EGF epidermal growth factor
Gene ID: 1950, updated on 16-Apr-2024Gene type: protein coding
Also known as: URG; HOMG4
- See all available tests in GTR for this gene
- Go to complete Gene record for EGF
- Go to Variation Viewer for EGF variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants in the trichohyalin gene are associated with straight hair in Europeans. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Renal hypomagnesemia 4 | See labs |
Genomic context
- Location:
- 4q25
- Sequence:
- Chromosome: 4; NC_000004.12 (109912883..110013766)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EGF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EGF database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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