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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ELF5
E74 like ETS transcription factor 5
Chromosome 11 · 11p13
NCBI Gene: 2001Ensembl: ENSG00000135374.11HGNC: HGNC:3320UniProt: A0A087X1W9
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingcell differentiationnucleusCOVID-19knee fractureProptosisneurodegenerative disease
✦AI Summary

ELF5 is an epithelial-specific ETS transcription factor that functions as a master regulator of cell fate and tissue homeostasis. ELF5 binds DNA sequences containing the consensus core GGA[AT] and transcriptionally activates target genes including SPRR2A and gland-specific promoters 1. ELF5 is essential for early embryogenesis, with null mutations causing lethality before embryonic day 7.5, and is critically required for mammary gland development during pregnancy and lactation through regulation of milk protein expression 2. The protein functions as a gatekeeper in developmental hierarchies, integrating hormonal and growth factor signaling to specify epithelial cell identity, particularly in luminal adaptive secretory progenitor (LASP) cells of breast tissue 34. In cancer biology, ELF5 loss represents a key epigenetic alteration associated with tumorigenesis; reduced ELF5 accessibility and expression in BRCA1 heterozygous mammary epithelial cells promotes early breast cancer onset through altered chr11 accessibility 5. ELF5 dysregulation correlates with tamoxifen resistance in ER-positive breast cancers, with altered methylation patterns predicting clinical progression 6. Genome-wide association studies have identified ELF5 variants as risk loci for COVID-19 severity and lung adenocarcinoma, particularly in East Asian populations 78. These findings establish ELF5 as both a developmental master regulator and an important player in epithelial cancer progression.

Sources cited
1
ELF5 is an epithelial-specific ETS transcription factor involved in tissue homeostasis and cancer progression
PMID: 30200227
2
ELF5 is essential for embryogenesis and mammary gland development during pregnancy and lactation, regulating milk protein expression
PMID: 15650748
3
ELF5 is a cell identity gene for luminal adaptive secretory progenitor (LASP) cells in breast tissue
PMID: 39122969
4
ELF5 functions as a master regulator and gatekeeper in developmental processes integrating hormonal signals
PMID: 22464677
5
Loss of ELF5 accessibility in BRCA1 heterozygous mammary epithelial cells promotes early breast cancer onset
PMID: 39528827
6
ELF5 dysregulation and methylation changes correlate with tamoxifen resistance in ER-positive breast cancer
PMID: 26884724
7
ELF5 variants are associated with COVID-19 severity in genome-wide association studies
PMID: 35708486
8
ELF5 at 11p13 is identified as a novel candidate gene for lung adenocarcinoma susceptibility, particularly in East Asian populations
PMID: 37236969
Disease Associationsⓘ20
COVID-19Open Targets
0.51Moderate
knee fractureOpen Targets
0.31Weak
ProptosisOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.25Weak
breast cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
ovarian carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
breast carcinomaOpen Targets
0.05Suggestive
endometrial carcinomaOpen Targets
0.05Suggestive
cardiac transplantOpen Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
lymph node metastatic carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPDPFLShared pathway100%ETV3LShared pathway100%ERFLShared pathway100%NKX1-2Shared pathway100%NHSL2Shared pathway100%ZNF800Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Liver
3%
Brain
2%
Bone Marrow
1%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
ELF5PPDPFLETV3LERFLNKX1-2NHSL2ZNF800
PROTEIN STRUCTURE
Preparing viewer…
PDB1WWX · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.59–1.06]
RankingsWhere ELF5 stands among ~20K protein-coding genes
  • #8,421of 20,598
    Most Researched53
  • #10,719of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedELF5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Brca1 haploinsufficiency promotes early tumor onset and epigenetic alterations in a mouse model of hereditary breast cancer.
PMID: 39528827
Nat Genet · 2024
1.00
2
ELF3, ELF5, EHF and SPDEF Transcription Factors in Tissue Homeostasis and Cancer.
PMID: 30200227
Molecules · 2018
0.90
3
Elf5, hormones and cell fate.
PMID: 22464677
Trends Endocrinol Metab · 2012
0.80
4
Single-nucleus chromatin accessibility and transcriptomic map of breast tissues of women of diverse genetic ancestry.
PMID: 39122969
Nat Med · 2024
0.70
5
Novel genes and sex differences in COVID-19 severity.
PMID: 35708486
Hum Mol Genet · 2022
0.60