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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ELF4
E74 like ETS transcription factor 4
Chromosome X Β· Xq26.1
NCBI Gene: 2000Ensembl: ENSG00000102034.19HGNC: HGNC:3319UniProt: Q99607
52PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of interleukin-1 beta productionnegative regulation of interleukin-6 productionnegative regulation of tumor necrosis factor productionpositive regulation of DNA-templated transcriptionautoinflammatory syndrome, familial, X-linked, Behcet-like 2neurodegenerative diseaseinflammatory bowel diseaseisolated growth hormone deficiency type III
✦AI Summary

ELF4 (E74 like ETS transcription factor 4) is a transcriptional regulator that functions as both an activator and repressor of inflammatory responses. The protein binds to DNA sequences containing ETS consensus sites and regulates transcription of multiple target genes 1. ELF4 plays a critical role in immune system function by sustaining expression of anti-inflammatory genes such as IL1RN while limiting upregulation of pro-inflammatory mediators including IL1B, IL6, TNFA, and neutrophil chemoattractants 1. The transcription factor also controls expression of TREM1, a cell surface receptor involved in amplifying inflammatory responses 1. Loss-of-function mutations in ELF4 cause DEX (deficiency in ELF4, X-linked), an autoinflammatory syndrome characterized by recurrent oral ulcers, inflammatory bowel disease-like symptoms, and hyperinflammatory macrophage responses 12. Patients with DEX typically present in early childhood with fever, mucosal ulcerations, and elevated inflammatory markers 2. Treatment often involves anti-TNF therapy, IL-1 blockade, or corticosteroids 3. In cancer contexts, ELF4 overexpression correlates with poor prognosis and increased drug resistance across multiple tumor types 4.

Sources cited
1
ELF4 sustains anti-inflammatory gene expression and limits pro-inflammatory responses; loss-of-function causes autoinflammatory disease
PMID: 34326534
2
Clinical manifestations of DEX include recurrent oral ulcers, fever, and gastrointestinal symptoms in male patients
PMID: 39563044
3
DEX treatment involves glucocorticoids and biologics targeting inflammatory pathways
PMID: 38733460
4
High ELF4 expression in cancers associates with worse outcomes and increased drug resistance
PMID: 33836003
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
autoinflammatory syndrome, familial, X-linked, Behcet-like 2Open Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
inflammatory bowel diseaseOpen Targets
0.38Weak
isolated growth hormone deficiency type IIIOpen Targets
0.38Weak
FeverOpen Targets
0.37Weak
ulcer diseaseOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
gliomatosis cerebriOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemiaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
acute myeloid leukemiaOpen Targets
0.34Weak
gliomaOpen Targets
0.30Weak
esophageal squamous cell carcinomaOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.29Weak
head and neck squamous cell carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
clear cell renal carcinomaOpen Targets
0.28Weak
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2UniProt
Pathogenic Variants8
NM_001421.4(ELF4):c.985C>T (p.Arg329Ter)Pathogenic
Thyroid cancer, nonmedullary, 1|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 329
NM_001421.4(ELF4):c.521_525del (p.Lys173_Ser174insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 173
NM_001421.4(ELF4):c.700C>T (p.Arg234Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 234
NM_001421.4(ELF4):c.553C>T (p.Arg185Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 185
NM_001421.4(ELF4):c.560C>A (p.Thr187Asn)Pathogenic
See cases|Acute myeloid leukemia
β˜…β˜†β˜†β˜†2022β†’ Residue 187
NM_001421.4(ELF4):c.691T>C (p.Trp231Arg)Pathogenic
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
β˜†β˜†β˜†β˜†2022β†’ Residue 231
NM_001421.4(ELF4):c.1015del (p.Ala339fs)Pathogenic
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
β˜†β˜†β˜†β˜†2022β†’ Residue 339
NM_001421.4(ELF4):c.752G>C (p.Trp251Ser)Pathogenic
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
β˜†β˜†β˜†β˜†2022β†’ Residue 251
View on ClinVar β†—
Related Genes
ELF3Protein interaction98%IL37Shared pathway25%PYDC2Shared pathway22%PPDPFLShared pathway20%ETV3LShared pathway20%ERFLShared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
69%
Ovary
42%
Heart
11%
Brain
11%
Liver
5%
Gene Interaction Network
Click a node to explore
ELF4ELF3IL37PYDC2PPDPFLETV3LERFL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q99607
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.95Intolerant
Observed/Expected LoF0.32 [0.19–0.54]
RankingsWhere ELF4 stands among ~20K protein-coding genes
  • #8,550of 20,598
    Most Researched52
  • #3,089of 5,498
    Most Pathogenic Variants8
  • #3,364of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedELF4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC.
PMID: 36923538
Theranostics Β· 2023
1.00
2
Transcription factor ELF4 in physiology and diseases: Molecular roles and clinical implications.
PMID: 40083328
Genes Dis Β· 2025
0.90
3
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
PMID: 34326534
Nat Immunol Β· 2021
0.80
4
[Two cases of deficiency in ELF4 gene X-linked and literature review].
PMID: 39563044
Zhonghua Er Ke Za Zhi Β· 2024
0.70
5
Roles and regulations of the ETS transcription factor ELF4/MEF.
PMID: 27932483
J Mol Cell Biol Β· 2017
0.60