EGFR epidermal growth factor receptor
Gene ID: 1956, updated on 7-Nov-2024Gene type: protein coding
Also known as: ERBB; ERRP; HER1; mENA; ERBB1; NNCIS; PIG61; NISBD2
- See all available tests in GTR for this gene
- Go to complete Gene record for EGFR
- Go to Variation Viewer for EGFR variants
Summary
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cetuximab response MedGen: CN077967GeneReviews: Not available | See labs |
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. GeneReviews: Not available | |
| Inflammatory skin and bowel disease, neonatal, 2 | See labs |
| Lung cancer | See labs |
| Panitumumab response MedGen: CN077999GeneReviews: Not available | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-05-11) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 7p11.2
- Sequence:
- Chromosome: 7; NC_000007.14 (55019017..55211628)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EGFR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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