EGFR epidermal growth factor receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGFRprovided by HGNC
Official Full Name: epidermal growth factor receptorprovided by HGNC
Primary source: HGNC:HGNC:3236
See related: Ensembl:ENSG00000146648 MIM:131550; AllianceGenome:HGNC:3236
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ERBB; ERRP; HER1; mENA; ERBB1; PIG61; NISBD2
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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Expression: Broad expression in placenta (RPKM 36.6), skin (RPKM 15.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p11.2

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (55019017..55211628)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (55178937..55372056)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (55086710..55279321)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Extracellular domain mutations of the EGF receptor differentially modulate high-affinity and low-affinity responses to EGF receptor ligands.
Title: Extracellular domain mutations of the EGF receptor differentially modulate high-affinity and low-affinity responses to EGF receptor ligands.
The impact of EGFR T790M mutation status following the development of Osimertinib resistance on the efficacy of Osimertinib in non-small cell lung cancer: A meta-analysis.
Title: The impact of EGFR T790M mutation status following the development of Osimertinib resistance on the efficacy of Osimertinib in non-small cell lung cancer: A meta-analysis.
VGLL1 stabilization of cytoplasmic TAZ promotes EGFR expression and maintains tumor initiating cells in breast cancer independent of TEAD.
Title: VGLL1 stabilization of cytoplasmic TAZ promotes EGFR expression and maintains tumor initiating cells in breast cancer independent of TEAD.
Influence of EGFR mutation status and PD-L1 expression in stage III unresectable non-small cell lung cancer treated with chemoradiation and consolidation durvalumab.
Title: Influence of EGFR mutation status and PD-L1 expression in stage III unresectable non-small cell lung cancer treated with chemoradiation and consolidation durvalumab.
EGFR and ERBB2 Exon 20 Insertion Mutations in Chinese Non-small Cell Lung Cancer Patients: Pathological and Molecular Characterization, and First-Line Systemic Treatment Evaluation.
Title: EGFR and ERBB2 Exon 20 Insertion Mutations in Chinese Non-small Cell Lung Cancer Patients: Pathological and Molecular Characterization, and First-Line Systemic Treatment Evaluation.
SERPINE2 promotes liver cancer metastasis by inhibiting c-Cbl-mediated EGFR ubiquitination and degradation.
Title: SERPINE2 promotes liver cancer metastasis by inhibiting c-Cbl-mediated EGFR ubiquitination and degradation.
Risk Factors for Recurrence of Stage I Epidermal Growth Factor Receptor Mutated Lung Adenocarcinoma.
Title: Risk Factors for Recurrence of Stage I Epidermal Growth Factor Receptor Mutated Lung Adenocarcinoma.
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
Title: Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR[L858R]-induced lung cancer progression.
Title: PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR(L858R)-induced lung cancer progression.
Epidermal growth factor receptor (EGFR) is a target of the tumor-suppressor E3 ligase FBXW7.
Title: Epidermal growth factor receptor (EGFR) is a target of the tumor-suppressor E3 ligase FBXW7.

Submit: New GeneRIF Correction See all GeneRIFs (5708)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cetuximab response MedGen: CN077967 GeneReviews: Not available	Compare labs
Inflammatory skin and bowel disease, neonatal, 2 MedGen: C4015130 OMIM: 616069 GeneReviews: Not available	Compare labs
Lung cancer MedGen: C0242379 OMIM: 211980 GeneReviews: Not available	Compare labs
Panitumumab response MedGen: CN077999 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-05-11) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2022-05-11) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Chromosome 7p11.2 (EGFR) variation influences glioma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of epidermal growth factor receptor (EGFR) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Expression of HIV-1 Gag decreases the rate of EGFR downregulation by ESCRT proteins at endosomal membranes, an effect that is dependent on the presence of the TSG101 binding motif (PTAP) within the Gag C-terminal p6 domain	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94246 (e-PCR)
- UniSTS:85508

