Ida K, Ichikawa H, Shimizu K, Ohki M, Maseki N, Kaneko Y, Sako M, Kobayashi Y, Tojou A, Miura I, Kakuda H, Funabiki T, Horibe K, Hamaguchi H, Akiyama Y, Bessho F, Yanagisawa M, Hayashi Y

Blood. 1997 ; 90 (3) : 1192-1199.

PMID 9242552

Selective expression of erg isoforms in human endothelial cells.

Hewett PW, Nishi K, Daft EL, Clifford Murray J

The international journal of biochemistry & cell biology. 2001 ; 33 (4) : 347-355.

PMID 11312105

The role of ERG (ets related gene) in cartilage development.

Iwamoto M, Higuchi Y, Enomoto-Iwamoto M, Kurisu K, Koyama E, Yeh H, Rosenbloom J, Pacifici M

Osteoarthritis and cartilage / OARS, Osteoarthritis Research Society. 2001 ; 9 Suppl A : S41-S47.

PMID 11680687

Combined genomic and antisense analysis reveals that the transcription factor Erg is implicated in endothelial cell differentiation.

McLaughlin F, Ludbrook VJ, Cox J, von Carlowitz I, Brown S, Randi AM

Blood. 2001 ; 98 (12) : 3332-3339.

PMID 11719371

Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling.

Yeoh EJ, Ross ME, Shurtleff SA, Williams WK, Patel D, Mahfouz R, Behm FG, Raimondi SC, Relling MV, Patel A, Cheng C, Campana D, Wilkins D, Zhou X, Li J, Liu H, Pui CH, Evans WE, Naeve C, Wong L, Downing JR

Cancer cell. 2002 ; 1 (2) : 133-143.

PMID 12086872

Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes.

Baldus CD, Liyanarachchi S, Mrˆ„zek K, Auer H, Tanner SM, Guimond M, Ruppert AS, Mohamed N, Davuluri RV, Caligiuri MA, Bloomfield CD, de la Chapelle A

Proceedings of the National Academy of Sciences of the United States of America. 2004 ; 101 (11) : 3915-3920.

PMID 15007164

Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16.

Owczarek CM, Portbury KJ, Hardy MP, O'Leary DA, Kudoh J, Shibuya K, Shimizu N, Kola I, Hertzog PJ

Gene. 2004 ; 324 : 65-77.

PMID 14693372

Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study.

Marcucci G, Baldus CD, Ruppert AS, Radmacher MD, Mrˆ„zek K, Whitman SP, Kolitz JE, Edwards CG, Vardiman JW, Powell BL, Baer MR, Moore JO, Perrotti D, Caligiuri MA, Carroll AJ, Larson RA, de la Chapelle A, Bloomfield CD

Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2005 ; 23 (36) : 9234-9242.

PMID 16275934

The proto-oncogene ERG in megakaryoblastic leukemias.

Rainis L, Toki T, Pimanda JE, Rosenthal E, Machol K, Strehl S, Gˆ�ttgens B, Ito E, Izraeli S

Cancer research. 2005 ; 65 (17) : 7596-7602.

PMID 16140924

Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer.

Tomlins SA, Rhodes DR, Perner S, Dhanasekaran SM, Mehra R, Sun XW, Varambally S, Cao X, Tchinda J, Kuefer R, Lee C, Montie JE, Shah RB, Pienta KJ, Rubin MA, Chinnaiyan AM

Science (New York, N.Y.). 2005 ; 310 (5748) : 644-648.

PMID 16254181

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression.

van Zelm MC, van der Burg M, de Ridder D, Barendregt BH, de Haas EF, Reinders MJ, Lankester AC, Rˆ©vˆ©sz T, Staal FJ, van Dongen JJ

Journal of immunology (Baltimore, Md. : 1950). 2005 ; 175 (9) : 5912-5922.

PMID 16237084

At the crossroads: diverse roles of early thymocyte transcriptional regulators.

Anderson MK

Immunological reviews. 2006 ; 209 : 191-211.

PMID 16448544

ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).

Moore SD, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P

Leukemia research. 2006 ; 30 (8) : 1037-1042.

PMID 16303180

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Last year publications	automatic search in PubMed

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Contributor(s)

Written	08-2006	Liat Rainis-Ganon, Shai Izraeli
		Head, Research section, Pediatric Hemato-Oncology, Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel 52621

Citation

This paper should be referenced as such :

Rainis-Ganon L, Izraeli S . ERG (v-ets erythroblastosis virus E26 oncogene like (avian)). Atlas Genet Cytogenet Oncol Haematol. August 2006 . URL : http://AtlasGeneticsOncology.org/Genes/ERGID53ch21q22.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 17:44:11 2008