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GeneE
50 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.
EGF
epidermal growth factor
Chromosome 4 Β· 4q25
NCBI Gene: 1950Ensembl: ENSG00000138798.13HGNC: HGNC:3229UniProt: A0A494C018
797PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of protein localization to cell surfaceERBB2-EGFR signaling pathwayguanyl-nucleotide exchange factor activitypositive regulation of DNA-templated transcriptioncanceratrial fibrillationfamilial primary hypomagnesemia with normocalciuria and normocalcemiaosteonecrosis
✦AI Summary

EGF (epidermal growth factor) is a critical growth factor that regulates cell proliferation, differentiation, and survival through binding to the epidermal growth factor receptor (EGFR). EGF stimulates proliferation in various epithelial tissues and can induce differentiation processes such as mesenchymal-to-epithelial transition when combined with calcium 1. The protein functions through autocrine signaling mechanisms, where EGF can upregulate both its own synthesis and EGFR expression via protein kinase C-dependent pathways 2. In human placental development, EGF acts as an autocrine factor regulating trophoblast proliferation in early gestation and hormone secretion in later stages 3. EGF signaling activates multiple downstream pathways including ERK1/2, PI3K/Akt, and can stimulate steroidogenesis through StAR protein upregulation 4. Clinically, EGF expression correlates with increased malignancy in gastric cancer, associated with greater invasion and lymph node metastasis 5. EGF also promotes cancer cell invasion through COX2/PGE2 pathways in ovarian cancer 6. At the cellular level, EGFR forms pre-existing clusters that include HER2, with approximately 4:1 EGFR:EGF stoichiometry upon ligand binding 7. In the kidney, EGF localizes to specific tubular segments and intercalated cells with unique morphology 8.

Sources cited
1
EGF induces mesenchymal-to-epithelial transition when combined with calcium
PMID: 25339576
2
EGF upregulates its own synthesis and EGFR expression via protein kinase C pathways
PMID: 2103504
3
EGF acts as autocrine factor in placental development regulating trophoblast function
PMID: 8743148
4
EGF activates ERK1/2 signaling and stimulates steroidogenesis through StAR upregulation
PMID: 36284301
5
EGF expression correlates with malignancy and poor prognosis in gastric cancer
PMID: 7889468
6
EGF promotes cancer cell invasion through COX2/PGE2 pathways
PMID: 24969217
7
EGFR forms clusters with HER2 and shows 4:1 EGFR:EGF binding stoichiometry
PMID: 35612280
8
EGF localizes to specific renal tubular segments and intercalated cells
PMID: 8072266
Disease Associationsβ“˜21
cancerOpen Targets
0.62Moderate
atrial fibrillationOpen Targets
0.45Moderate
familial primary hypomagnesemia with normocalciuria and normocalcemiaOpen Targets
0.41Moderate
osteonecrosisOpen Targets
0.35Weak
duodenitisOpen Targets
0.23Weak
ThrombocytopeniaOpen Targets
0.14Weak
cholangiocarcinomaOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
hereditary renal cell carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.11Weak
gliomaOpen Targets
0.11Weak
necrotizing enterocolitisOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.11Weak
acute kidney injuryOpen Targets
0.10Weak
oral squamous cell carcinomaOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
Parkinson diseaseOpen Targets
0.10Weak
Hypomagnesemia 4UniProt
Pathogenic Variants2
NM_001963.6(EGF):c.1189+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001963.6(EGF):c.3209C>T (p.Pro1070Leu)Pathogenic
Renal hypomagnesemia 4
β˜†β˜†β˜†β˜†2007β†’ Residue 1070
View on ClinVar β†—
Related Genes
FGFR1Protein interaction100%FGFR2Protein interaction100%PDGFCProtein interaction100%PDGFAProtein interaction100%PDGFDProtein interaction100%CD9Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
21%
Brain
15%
Bone Marrow
3%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
EGFFGFR1FGFR2PDGFCPDGFAPDGFDCD9
PROTEIN STRUCTURE
Preparing viewer…
PDB1NQL Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.52–0.74]
RankingsWhere EGF stands among ~20K protein-coding genes
  • #246of 20,598
    Most Researched797 Β· top 5%
  • #4,188of 5,498
    Most Pathogenic Variants2
  • #5,830of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedEGF
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
HB-EGF upregulates StAR expression and stimulates progesterone production through ERK1/2 signaling in human granulosa-lutein cells.
PMID: 36284301
Cell Commun Signal Β· 2022
1.00
2
COX2 and PGE2 mediate EGF-induced E-cadherin-independent human ovarian cancer cell invasion.
PMID: 24969217
Endocr Relat Cancer Β· 2014
0.90
3
Critical roles for EGFR and EGFR-HER2 clusters in EGF binding of SW620 human carcinoma cells.
PMID: 35612280
J R Soc Interface Β· 2022
0.80
4
[The transcriptional regulation of the human gastrin gene by EGF].
PMID: 8920679
Nihon Rinsho Β· 1996
0.80
5
EGF signaling activates proliferation and blocks apoptosis of mouse and human intestinal stem/progenitor cells in long-term monolayer cell culture.
PMID: 20714325
Lab Invest Β· 2010
0.78