HSC215_(7Gr546mb) (e-PCR)
- UniSTS:255240

SHGC-106249 (e-PCR)
- UniSTS:169737

WI-21765 (e-PCR)
- UniSTS:69135

SHGC-84087 (e-PCR)
- UniSTS:104732

GDB:6028548 (e-PCR)
- UniSTS:72992

D7S1988 (e-PCR)
- UniSTS:49706

GDB:4585359 (e-PCR)
- UniSTS:41265

RH11126 (e-PCR)
- UniSTS:58166

D7S2357 (e-PCR)
- UniSTS:45113

RH71234 (e-PCR)
- UniSTS:41530

Egfr (e-PCR), detects polymorphism
- UniSTS:472898

D7S2066E (e-PCR)
- UniSTS:151119

GDB:1318577 (e-PCR)
- UniSTS:83036

EGFR_3293 (e-PCR)
- UniSTS:462174

EGFR (e-PCR)
- UniSTS:59743

D7S2550 (e-PCR), detects polymorphism
- UniSTS:5237

SHGC-57944 (e-PCR)
- UniSTS:18550

RH17519 (e-PCR)
- UniSTS:22914

GDB:181540 (e-PCR)
- UniSTS:155266

RH12420 (e-PCR)
- UniSTS:67459

GDB:4585323 (e-PCR)
- UniSTS:79769

RH119810 (e-PCR)
- UniSTS:133285

RH120939 (e-PCR)
- UniSTS:133798

NoName (e-PCR)
- UniSTS:484262

G31779 (e-PCR)
- UniSTS:1218

SHGC-58591 (e-PCR)
- UniSTS:94411

SHGC-58597 (e-PCR)
- UniSTS:94416

GDB:1317670 (e-PCR)
- UniSTS:10965

SHGC-32574 (e-PCR)
- UniSTS:79840

RH46070 (e-PCR)
- UniSTS:4086

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATPase binding	ISS Inferred from Sequence or Structural Similarity more info
enables MAP kinase kinase kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables epidermal growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables epidermal growth factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to epidermal growth factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables epidermal growth factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables epidermal growth factor receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables epidermal growth factor receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables transmembrane signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ERBB2-EGFR signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in activation of phospholipase C activity	TAS Traceable Author Statement more info	PubMed
involved_in astrocyte activation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cadmium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epidermal growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex cell migration	IEA Inferred from Electronic Annotation more info
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in diterpenoid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in embryonic placenta development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	TAS Traceable Author Statement more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in eyelid development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in midgut development	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelial fold	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epidermal growth factor receptor signaling pathway	TAS Traceable Author Statement more info
involved_in negative regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in ossification	NAS Non-traceable Author Statement more info	PubMed
involved_in ovulation cycle	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-tyrosine autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine autophosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of bone resorption	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mucus secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of prolactin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein kinase C activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of superoxide anion generation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein insertion into membrane	TAS Traceable Author Statement more info	PubMed
involved_in regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to cobalamin	IEA Inferred from Electronic Annotation more info
involved_in response to hydroxyisoflavone	IEA Inferred from Electronic Annotation more info
involved_in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info
involved_in tongue development	IEA Inferred from Electronic Annotation more info
involved_in translation	IEA Inferred from Electronic Annotation more info
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
part_of Shc-EGFR complex	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in basal plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in intracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in multivesicular body, internal vesicle lumen	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: epidermal growth factor receptor

Names: EGFR vIII; avian erythroblastic leukemia viral (v-erb-b) oncogene homolog; cell growth inhibiting protein 40; cell proliferation-inducing protein 61; epidermal growth factor receptor tyrosine kinase domain; erb-b2 receptor tyrosine kinase 1; proto-oncogene c-ErbB-1; receptor tyrosine-protein kinase erbB-1

NP_001333826.1

EC 2.7.10.1

NP_001333827.1

EC 2.7.10.1

NP_001333828.1

EC 2.7.10.1

NP_001333829.1

EC 2.7.10.1

NP_001333870.1

EC 2.7.10.1

NP_005219.2

EC 2.7.10.1

NP_958439.1

EC 2.7.10.1

NP_958440.1

EC 2.7.10.1

NP_958441.1

EC 2.7.10.1

XP_047275908.1

EC 2.7.10.1

XP_047275909.1

EC 2.7.10.1

XP_054213392.1

EC 2.7.10.1

XP_054213393.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007726.3 RefSeqGene

Range

5001..193307

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_304

mRNA and Protein(s)

NM_001346897.2 → NP_001333826.1 epidermal growth factor receptor isoform e precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an in-frame exon in the 5' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. The encoded isoform (e) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AC006977, AC073324, BC094761

Consensus CDS

CCDS87507.1

UniProtKB/TrEMBL

F2YGG7, Q504U8

Related

ENSP00000415559.1, ENST00000455089.5
NM_001346898.2 → NP_001333827.1 epidermal growth factor receptor isoform f precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) has a 3' terminal exon that extends past a splice site that is used in variant 1. The encoded isoform (f) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AC006977, AC073324, BC094761, GU255993, HQ912715

UniProtKB/TrEMBL

A9CB80, E7BSV0
NM_001346899.2 → NP_001333828.1 epidermal growth factor receptor isoform g precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (g) is shorter than isoform a.

Source sequence(s)

AC006977, AC073324, AW450657, BC094761, DA371223, HQ912715

UniProtKB/TrEMBL

F2YGG7
NM_001346900.2 → NP_001333829.1 epidermal growth factor receptor isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses a novel 5' terminal exon compared to variant 1. The encoded isoform (h) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC006977, AC073324, AK294750, AW450657, DA371223, DC347326, HQ912715

Consensus CDS

CCDS94105.1

UniProtKB/TrEMBL

B7Z2I3, C9JYS6

Related

ENSP00000413354.2, ENST00000450046.2
NM_001346941.2 → NP_001333870.1 epidermal growth factor receptor isoform i precursor

Status: REVIEWED

Description

Transcript Variant: This variant (EGFRvIII, also known as delta-EGFR and de2-7EGFR) has an in-frame deletion of six exons in the 5' coding region, compared to variant 1. The encoded isoform (i) has a shorter extracellular domain compared to isoform a. This variant is considered to be tumorigenic and the encoded protein lacks normal ligand binding ability and is constitutively active (PMID: 23777544).

