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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ERG
ETS transcription factor ERG
Chromosome 21 Β· 21q22.2
NCBI Gene: 2078Ensembl: ENSG00000157554.20HGNC: HGNC:3446UniProt: A0A0C4DG41
491PubMed Papers
22Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedOncogeneTranscription Factor
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA-binding transcription activator activity, RNA polymerase II-specificpositive regulation of transcription by RNA polymerase IIcytosolprotein bindingB-cell acute lymphoblastic leukemiamultiple sclerosislymphatic malformation 14osteoarthritis, hip
✦AI Summary

ERG (ETS transcription factor ERG) is a nuclear transcription factor located on chromosome 21 that functions as a master regulator of gene expression, particularly in endothelial and hematopoietic cells 1. ERG acts as a DNA-binding transcriptional activator that regulates genes involved in angiogenesis and lymphangiogenesis through direct transcriptional control and chr21 remodeling via SETDB1 recruitment 2. Specifically, ERG regulates lymphatic vessel specification genes including VEGFR3/FLT-4, LYVE-1, SOX-18, and PROX-1, with deficiency impairing wound healing-associated lymphangiogenesis 2. ERG's disease relevance is substantial. In prostate cancer, ERG-driven tumorigenicity depends on activation in specific basal cell populations and requires KMT2A and DOT1L histone methyltransferases 3. ERG translocations, particularly TMPRSS2:ERG fusions, occur in approximately 49% of European, 27% of Asian, and 25% of African descent prostate cancers 4. ERG also represses the LDB1 coactivator, disrupting transcriptional complexes that control developmental pathways 5. Additionally, ERG polymorphisms (rs2836411) associate with anemia susceptibility and aortic dissection risk 6. ERG is clinically valuable as an immunohistochemical marker for endothelial differentiation and identifies ERG-translocated malignancies including Ewing sarcoma and prostate carcinoma 1.

Sources cited
1
ERG regulates lymphatic vessel specification genes (VEGFR3/FLT-4, LYVE-1, SOX-18, PROX-1) and its deficiency impairs wound healing-associated lymphangiogenesis
PMID: 38965683
2
ERG-driven prostate cancer tumorigenicity requires KMT2A and DOT1L and is context-dependent on specific basal cell populations
PMID: 40858905
3
ERG represses LDB1 (homolog of Drosophila Chip) through direct binding and E(z)-mediated silencing, disrupting developmental transcriptional complexes
PMID: 36595681
4
ERG is a nuclear transcription factor on chromosome 22 expressed in endothelial cells involved in angiogenesis and hematopoiesis; useful immunohistochemical marker for endothelial differentiation and ERG-translocated malignancies
PMID: 35738886
5
TMPRSS2:ERG fusion prevalence varies by race: highest in European descent (49%), followed by Asian (27%) and African descent (25%)
PMID: 28633309
6
ERG rs2836411 polymorphism T carriers associate with anemia and aortic dissection susceptibility
PMID: 39604843
Disease Associationsβ“˜22
B-cell acute lymphoblastic leukemiaOpen Targets
0.50Moderate
multiple sclerosisOpen Targets
0.48Moderate
lymphatic malformation 14Open Targets
0.45Moderate
osteoarthritis, hipOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
Dupuytren ContractureOpen Targets
0.41Moderate
Abdominal Aortic AneurysmOpen Targets
0.41Moderate
total hip arthroplastyOpen Targets
0.40Moderate
prostate adenocarcinomaOpen Targets
0.38Weak
prostate intraepithelial neoplasiaOpen Targets
0.38Weak
prostate carcinomaOpen Targets
0.38Weak
Ewing sarcomaOpen Targets
0.38Weak
Prostate Small Cell CarcinomaOpen Targets
0.38Weak
benign prostatic hyperplasiaOpen Targets
0.37Weak
desmoplastic small round cell tumorOpen Targets
0.37Weak
Acinar Prostate Mucinous AdenocarcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
primary lymphedemaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Ewing sarcoma/peripheral primitive neuroectodermal tumor of boneOpen Targets
0.37Weak
Ewing sarcomaUniProt
Lymphatic malformation 14UniProt
Pathogenic Variants3
NM_182918.4(ERG):c.1388del (p.Asn463fs)Pathogenic
Lymphatic malformation 14
β˜†β˜†β˜†β˜†2023β†’ Residue 463
NM_182918.4(ERG):c.671_672del (p.Thr224fs)Pathogenic
Lymphatic malformation 14
β˜†β˜†β˜†β˜†2023β†’ Residue 224
NM_182918.4(ERG):c.543del (p.Ser182fs)Pathogenic
Lymphatic malformation 14
β˜†β˜†β˜†β˜†2023β†’ Residue 182
View on ClinVar β†—
Related Genes
TMPRSS2Protein interaction97%SPOPProtein interaction95%ARProtein interaction89%RUNX2Protein interaction86%CBFBProtein interaction86%SETDB1Protein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
48%
Lung
47%
Liver
13%
Ovary
13%
Brain
9%
Gene Interaction Network
Click a node to explore
ERGTMPRSS2SPOPARRUNX2CBFBSETDB1
PROTEIN STRUCTURE
Preparing viewer…
PDB4IRG Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.23Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.06–0.23]
RankingsWhere ERG stands among ~20K protein-coding genes
  • #542of 20,598
    Most Researched491 Β· top 5%
  • #3,898of 5,498
    Most Pathogenic Variants3
  • #654of 17,882
    Most Constrained (LOEUF)0.23 Β· top 5%
Genes detectedERG
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Electroretinography.
PMID: 30578478
Adv Exp Med Biol Β· 2018
1.00
2
ERG Regulates Lymphatic Vessel Specification Genes and Its Deficiency Impairs Wound Healing-Associated Lymphangiogenesis.
PMID: 38965683
Arthritis Rheumatol Β· 2024
0.90
3
ERG-driven prostate cancer initiation is cell-context dependent and requires KMT2A and DOT1L.
PMID: 40858905
Nat Genet Β· 2025
0.80
4
Cytokine-Mediated Degradation of the Transcription Factor ERG Impacts the Pulmonary Vascular Response to Systemic Inflammatory Challenge.
PMID: 37317853
Arterioscler Thromb Vasc Biol Β· 2023
0.76
5
Human ERG oncoprotein represses
PMID: 36595681
Proc Natl Acad Sci U S A Β· 2023
0.70