Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Written2010-11Roopika Menon, Martin Braun, Sven Perner
Institute of Pathology, University Hospital Tuebingen, Liebermeisterstr. 8, D-72076 Tuebingen, Germany
This article is an update of :
2006-08Liat Rainis-Ganon, Shai Izraeli
Head, Research section, Pediatric Hemato-Oncology, Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel 52621

(Note : for Links provided by Atlas : click)


Alias (NCBI)erg-3
HGNC Alias symberg-3
HGNC Alias nametranscriptional regulator ERG (transforming protein ERG)
 v-ets erythroblastosis virus E26 oncogene like
 TMPRSS2-ERG prostate cancer specific
 ETS-related gene
HGNC Previous namev-ets avian erythroblastosis virus E26 oncogene related
 v-ets avian erythroblastosis virus E26 oncogene homolog
LocusID (NCBI) 2078
Atlas_Id 53
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 38380036 and ends at 38498477 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ERG.png]
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DUX4 (4q35.2)::ERG (21q22.2)ELF4 (Xq26.1)::ERG (21q22.2)ELK4 (1q32.1)::ERG (21q22.2)
ERG (21q22.2)::BZW2 (7p21.1)ERG (21q22.2)::CIDEC (3p25.3)ERG (21q22.2)::DUX4 (-)
ERG (21q22.2)::DUX4 (4q35.2)ERG (21q22.2)::DYRK1A (21q22.13)ERG (21q22.2)::ELF4 (Xq26.1)
ERG (21q22.2)::ERG (21q22.2)ERG (21q22.2)::EWSR1 (22q12.2)ERG (21q22.2)::FUS (16p11.2)
ERG (21q22.2)::GMPR (6p22.3)ERG (21q22.2)::HERPUD1 (16q13)ERG (21q22.2)::KCNJ6 (21q22.13)
ERG (21q22.2)::NDRG1 (8q24.22)ERG (21q22.2)::TMPRSS2 (21q22.3)ERG (21q22.2)::ZNRF3 (22q12.1)
ETS2 (21q22.2)::ERG (21q22.2)ETV1 (7p21.2)::ERG (21q22.2)EWSR1 (22q12.2)::ERG (21q22.2)
FUS (16p11.2)::ERG (21q22.2)HERPUD1 (16q13)::ERG (21q22.2)HNRNPH1 (5q35.3)::ERG (21q22.2)
NDRG1 (8q24.22)::ERG (21q22.2)PAK1 (11q13.5)::ERG (21q22.2)PRKAB2 (1q21.1)::ERG (21q22.2)
SLC45A3 (1q32.1)::ERG (21q22.2)SMG6 (17p13.3)::ERG (21q22.2)TMPRSS2 (21q22.3)::ERG (21q22.2)


  ERG gene locus on the q-arm of chromosome 21 (21q22.2) spanning from 39751949 to 40033704 (according to UCSC genome browser, Feb. 2009 GRCh37/hg19, and Ensemble, Aug. 2010).
Description The ERG gene belongs to the erythroblast transformation-specific (ETS) family of transcriptions factors. The ERG gene (ETS related gene 1) is located on chromosome 21, and consists of 17 exons, approximately 300 kb DNA in length.
Transcription The ERG gene forms 20 known transcripts (ranging from 560 to 5034 bp in length), amongst which 15 are coding for proteins, and 5 are non-coding. 8 alternative splice variants are known.
Pseudogene No observed pseudogenes.


Description Amongst the 20 known transcripts of the ERG gene, 15 are protein coding. The 15 proteins range from 171 to 486 amino acids in length, and up to 55 kDa in weight.
Expression On the protein level, ERG is mainly expressed in the nucleus and is rarely seen in the cytoplasm. Basically, in the GNF SymAtlas database, major ERG expression was found to be in CD34+ cells (that include both hematopoietic stem cells and endothelial cells). In detail, ERG is reported to be expressed during early T and B cell development, and down-regulated in later stages of B and T cell differentiation. Also, ERG is expressed in platelets, megakaryoblastic cell lines, primary megakaryoblastic leukemia (AMKL or M7-AML) in Down syndrome patients. Furthermore, ERG is strongly expressed in ERG gene rearranged prostate tissue (both in prostatic cancer tissue and adjacent prostatic intraepithelial neoplasia lesions). Of note, using immunohistochemistry, ERG expression is regularly observed in lymphocytes and small blood vessels.
Localisation Predominantely nuclear and rarely cytoplasmic.
Function The ERG protein is a member of the ETS-family and is known to bind to purine-rich sequences. ERG and other members of the same family are downstream regulators of mitogenic signal transduction pathways. They are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. At the DNA level, isoforms of ERG are known to regulate methylation. Further, ERG is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. Moreover, hematopoesis, as well as the differentiation and maturation of megakaryocytic cells are regulated by ERG. Overexpression of the ERG protein is suggested to aid in forming solid tumors. However, the exact molecular mechanisms of ERG as a transcription factor are still unknown.
