EGF Chromosome 4
Epidermal growth factor
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What This Gene Does
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]
Associated Conditions (3)
Renal hypomagnesemia 4
EGF-related disorder
Acute myeloid leukemia
Key Variants
RS139266578
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS140319442
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS140682556
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS140730971
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS141644661
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS143612590
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS150311153
Conflicting classifications of pathogenicity
EGF-related disorder, EGF-related disorder
Health Risk
RS199756953
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Acute myeloid leukemia, Renal hypomagnesemia 4
Health Risk
RS200400376
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS200524686
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS201101453
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS368323208
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139266578 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS140319442 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS140682556 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS140730971 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS141644661 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS143612590 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS150311153 | Health Risk | Conflicting classifications of pathogenicity | EGF-related disorder, EGF-related disorder |
| RS199756953 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Acute myeloid leukemia, Renal hypomagnesemia 4 |
| RS200400376 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS200524686 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS201101453 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS368323208 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS375886742 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS376855018 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS377445081 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS41468451 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS548762791 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS760507781 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS76275519 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763336139 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4 |
| RS764312466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767958539 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS971946479 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |
| RS764061176 | Health Risk | Likely pathogenic | — |
| RS121434567 | Health Risk | Pathogenic | Renal hypomagnesemia 4, Renal hypomagnesemia 4 |