Source sequence(s)

AC006977, AC073324

UniProtKB/TrEMBL

Q59FL8
NM_005228.5 → NP_005219.2 epidermal growth factor receptor isoform a precursor

See identical proteins and their annotated locations for NP_005219.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC006977, AC073324, AF125253, AU137334, AW450657, BC094761, DA371223, HQ912715, X00588

Consensus CDS

CCDS5514.1

UniProtKB/Swiss-Prot

O00688, O00732, P00533, P06268, Q14225, Q68GS5, Q92795, Q9BZS2, Q9GZX1, Q9H2C9, Q9H3C9, Q9UMD7, Q9UMD8, Q9UMG5

UniProtKB/TrEMBL

A9CB80, Q2TTR7

Related

ENSP00000275493.2, ENST00000275493.7

Conserved Domains (8) summary

smart00219
Location:713 → 968

TyrKc; Tyrosine kinase, catalytic domain

cd12093
Location:634 → 677

TM_ErbB1; Transmembrane domain of Epidermal Growth Factor Receptor or ErbB1, a Protein Tyrosine Kinase

smart00261
Location:552 → 598

FU; Furin-like repeats

cd00064
Location:231 → 274

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

cd05108
Location:704 → 1016

PTKc_EGFR; Catalytic domain of the Protein Tyrosine Kinase, Epidermal Growth Factor Receptor

pfam00757
Location:185 → 335

Furin-like; Furin-like cysteine rich region

pfam01030
Location:57 → 168

Recep_L_domain; Receptor L domain

pfam14843
Location:505 → 637

GF_recep_IV; Growth factor receptor domain IV
NM_201282.2 → NP_958439.1 epidermal growth factor receptor isoform b precursor

See identical proteins and their annotated locations for NP_958439.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different 3' terminal exon when compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus. Only the extracellular domain is present in isoform b.

Source sequence(s)

AC006977, AF125253, AF277897, AW163038, X00588

Consensus CDS

CCDS5516.1

UniProtKB/TrEMBL

Q68GS6

Related

ENSP00000342376.3, ENST00000342916.7

Conserved Domains (5) summary

smart00261
Location:552 → 598

FU; Furin-like repeats

cd00064
Location:231 → 274

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam00757
Location:185 → 335

Furin-like; Furin-like cysteine rich region

pfam01030
Location:57 → 168

Recep_L_domain; Receptor L domain

pfam14843
Location:505 → 627

GF_recep_IV; Growth factor receptor domain IV
NM_201283.2 → NP_958440.1 epidermal growth factor receptor isoform c precursor

See identical proteins and their annotated locations for NP_958440.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as ErbB1-S) uses a different 3' terminal exon when compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus. Only the extracellular domain is present in isoform c.

Source sequence(s)

AC006977, AW163038, U48722, X00588

Consensus CDS

CCDS47587.1

UniProtKB/Swiss-Prot

P00533

Related

ENSP00000413843.2, ENST00000420316.6

Conserved Domains (3) summary

cd00064
Location:231 → 274

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam00757
Location:185 → 335

Furin-like; Furin-like cysteine rich region

pfam01030
Location:57 → 168

Recep_L_domain; Receptor L domain
NM_201284.2 → NP_958441.1 epidermal growth factor receptor isoform d precursor

See identical proteins and their annotated locations for NP_958441.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses a different 3' terminal exon when compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus. Only the extracellular domain is present in isoform d.

Source sequence(s)

AC006977, AF125253, AW163038, X00588

Consensus CDS

CCDS5515.1

UniProtKB/TrEMBL

Q68GS6

Related

ENSP00000345973.2, ENST00000344576.7

Conserved Domains (5) summary

smart00261
Location:552 → 598

FU; Furin-like repeats

cd00064
Location:231 → 274

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam00757
Location:185 → 335

Furin-like; Furin-like cysteine rich region

pfam01030
Location:57 → 168

Recep_L_domain; Receptor L domain

pfam14843
Location:505 → 627

GF_recep_IV; Growth factor receptor domain IV

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

55019017..55211628

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419953.1 → XP_047275909.1 epidermal growth factor receptor isoform X1

UniProtKB/TrEMBL

C9JYS6
XM_047419952.1 → XP_047275908.1 epidermal growth factor receptor isoform X1

UniProtKB/TrEMBL

C9JYS6

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

55178937..55372056

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357418.1 → XP_054213393.1 epidermal growth factor receptor isoform X1

UniProtKB/TrEMBL

C9JYS6
XM_054357417.1 → XP_054213392.1 epidermal growth factor receptor isoform X1

UniProtKB/TrEMBL

C9JYS6