Homology A member of the ETS transcription factors, most homologous to FLI1.


Note No known mutations.

Implicated in

Entity Ewing's sarcoma
Prognosis The prognostic relevance of an ERG gene fusion or an ERG overexpression in Ewing's sarcoma (EWS-ETS fusion type) is yet to be determined. So far, no prognostic relevance could be shown.
Hybrid/Mutated Gene If a gene fusion occurs in Ewing's sarcoma, most frequently it is a fusion of EWS to FLI-1 (in app. 85% of cases) or ERG (in app. 10% of cases). Other ETS genes rarely serve as EWS gene fusion partners (in app. 5% of cases).
Abnormal Protein The EWS gene fuses with the carboxyl terminal of ERG containing the ETS DNA binding domain of ERG. Therefore, the resulting fusion protein deregulates a large number of genes by so far poorly defined mechanisms.
Oncogenesis In a transgenic mouse model expression of the EWS-ERG in lymphoid progenitors induced T-cell leukemia.
Entity Acute myeloid leukemia (AML)
Prognosis Several studies suggest a poorer prognosis for FUS-ERG gene fusion positive AML as compared to non-fused AML. Moreover, an ERG overexpression, not necessarily due to the FUS-ERG gene fusion, predicts an increased relapse risk and shorter survival in AML patients. However, the exact contribution of ERG overexpression to myeloid leukemiogenesis and progression is still unknown.
Hybrid/Mutated Gene In the FUS-ERG gene fusion, the FUS gene fuses with the carboxyl terminal of ERG containing the ETS DNA binding domain of ERG. Of note, in a single case, a gene fusion of ERG with the myeloid ELF-like factor 1 (ELF4) was detected.
Oncogenesis The FUS-ERG fusion protein helps in activating the oncogenic activity of transcription factors.
Entity Prostate cancer
Prognosis The body of literature is controversial about the prognostic relevance of ERG rearrangements in prostate cancer. Some studies reported an association of the ERG rearrangement with adverse clinical parameters (i.e. time to prostate cancer specific death and the development of hormone-refractory metastasis). On the other hand, some studies demonstrated an association of ERG rearrangement with parameters of more favourable outcome, such as lower Gleason score, stage, volume, better overall survival, or late biochemical recurrence. Interestingly, a subset of studies without any such association was reported as well.
Hybrid/Mutated Gene In approximately 50% of prostate cancers, the ERG gene is rearranged, i.e. fused to another gene. In case of a rearrangement, TMPRSS2 is the ERG 5' fusion partner in the vast majority of cases (app. 85%). Other known, but rarely occurring ERG fusion partners include NDRG1, SLC45A3, and HERPUD1. The ERG gene rearrangement either occurs due to a deletion, or an insertion.
Schematic displaying ERG rearrangement status (via FISH) in prostate cancer. The red-labelled centromeric and the green-labelled telomeric probes span the ERG locus on chromosomes 21. If a break-apart occurs, the green signal is either lost (ERG rearrangement through deletion) or translocated (ERG rearrangement through insertion). An ERG break-apart as determined by FISH accounts for a fusion of ERG mainly with TMPRSS2 but also with other 5' fusion partners such as SLC45A3, HERPUD1, or NDRG1. A: Both alleles with wild type (wt) ERG. B: One allele with ERG rearrangement through deletion (single red signal) and the other allele with wt ERG (yellow signal). C: One allele with ERG rearrangement through insertion (separated red and green signal) and the other allele with wt ERG (yellow signal).
Abnormal Protein An ERG gene rearrangement in prostate cancer mainly results in an androgen dependant ERG overexpression.
Oncogenesis In-vitro models complement that over expression of truncated ERG and various TMPRSS2-ERG isoforms increase cell migration and invasion. In-vivo recapitulation of ETS fusions by prostate specific expression of truncated ERG in mice resulted in the development of PIN but not carcinoma. Subsequent work on transgenic TMPRSS2-ERG mice develop PIN progressing to invasive cancer, but only in the context of PI3-kinase pathway activation. TMPRSS2-ERG-positive human tumors are also enriched for PTEN loss, suggesting cooperation in prostate tumorigenesis.
Entity Acute lymphoblastic leukemia (ALL)
Prognosis Overexpression of ERG was shown to be a risk factor in adult T-ALL. ALL patients with ERG overexpression were four times more likely to fail long-term recurrence free survival, indicating inferior survival.
Oncogenesis Studies assessing ERG overexpression in ALL have shown that due to the involvement of ERG in T-cell development, it may have an oncogenic potential.
Entity Acute megakaryoblastic leukemia (AMKL)
Prognosis Even though ERG is highly considered to be oncogenic in AMKL, no prognostic relevance has been determined.
