EGF Gene - Epidermal Growth Factor

A comprehensive biomedical resource on the EGF gene, including genomic data, expression, mutations, and associated diseases.

Gene Information Card

Symbol EGF
Full Name Epidermal Growth Factor
Gene Type protein-coding
Chromosomal Location 4q25
NCBI Gene ID 1950 ncbi.nlm.nih.gov/gene/1950
Ensembl ID ENSG00000138798
UniProt ID P01133
OMIM ID 131530
HGNC ID 3229
Aliases HOMG4, URG, beta-urogastrone

Description

The EGF gene encodes epidermal growth factor, a protein that binds to the EGF receptor (EGFR) to stimulate cell growth, proliferation, and differentiation. It is synthesized as a transmembrane precursor that is cleaved to release the soluble growth factor. EGF plays critical roles in development, wound healing, and tissue homeostasis. Dysregulation of EGF signaling is implicated in various cancers and genetic disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hypomagnesemia 4, Renal Mutations in EGF impair renal magnesium reabsorption via defective EGF/EGFR signaling in the distal tubule OMIM #611718
Non-small cell lung cancer Overexpression of EGF contributes to autocrine EGFR activation, promoting tumor growth COSMIC, ClinVar
Colorectal cancer Elevated EGF expression correlates with poor prognosis and EGFR-dependent proliferation COSMIC, ClinVar

Expression Profile

Tissue Expression
Tissue nTPM level
Kidney 12.5 Medium
Salivary gland 45.2 High
Prostate 8.3 Medium
Liver 3.1 Low
Lung 2.7 Low
Cell Line Expression
Cell Line nTPM Notes
A549 (lung carcinoma) 6.8 Moderate expression
MCF7 (breast cancer) 4.2 Low expression
HEK293 (embryonic kidney) 15.1 High expression
HepG2 (liver cancer) 2.3 Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Loss of start codon, likely loss of function
c.375C>G (p.Cys125Trp) missense <0.01% Disrupts disulfide bond, impairs receptor binding
c.226G>A (p.Gly76Arg) missense <0.01% Associated with hypomagnesemia
Mutation functional classification

Loss of Function (LOF)

Mutations that disrupt EGF synthesis or receptor binding (e.g., start codon loss, disulfide bond disruption) lead to reduced EGF signaling, as seen in renal hypomagnesemia.

Gain of Function (GOF)

Amplification or overexpression of EGF (not point mutations) can enhance EGFR signaling, contributing to oncogenesis.

Dominant Negative (DN)

No well-characterized dominant-negative EGF mutations reported.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/1950
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=EGF

Gene Ontology (GO)

• growth factor activity (GO:0008083) • protein binding (GO:0005515)
• epidermal growth factor receptor signaling pathway (GO:0007173) • extracellular space (GO:0005615)
• plasma membrane (GO:0005886)

Pathways

• EGFR tyrosine kinase inhibitor resistance (KEGG hsa01521)
• ErbB signaling pathway (KEGG hsa04012)
• MAPK signaling pathway (KEGG hsa04010)
• PI3K-Akt signaling pathway (KEGG hsa04151)

Protein Summary

The EGF protein is a 1207-amino-acid transmembrane precursor (pro-EGF) that undergoes proteolytic cleavage to release the mature 53-amino-acid growth factor. Mature EGF contains three disulfide bonds essential for binding to EGFR. It stimulates cell proliferation, differentiation, and survival through activation of downstream signaling cascades including MAPK and PI3K-Akt. EGF is widely expressed in tissues such as salivary glands, kidney, and prostate.

Related Services

Knockout Cell Line
Point Mutation Cell Line
Knock-In Cell Line
Overexpression Cell Line
Knockdown Cell Line
Reporter Cell Line
Knock-in Tag
iPSC Gene Editing

Related Products

Product name Cat.No. Species Gene ID
anti-EGFR-gy-1 Overexpression RAW 264.7 Stable Cell Line EDJ0068-G29 Mouse Details Get a Quote
EGFL6 Knockout HEK293 Cell Line EDJ-KQ8331 Human 25975 Details Get a Quote
EGFLAM Knockout HEK293 Cell Line EDJ-KQ9319 Human 133584 Details Get a Quote
EGFL8 Knockout HEK293 Cell Line EDJ-KQ9592 Human 80864 Details Get a Quote
EGFL7 Knockout HEK293 Cell Line EDJ-KQ10955 Human 51162 Details Get a Quote
EGF Knockout HEK293 Cell Line EDC08274 Human 1950 Details Get a Quote
EGFR Knockout HEK293 Cell Line EDJ-KQ17816 Human 1956 Details Get a Quote
EGFR Knockout A-549 Cell Line EDJ-KQ18061 Human 1956 Details Get a Quote
EGFR Knockout HeLa Cell Line EDJ-KQ19162 Human 1956 Details Get a Quote
EGFL8 Knockout HCT 116 Cell Line EDJ-KQ35161 Human 80864 Details Get a Quote
EGFLAM Knockout HeLa Cell Line EDJ-KQ35942 Human 133584 Details Get a Quote
EGF Knockout A-549 Cell Line EDJ-KQ18766 Human 1950 Details Get a Quote
EGFR Knockout HCT 116 Cell Line EDJ-KQ20516 Human 1956 Details Get a Quote
EGFL8 Knockout A-549 Cell Line EDJ-KQ36425 Human 80864 Details Get a Quote
EGFL8 Knockout HeLa Cell Line EDJ-KQ36426 Human 80864 Details Get a Quote

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/1950
OMIM https://www.omim.org/entry/131530
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3229
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138798
UniProt https://www.uniprot.org/uniprot/P01133
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=EGF%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=EGF
Contact Us
*
*
*
How did you hear about us：
✖ service online