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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ELF2
E74 like ETS transcription factor 2
Chromosome 4 · 4q31.1
NCBI Gene: 1998Ensembl: ENSG00000109381.22HGNC: HGNC:3317UniProt: B7Z720
60PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor activity, RNA polymerase II-specificnuclear bodyprotein bindingnucleoplasmatrial fibrillationneurodegenerative diseasecerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeurethral syndrome
✦AI Summary

ELF2 is an ETS-family transcription factor that functions as a DNA-binding regulator of RNA polymerase II-mediated transcription with roles in both normal physiology and disease. ELF2 binds sequence-specifically to promoter regions of target genes including VEGFR2 and VE-cadherin, where it promotes transcriptional activation 1. The protein's activity is regulated through post-translational phosphorylation at S107, which stabilizes ELF2 and enhances its transcriptional capacity 1. ELF2 participates in positive feedback regulatory loops; notably, c-Myc-induced lncRNA MIRE stabilizes ELF2 mRNA via hnRNPK binding, while ELF2 reciprocally activates MIRE transcription in renal cell carcinoma 2. Clinically, ELF2 expression correlates with cancer prognosis and chemotherapy response. In retinoblastoma, ELF2 loss confers resistance to topotecan through reduced apoptosis and altered ATP synthesis pathways 3. ELF2 overexpression drives vasculogenic mimicry in glioblastoma by transactivating angiogenic genes 1, while elevated ELF2 promotes ovarian cancer progression via the miR-653-5p regulatory axis 4. In non-small cell lung cancer, PBX2/ELF2 expression independently predicts survival outcomes 5. Additionally, ELF2 is enriched at Alzheimer's disease risk loci in microglial enhancers, suggesting roles in neuroinflammatory regulation 6.

Sources cited
1
ELF2 loss drives topotecan resistance in retinoblastoma through reduced apoptosis and MT-CYB pathway involvement
PMID: 41436498
2
ELF2 phosphorylation at S107 increases protein stability and promotes vasculogenic mimicry by transactivating VEGFR2 and VE-cadherin
PMID: 37406957
3
MIRE lncRNA stabilizes ELF2 mRNA and forms a positive feedback loop with ELF2 in renal cell carcinoma
PMID: 37248433
4
ELF2 promotes ovarian cancer progression through the miR-653-5p regulatory axis affecting proliferation, migration, and invasion
PMID: 35166984
5
PBX2/ELF2 expression is an independent predictor of survival in non-small cell lung cancer
PMID: 25187455
6
ELF2 is enriched at Alzheimer's disease risk loci in microglial enhancers as a transcriptional regulator
PMID: 37774680
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.28Weak
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeOpen Targets
0.27Weak
urethral syndromeOpen Targets
0.27Weak
Non-Neoplastic Bile Duct DisorderOpen Targets
0.23Weak
bipolar disorderOpen Targets
0.23Weak
insomniaOpen Targets
0.22Weak
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.04Suggestive
osteosarcomaOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
viral diseaseOpen Targets
0.03Suggestive
contact dermatitisOpen Targets
0.03Suggestive
multinodular goiterOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
DNA methylationOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr)Likely pathogenic
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome|not provided
★☆☆☆2017→ Residue 4
View on ClinVar ↗
Related Genes
PPDPFLShared pathway100%ETV3LShared pathway100%ERFLShared pathway100%NKX1-2Shared pathway100%NHSL2Shared pathway100%ZNF800Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
37%
Lung
35%
Ovary
33%
Liver
28%
Brain
26%
Gene Interaction Network
Click a node to explore
ELF2PPDPFLETV3LERFLNKX1-2NHSL2ZNF800
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15723
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.27Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.27]
RankingsWhere ELF2 stands among ~20K protein-coding genes
  • #7,656of 20,598
    Most Researched60
  • #5,045of 5,498
    Most Pathogenic Variants1
  • #916of 17,882
    Most Constrained (LOEUF)0.27 · top 10%
Genes detectedELF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion.
PMID: 37774680
Cell · 2023
1.00
2
ATF4 activation promotes hepatic mitochondrial dysfunction by repressing NRF1-TFAM signalling in alcoholic steatohepatitis.
PMID: 33177163
Gut · 2021
0.90
3
Loss of ELF2 drives topotecan resistance in retinoblastoma revealed by genome-wide CRISPR-Cas9 screening.
PMID: 41436498
Cell Death Dis · 2025
0.80
4
A novel peptide P1-121aa encoded by STK24P1 regulates vasculogenic mimicry via ELF2 phosphorylation in glioblastoma.
PMID: 37406957
Exp Neurol · 2023
0.70
5
Targeted citrullination enables p53 binding to non-canonical sites.
PMID: 41043392
Mol Cell · 2025
0.60