Oncogenesis ERG was found to be expressed megakaryoblastic leukemic cell lines and in primary leukemic cells from DS patients. Moreover, in mouse models, expression of ERG drove megakaryopoiesis and lead to a rapid development of aggressive leukemia.
Entity Alzheimer's disease (AD)
Note ERG has been linked to AD, due to an ERG protein overexpression as compared to control patients. This is further supported by experiments conducted on patients suffering from Down syndrome, who gradually develop AD-like symptoms, linked to ERG overexpression.
Entity Down syndrome (DS)
Note DS is associated with trisomy of the chromosome 21, where the ERG gene is located. The trisomy is considered to be responsible for an ERG overexpression. In a DS mouse model, an induced functional disomy of the ERG allele corrects some pathologic features of the disease, including myeloproliferation and progenitor cell expansion, suggesting a pathogenic effect of trisomy driven ERG overexpression.
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. In an in-vitro study, the decrease of the ERG protein follows a reduction in endothelial cell proliferation and vascular tube formation. In human umbilical vein endothelial cell lines, vascular endothelial growth factor (VEGF) was seen to significantly up-regulate ERG expression. Controversially, on the other hand, ERG expression was shown to inhibit responsiveness to the VEGF receptor in a Down Syndrome mouse model.
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. In detail, the ERG protein modulates the maturation of lymphoid cells. Interestingly, ERG overexpression is associated with T-ALL.




At the crossroads: diverse roles of early thymocyte transcriptional regulators.
Anderson MK.
Immunol Rev. 2006 Feb;209:191-211. (REVIEW)
PMID 16448544
High expression of the ETS transcription factor ERG predicts adverse outcome in acute T-lymphoblastic leukemia in adults.
Baldus CD, Burmeister T, Martus P, Schwartz S, Gokbuget N, Bloomfield CD, Hoelzer D, Thiel E, Hofmann WK.
J Clin Oncol. 2006 Oct 10;24(29):4714-20. Epub 2006 Sep 5.
PMID 16954520
Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes.
Baldus CD, Liyanarachchi S, Mrozek K, Auer H, Tanner SM, Guimond M, Ruppert AS, Mohamed N, Davuluri RV, Caligiuri MA, Bloomfield CD, de la Chapelle A.
Proc Natl Acad Sci U S A. 2004 Mar 16;101(11):3915-20. Epub 2004 Mar 8.
PMID 15007164
Prostate cancer genes associated with TMPRSS2-ERG gene fusion and prognostic of biochemical recurrence in multiple cohorts.
Barwick BG, Abramovitz M, Kodani M, Moreno CS, Nam R, Tang W, Bouzyk M, Seth A, Leyland-Jones B.
Br J Cancer. 2010 Feb 2;102(3):570-6. Epub 2010 Jan 12.
PMID 20068566
Expression of the androgen-regulated fusion gene TMPRSS2-ERG does not predict response to endocrine treatment in hormone-naive, node-positive prostate cancer.
Boormans JL, Hermans KG, Made AC, van Leenders GJ, Wildhagen MF, Collette L, Schroder FH, Trapman J, Verhagen PC.
Eur Urol. 2010 May;57(5):830-5. Epub 2009 Aug 22.
PMID 19716227
Aberrant ERG expression cooperates with loss of PTEN to promote cancer progression in the prostate.
Carver BS, Tran J, Gopalan A, Chen Z, Shaikh S, Carracedo A, Alimonti A, Nardella C, Varmeh S, Scardino PT, Cordon-Cardo C, Gerald W, Pandolfi PP.
Nat Genet. 2009 May;41(5):619-24. Epub 2009 Apr 26.
PMID 19396168
The role of microRNA-196a and microRNA-196b as ERG regulators in acute myeloid leukemia and acute T-lymphoblastic leukemia.
Coskun E, von der Heide EK, Schlee C, Kuhnl A, Gokbuget N, Hoelzer D, Hofmann WK, Thiel E, Baldus CD.
Leuk Res. 2010 Jun 4. [Epub ahead of print]
PMID 20570349
Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.
De Vita S, Canzonetta C, Mulligan C, Delom F, Groet J, Baldo C, Vanes L, Dagna-Bricarelli F, Hoischen A, Veltman J, Fisher EM, Tybulewicz VL, Nizetic D.
Oncogene. 2010 Nov 18;29(46):6102-14. Epub 2010 Aug 9.
PMID 20697343
New human erg isoforms generated by alternative splicing are transcriptional activators.
Duterque-Coquillaud M, Niel C, Plaza S, Stehelin D.
Oncogene. 1993 Jul;8(7):1865-73.
PMID 8510931
BAALC and ERG expression in acute myeloid leukemia with normal karyotype: impact on prognosis.
