EGF

Chr 4AR

epidermal growth factor

Also known as: HOMG4, URG

This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Hypomagnesemia 4, renalMIM #611718
AR

Clinical highlights

Gene-disease validity (ClinGen)
renal hypomagnesemia 4 · ARLimitednot for standalone diagnostic reporting
12
Active trials
1330
Pubs (1 yr)
P/LP submissions
P/LP missense
0.74
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — EGF
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 3.29
OE 0.56 (0.430.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.94Z-score
OE missense 0.90 (0.830.96)
571 obs / 637.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.430.74)
00.351.4
Missense OE?0.90 (0.830.96)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 37 / 65.8Missense obs/exp: 571 / 637.7Syn Z: -0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EGF · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Biliary Tract CancerHER2 Gene MutationHER2

Efficacy and Safety of GemCis Plus Trastuzumab Plus Pembrolizumab in Previously Untreated HER2-positive Biliary Tract Cancer

ACTIVE NOT RECRUITING
NCT06178445Phase PHASE2Institut für Klinische Krebsforschung IKF GmbH at Krankenhaus NordwestStarted 2024-04-17
SOC plus trastuzumab and pembrolizumab
Breast Cancer

QL1706 Plus Neoadjuvant Endocrine Therapy in HR-Positive/HER2-Negative Breast Cancer With a Poor Response to Neoadjuvant Chemotherapy

NOT YET RECRUITING
NCT07782840Phase PHASE2Hebei Medical University Fourth HospitalStarted 2026-10-01
Iparomlimab and Tuvonralimab (QL1706)Aromatase Inhibitor (AI)CDK4/6 inhibitor
Advanced Solid Tumors

Safety of Recombinant Human IL-21-expressing Oncolytic Vaccinia Virus Injection (hV01) in Advanced Tumors

ACTIVE NOT RECRUITING
NCT05914376Phase PHASE1Hangzhou Converd Co., Ltd.Started 2023-07-05
Recombinant human IL-21-expressing oncolytic vaccinia virus injection
Non Small Cell Lung CancerRET Gene MutationMET Amplification

The Efficacy and Safety of LMV-12 Combined With Osimertinib in NSCLC

RECRUITING
NCT06109558Phase PHASE1, PHASE2Hunan Province Tumor HospitalStarted 2023-12-31
LMV-12(HE003)
Breast Cancer

A Study to Investigate Mechanisms of Resistance to Breast Cancer Therapies

RECRUITING
NCT06274515Phase PHASE4Hoffmann-La RocheStarted 2024-04-02
Tumor Tissue and Blood Draw
Breast Cancer

Elacestrant and Exemestane for Patients With Pretreated HR+/HER2- Metastatic Breast Cancer and [18F] FES-avid Lesions (COMBINE)

RECRUITING
NCT07395336Phase PHASE2European Institute of OncologyStarted 2026-05-11
elacestrant and exemestane
Carcinoma, Non-Small Cell Lung

Quaratusugene Ozeplasmid (Reqorsa) and Osimertinib in Patients With Advanced Lung Cancer Who Progressed on Osimertinib

RECRUITING
NCT04486833Phase PHASE1, PHASE2Genprex, Inc.Started 2021-09-03
quaratusugene ozeplasmidosimertinibPlatinum-Based Chemotherapy
Breast Cancer

Identification of HER2-Positive Breast Cancer Molecular Characterization and Subtypes

NOT YET RECRUITING
NCT07187752Phase NAShandong Cancer Hospital and InstituteStarted 2025-09-30
TrastuzumabPertuzumabChemotherapy
HER2-positive Breast Cancer

Markers to Evaluate the Efficacy of PH-based Regimen as a Neoadjuvant Therapy for Operable HER2 Positive Breast Cancer

RECRUITING
NCT04281641Phase NAFudan UniversityStarted 2020-04-21
TCHP
NSCLCTNBC

A Phase II Clinical Study to Evaluate the Safety, Pharmacokinetic Profile, and Preliminary Efficacy of IMM2510 in Combination with Chemotherapy As First-line Treatment in Subjects with Non-small Cell Lung Cancer or Triple-negative Breast Cancer

NOT YET RECRUITING
NCT06746870Phase PHASE2ImmuneOnco Biopharmaceuticals (Shanghai) Inc.Started 2024-12
IMM2510Chemotherapy (pemetrexed + cisplatin/carboplatin)Chemotherapy (paclitaxel + cisplatin/carboplatin)
Breast NeoplasmsTriple Negative Breast NeoplasmsHR Low-Positive/HER2-Negative Breast Neoplasms

A Clinical Study of Sacituzumab Tirumotecan (Sac-TMT, MK-2870) in People With Breast Cancer (MK-2870-032)

RECRUITING
NCT06966700Phase PHASE3Merck Sharp & Dohme LLCStarted 2025-06-30
Sacituzumab tirumotecanPembrolizumabRescue Medication
Carcinoma, Non-Small-Cell Lung

A Study of Neoadjuvant Amivantamab With Either Lazertinib or Chemotherapy in Participants With Resectable EGFR-Mutated NSCLC

RECRUITING
NCT07586202Phase PHASE2Janssen Research & Development, LLCStarted 2026-07-28
AmivantamabLazertinibCarboplatin