Eid MA, Attia M, Abdou S, El-Shazly SF, Elahwal L, Farrag W, Mahmoud L.
Int J Lab Hematol. 2010 Apr;32(2):197-205. Epub 2009 Jun 23.
PMID 19555438
ERG rearrangement is present in a subset of transition zone prostatic tumors.
Falzarano SM, Navas M, Simmerman K, Klein EA, Rubin MA, Zhou M, Magi-Galluzzi C.
Mod Pathol. 2010 Nov;23(11):1499-506. Epub 2010 Aug 6.
PMID 20693982
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.
J Clin Invest. 1994 Aug;94(2):489-96.
PMID 8040301
Identification of a cell of origin for human prostate cancer.
Goldstein AS, Huang J, Guo C, Garraway IP, Witte ON.
Science. 2010 Jul 30;329(5991):568-71.
PMID 20671189
FZD4 as a mediator of ERG oncogene-induced WNT signaling and epithelial-to-mesenchymal transition in human prostate cancer cells.
Gupta S, Iljin K, Sara H, Mpindi JP, Mirtti T, Vainio P, Rantala J, Alanen K, Nees M, Kallioniemi O.
Cancer Res. 2010 Sep 1;70(17):6735-45. Epub 2010 Aug 16.
PMID 20713528
Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements.
Haffner MC, Aryee MJ, Toubaji A, Esopi DM, Albadine R, Gurel B, Isaacs WB, Bova GS, Liu W, Xu J, Meeker AK, Netto G, De Marzo AM, Nelson WG, Yegnasubramanian S.
Nat Genet. 2010 Aug;42(8):668-75. Epub 2010 Jul 4.
PMID 20601956
ETS-related gene ERG expression in AML patients is significantly associated with NPM1 mutation status.
Hamalainen M, Juvonen V, Haikio S, Lakkala T, Johansson J, Pelliniemi TT, Salmi TT, Remes K, Kairisto V.
Eur J Haematol. 2010 Oct;85(4):361-2. doi: 10.1111/j.1600-0609.2010.01483.x. Epub 2010 Jul 13.
PMID 20546020
ETS gene aberrations in atypical cribriform lesions of the prostate: Implications for the distinction between intraductal carcinoma of the prostate and cribriform high-grade prostatic intraepithelial neoplasia.
Han B, Suleman K, Wang L, Siddiqui J, Sercia L, Magi-Galluzzi C, Palanisamy N, Chinnaiyan AM, Zhou M, Shah RB.
Am J Surg Pathol. 2010 Apr;34(4):478-85.
PMID 20220513
Expression profiling of ETS and MMP factors in VEGF-activated endothelial cells: role of MMP-10 in VEGF-induced angiogenesis.
Heo SH, Choi YJ, Ryoo HM, Cho JY.
J Cell Physiol. 2010 Sep;224(3):734-42.
PMID 20432469
Selective expression of erg isoforms in human endothelial cells.
Hewett PW, Nishi K, Daft EL, Clifford Murray J.
Int J Biochem Cell Biol. 2001 Apr;33(4):347-55.
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 Cartilage. 2001;9 Suppl A:S41-7.
PMID 11680687
Complex rearrangement of chromosomes 1, 7, 21, 22 in Ewing sarcoma.
Jinawath N, Morsberger L, Norris-Kirby A, Williams LM, Yonescu R, Argani P, Griffin CA, Murphy KM.
Cancer Genet Cytogenet. 2010 Aug;201(1):42-7.
PMID 20633768
Cooperativity of TMPRSS2-ERG with PI3-kinase pathway activation in prostate oncogenesis.
King JC, Xu J, Wongvipat J, Hieronymus H, Carver BS, Leung DH, Taylor BS, Sander C, Cardiff RD, Couto SS, Gerald WL, Sawyers CL.
Nat Genet. 2009 May;41(5):524-6. Epub 2009 Apr 26.
PMID 19396167
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 Aug 1;90(3):1192-9.
PMID 9242552
ETS transcription factors control transcription of EZH2 and epigenetic silencing of the tumor suppressor gene Nkx3.1 in prostate cancer.
Kunderfranco P, Mello-Grand M, Cangemi R, Pellini S, Mensah A, Albertini V, Malek A, Chiorino G, Catapano CV, Carbone GM.
PLoS One. 2010 May 10;5(5):e10547.
PMID 20479932
VE-statin/egfl7 expression in endothelial cells is regulated by a distal enhancer and a proximal promoter under the direct control of Erg and GATA-2.
Le Bras A, Samson C, Trentini M, Caetano B, Lelievre E, Mattot V, Beermann F, Soncin F.
PLoS One. 2010 Aug 16;5(8):e12156.
PMID 20808444
Impact of EWS-ETS fusion type on disease progression in Ewing's sarcoma/peripheral primitive neuroectodermal tumor: prospective results from the cooperative Euro-E.W.I.N.G. 99 trial.
Le Deley MC, Delattre O, Schaefer KL, Burchill SA, Koehler G, Hogendoorn PC, Lion T, Poremba C, Marandet J, Ballet S, Pierron G, Brownhill SC, Nesslbock M, Ranft A, Dirksen U, Oberlin O, Lewis IJ, Craft AW, Jurgens H, Kovar H.
J Clin Oncol. 2010 Apr 20;28(12):1982-8. Epub 2010 Mar 22.
PMID 20308673
TMPRSS2-ERG gene fusion and clinicopathologic characteristics of Korean prostate cancer patients.
Lee K, Chae JY, Kwak C, Ku JH, Moon KC.
Urology. 2010 Nov;76(5):1268.e7-13. Epub 2010 Aug 30.
PMID 20800881
Association of SPINK1 expression and TMPRSS2:ERG fusion with prognosis in endocrine-treated prostate cancer.
Leinonen KA, Tolonen TT, Bracken H, Stenman UH, Tammela TL, Saramaki OR, Visakorpi T.
Clin Cancer Res. 2010 May 15;16(10):2845-51. Epub 2010 May 4.
PMID 20442300
The transcription factor Erg is essential for definitive hematopoiesis and the function of adult hematopoietic stem cells.
Loughran SJ, Kruse EA, Hacking DF, de Graaf CA, Hyland CD, Willson TA, Henley KJ, Ellis S, Voss AK, Metcalf D, Hilton DJ, Alexander WS, Kile BT.
Nat Immunol. 2008 Jul;9(7):810-9. Epub 2008 May 25.
PMID 18500345
TMPRSS2-ERG gene fusion prevalence and class are significantly different in prostate cancer of caucasian, african-american and japanese patients.
Magi-Galluzzi C, Tsusuki T, Elson P, Simmerman K, Lafargue C, Esgueva R, Klein E, Rubin MA, Zhou M.
Prostate. 2010 Sep 28. [Epub ahead of print]
PMID 20878952
CD99-positive large cell neuroendocrine carcinoma with rearranged EWSR1 gene in an infant: a case of prognostically favorable tumor.
Malone VS, Dobin SM, Jones KA, Donner LR.
Virchows Arch. 2010 Sep;457(3):389-95. Epub 2010 Jul 9.
PMID 20617339
Distinct genomic alterations in prostate cancers in Chinese and Western populations suggest alternative pathways of prostate carcinogenesis.
Mao X, Yu Y, Boyd LK, Ren G, Lin D, Chaplin T, Kudahetti SC, Stankiewicz E, Xue L, Beltran L, Gupta M, Oliver RT, Lemoine NR, Berney DM, Young BD, Lu YJ.
Cancer Res. 2010 Jul 1;70(13):5207-12. Epub 2010 Jun 1.
PMID 20516122
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, Mrozek 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.
J Clin Oncol. 2005 Dec 20;23(36):9234-42. Epub 2005 Nov 7.
PMID 16275934
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 Dec 1;98(12):3332-9.
PMID 11719371
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.
Leuk Res. 2006 Aug;30(8):1037-42. Epub 2005 Nov 21.
PMID 16303180
Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome.
Ng AP, Hyland CD, Metcalf D, Carmichael CL, Loughran SJ, Di Rago L, Kile BT, Alexander WS.
Blood. 2010 May 13;115(19):3966-9. Epub 2009 Dec 9.
PMID 20007548
Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript.
Oh SH, Park TS, Choi JR, Lee S, Cho SY, Kim SY, Kim J, Park JK, Song SA, Lee JY, Shin JH, Kim HR, Lee JN.
Cancer Genet Cytogenet. 2010 Jul 15;200(2):180-3.
PMID 20620604
Molecular biology of the Ets family of transcription factors.
Oikawa T, Yamada T.
Gene. 2003 Jan 16;303:11-34. (REVIEW)
PMID 12559563
ETS transcription factors: possible targets for cancer therapy.
Oikawa T.
Cancer Sci. 2004 Aug;95(8):626-33. (REVIEW)
PMID 15298723
A previously unrecognized promoter of LMO2 forms part of a transcriptional regulatory circuit mediating LMO2 expression in a subset of T-acute lymphoblastic leukaemia patients.
Oram SH, Thoms JA, Pridans C, Janes ME, Kinston SJ, Anand S, Landry JR, Lock RB, Jayaraman PS, Huntly BJ, Pimanda JE, Gottgens B.
Oncogene. 2010 Oct 28;29(43):5796-808. Epub 2010 Aug 2.
PMID 20676125
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 Jan 7;324:65-77.
PMID 14693372
Antibody-based detection of ERG rearrangement-positive prostate cancer.
Park K, Tomlins SA, Mudaliar KM, Chiu YL, Esgueva R, Mehra R, Suleman K, Varambally S, Brenner JC, MacDonald T, Srivastava A, Tewari AK, Sathyanarayana U, Nagy D, Pestano G, Kunju LP, Demichelis F, Chinnaiyan AM, Rubin MA.
Neoplasia. 2010 Jul;12(7):590-8.
PMID 20651988
ERG rearrangement metastasis patterns in locally advanced prostate cancer.
Perner S, Svensson MA, Hossain RR, Day JR, Groskopf J, Slaughter RC, Jarleborn AR, Hofer MD, Kuefer R, Demichelis F, Rickman DS, Rubin MA.
Urology. 2010 Apr;75(4):762-7.
PMID 20018353
An in vitro model for preclinical testing of endocrine therapy combinations for prostate cancer.
Pfeiffer MJ, Mulders PF, Schalken JA.
Prostate. 2010 Oct 1;70(14):1524-32.
PMID 20687225
The proto-oncogene ERG in megakaryoblastic leukemias.
Rainis L, Toki T, Pimanda JE, Rosenthal E, Machol K, Strehl S, Gottgens B, Ito E, Izraeli S.
Cancer Res. 2005 Sep 1;65(17):7596-602.
PMID 16140924
Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome.
Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S, Rodriguez-Manzaneque JC, Martino-Echarri E, Aurrand-Lions M, Sheer D, Dagna-Bricarelli F, Nizetic D, McCabe CJ, Turnell AS, Kermorgant S, Imhof BA, Adams R, Fisher EM, Tybulewicz VL, Hart IR, Hodivala-Dilke KM.
Nature. 2010 Jun 10;465(7299):813-7.
PMID 20535211
Evaluation of the ETS-related gene mRNA in urine for the detection of prostate cancer.
Rice KR, Chen Y, Ali A, Whitman EJ, Blase A, Ibrahim M, Elsamanoudi S, Brassell S, Furusato B, Stingle N, Sesterhenn IA, Petrovics G, Miick S, Rittenhouse H, Groskopf J, McLeod DG, Srivastava S.
Clin Cancer Res. 2010 Mar 1;16(5):1572-6. Epub 2010 Feb 16.
PMID 20160063
Clinical implications of TMPRSS2-ERG gene fusion expression in patients with prostate cancer treated with radical prostatectomy.
Rubio-Briones J, Fernandez-Serra A, Calatrava A, Garcia-Casado Z, Rubio L, Bonillo MA, Iborra I, Solsona E, Lopez-Guerrero JA.
J Urol. 2010 May;183(5):2054-61. Epub 2010 Mar 19.
PMID 20303538
ERG is a megakaryocytic oncogene.
Salek-Ardakani S, Smooha G, de Boer J, Sebire NJ, Morrow M, Rainis L, Lee S, Williams O, Izraeli S, Brady HJ.
Cancer Res. 2009 Jun 1;69(11):4665-73.
PMID 19487285
ERG rearrangement in small cell prostatic and lung cancer.
Scheble VJ, Braun M, Wilbertz T, Stiedl AC, Petersen K, Schilling D, Reischl M, Seitz G, Fend F, Kristiansen G, Perner S.
Histopathology. 2010 Jun;56(7):937-43.
PMID 20636794
Changes in cortical cytoskeletal and extracellular matrix gene expression in prostate cancer are related to oncogenic ERG deregulation.
Schulz WA, Ingenwerth M, Djuidje CE, Hader C, Rahnenfuhrer J, Engers R.
BMC Cancer. 2010 Sep 22;10:505.
PMID 20860828
Isolation and characterization of circulating tumor cells from patients with localized and metastatic prostate cancer.
Stott SL, Lee RJ, Nagrath S, Yu M, Miyamoto DT, Ulkus L, Inserra EJ, Ulman M, Springer S, Nakamura Z, Moore AL, Tsukrov DI, Kempner ME, Dahl DM, Wu CL, Iafrate AJ, Smith MR, Tompkins RG, Sequist LV, Toner M, Haber DA, Maheswaran S.
Sci Transl Med. 2010 Mar 31;2(25):25ra23.
PMID 20424012
Integrative genomic profiling of human prostate cancer.
Taylor BS, Schultz N, Hieronymus H, Gopalan A, Xiao Y, Carver BS, Arora VK, Kaushik P, Cerami E, Reva B, Antipin Y, Mitsiades N, Landers T, Dolgalev I, Major JE, Wilson M, Socci ND, Lash AE, Heguy A, Eastham JA, Scher HI, Reuter VE, Scardino PT, Sander C, Sawyers CL, Gerald WL.
Cancer Cell. 2010 Jul 13;18(1):11-22. Epub 2010 Jun 24.
PMID 20579941
ETS gene fusions in prostate cancer: from discovery to daily clinical practice.
Tomlins SA, Bjartell A, Chinnaiyan AM, Jenster G, Nam RK, Rubin MA, Schalken JA.
Eur Urol. 2009 Aug;56(2):275-86. Epub 2009 Apr 24. (REVIEW)
PMID 19409690
1{alpha},25-Dihydroxyvitamin D3 inhibits growth of VCaP prostate cancer cells despite inducing the growth-promoting TMPRSS2:ERG gene fusion.
Washington MN, Weigel NL.
Endocrinology. 2010 Apr;151(4):1409-17. Epub 2010 Feb 10.
PMID 20147525
Genome-wide analysis of ETS-family DNA-binding in vitro and in vivo.
Wei GH, Badis G, Berger MF, Kivioja T, Palin K, Enge M, Bonke M, Jolma A, Varjosalo M, Gehrke AR, Yan J, Talukder S, Turunen M, Taipale M, Stunnenberg HG, Ukkonen E, Hughes TR, Bulyk ML, Taipale J.
EMBO J. 2010 Jul 7;29(13):2147-60. Epub 2010 Jun 1.
PMID 20517297
Combinatorial transcriptional control in blood stem/progenitor cells: genome-wide analysis of ten major transcriptional regulators.
Wilson NK, Foster SD, Wang X, Knezevic K, Schutte J, Kaimakis P, Chilarska PM, Kinston S, Ouwehand WH, Dzierzak E, Pimanda JE, de Bruijn MF, Gottgens B.
Cell Stem Cell. 2010 Oct 8;7(4):532-44.
PMID 20887958
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 Mar;1(2):133-43.
PMID 12086872
An integrated network of androgen receptor, polycomb, and TMPRSS2-ERG gene fusions in prostate cancer progression.
Yu J, Yu J, Mani RS, Cao Q, Brenner CJ, Cao X, Wang X, Wu L, Li J, Hu M, Gong Y, Cheng H, Laxman B, Vellaichamy A, Shankar S, Li Y, Dhanasekaran SM, Morey R, Barrette T, Lonigro RJ, Tomlins SA, Varambally S, Qin ZS, Chinnaiyan AM.
Cancer Cell. 2010 May 18;17(5):443-54.
PMID 20478527
Current treatment protocols have eliminated the prognostic advantage of type 1 fusions in Ewing sarcoma: a report from the Children's Oncology Group.
van Doorninck JA, Ji L, Schaub B, Shimada H, Wing MR, Krailo MD, Lessnick SL, Marina N, Triche TJ, Sposto R, Womer RB, Lawlor ER.
J Clin Oncol. 2010 Apr 20;28(12):1989-94. Epub 2010 Mar 22.
PMID 20308669
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, Revesz T, Staal FJ, van Dongen JJ.
J Immunol. 2005 Nov 1;175(9):5912-22.
PMID 16237084


This paper should be referenced as such :
Menon, R ; Braun, M ; Perner, S
ERG (v-ets erythroblastosis virus E26 oncogene like (avian))
Atlas Genet Cytogenet Oncol Haematol. 2011;15(7):547-553.
Free journal version : [ pdf ]   [ DOI ]
History of this paper:
Izraeli, S ; Rainis-Ganon, L. ERG (v-ets erythroblastosis virus E26 oncogene like (avian)). Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):4-7.

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 8 ]
  t(1;7)(p36;p12) IKZF1::PRDM16
t(X;21)(q26;q22) ELF4::ERG
t(16;21)(p11;q22) FUS::ERG
t(4;21)(q35;q22) DUX4::ERG
t(4;21)(q35;q22) ERG::DUX4
t(5;21)(q35;q22) HNRNPH1::ERG
t(21;21)(q22;q22) ERG::DYRK1A
t(21;21)(q22;q22) ETS2::ERG

External links


HGNC (Hugo)ERG   3446
Entrez_Gene (NCBI)ERG    ETS transcription factor ERG
Aliaseserg-3; p55
GeneCards (Weizmann)ERG
Ensembl hg19 (Hinxton)ENSG00000157554 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157554 [Gene_View]  ENSG00000157554 [Sequence]  chr21:38380036-38498477 [Contig_View]  ERG [Vega]
ICGC DataPortalENSG00000157554
TCGA cBioPortalERG
Genatlas (Paris)ERG
SOURCE (Princeton)ERG
Genetics Home Reference (NIH)ERG
Genomic and cartography
GoldenPath hg38 (UCSC)ERG  -     chr21:38380036-38498477 -  21q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERG  -     21q22.2   [Description]    (hg19-Feb_2009)
GoldenPathERG - 21q22.2 [CytoView hg19]  ERG - 21q22.2 [CytoView hg38]
Genome Data Viewer NCBIERG [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA706319 AH001456 AH005535 AH005535 AK297807
RefSeq transcript (Entrez)NM_001136154 NM_001136155 NM_001243428 NM_001243429 NM_001243432 NM_001243433 NM_001291391 NM_001331025 NM_004449 NM_182918
Consensus coding sequences : CCDS (NCBI)ERG
Gene ExpressionERG [ NCBI-GEO ]   ERG [ EBI - ARRAY_EXPRESS ]   ERG [ SEEK ]   ERG [ MEM ]
Gene Expression Viewer (FireBrowse)ERG [ Firebrowse - Broad ]
GenevisibleExpression of ERG in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2078
GTEX Portal (Tissue expression)ERG
Human Protein AtlasENSG00000157554-ERG [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11308   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11308  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11308
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_1 (PS00345)    ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)    PNT (PS51433)   
Domains : Interpro (EBI)Ets_dom    Pointed_dom    SAM/pointed_sf    WH-like_DNA-bd_sf    WH_DNA-bd_sf   
Domain families : Pfam (Sanger)Ets (PF00178)    SAM_PNT (PF02198)   
Domain families : Pfam (NCBI)pfam00178    pfam02198   
Domain families : Smart (EMBL)ETS (SM00413)  SAM_PNT (SM00251)  
Conserved Domain (NCBI)ERG
PDB (RSDB)1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
PDB Europe1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
PDB (PDBSum)1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
PDB (IMB)1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
Structural Biology KnowledgeBase1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
SCOP (Structural Classification of Proteins)1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
CATH (Classification of proteins structures)1SXE    4IRG    4IRH    4IRI    5YBC    5YBD   
AlphaFold pdb e-kbP11308   
Human Protein Atlas [tissue]ENSG00000157554-ERG [tissue]
Protein Interaction databases
IntAct (EBI)P11308
Ontologies - Pathways
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  chromatin binding  protein binding  nucleus  cytoplasm  regulation of transcription by RNA polymerase II  protein phosphorylation  signal transduction  multicellular organism development  cell differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  sequence-specific double-stranded DNA binding  ribonucleoprotein complex  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  chromatin binding  protein binding  nucleus  cytoplasm  regulation of transcription by RNA polymerase II  protein phosphorylation  signal transduction  multicellular organism development  cell differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  sequence-specific double-stranded DNA binding  ribonucleoprotein complex  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkERG
Atlas of Cancer Signalling NetworkERG
Wikipedia pathwaysERG
Orthology - Evolution
GeneTree (enSembl)ENSG00000157554
Phylogenetic Trees/Animal Genes : TreeFamERG
Homologs : HomoloGeneERG
Homology/Alignments : Family Browser (UCSC)ERG
Gene fusions - Rearrangements
Fusion : Mitelman-::21q22.2 [ERG/t(6;21;21)(p21;q22;q22)]  
Fusion : MitelmanELF4::ERG [Xq26.1/21q22.2]  
Fusion : MitelmanERG::GMPR [21q22.2/6p22.3]  
Fusion : MitelmanERG::KCNJ6 [21q22.2/21q22.13]  
Fusion : MitelmanERG::ZNRF3 [21q22.2/22q12.1]  
Fusion : MitelmanETS2::ERG [21q22.2/21q22.2]  
Fusion : COSMICTMPRSS2 [21q22.3]  -  ERG [21q22.2]  [fusion_135]  [fusion_139]  [fusion_16]  [fusion_17]  [fusion_18]  [fusion_21]  [fusion_23]  
[fusion_24]  [fusion_25]  [fusion_26]  [fusion_27]  [fusion_28]  [fusion_29]  [fusion_30]  [fusion_36]  [fusion_736]  
Fusion Cancer (Beijing)TMPRSS2 [21q22.3]  -  ERG [21q22.2]  [FUSC004187]  [FUSC004187]  [FUSC004187]  [FUSC004187]  [FUSC004187]
Fusion : QuiverERG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERG [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERG
Exome Variant ServerERG
GNOMAD BrowserENSG00000157554
Varsome BrowserERG
ACMGERG variants
Genomic Variants (DGV)ERG [DGVbeta]
DECIPHERERG [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERG 
ICGC Data PortalERG 
TCGA Data PortalERG 
Broad Tumor PortalERG
OASIS PortalERG [ Somatic mutations - Copy number]
Cancer Gene: CensusERG 
Somatic Mutations in Cancer : COSMICERG  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DERG
Mutations and Diseases : HGMDERG
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)ERG
DoCM (Curated mutations)ERG
CIViC (Clinical Interpretations of Variants in Cancer)ERG
NCG (London)ERG
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Orphanet3759    22491    22490   
Genetic Testing Registry ERG
NextProtP11308 [Medical]
Target ValidationERG
Huge Navigator ERG [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDERG
Pharm GKB GenePA27858
Clinical trialERG
DataMed IndexERG
Other databaseCancer Genetics
PubMed443 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:17:20 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us