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
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:: 31

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (55019017..55211628)
105.20201022	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?

Insulin and epidermal growth factor receptor family members share parallel activation mechanisms.
Title: Insulin and epidermal growth factor receptor family members share parallel activation mechanisms.
Deficiency of GABARAP but not its Paralogs Causes Enhanced EGF-induced EGFR Degradation.
Title: Deficiency of GABARAP but not its Paralogs Causes Enhanced EGF-induced EGFR Degradation.
Epidermal growth factor receptor-dependent DNA repair promotes murine and human hematopoietic regeneration.
Title: Epidermal growth factor receptor-dependent DNA repair promotes murine and human hematopoietic regeneration.
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Title: Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation.
Therapeutic options for advanced epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer: a Bayesian network secondary analysis.
Title: Therapeutic options for advanced epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer: a Bayesian network secondary analysis.
Long noncoding RNA XIST regulates the EGF receptor to promote TGF-beta1-induced epithelial-mesenchymal transition in pancreatic cancer.
Title: Long noncoding RNA XIST regulates the EGF receptor to promote TGF-β1-induced epithelial-mesenchymal transition in pancreatic cancer.
Anti-Metastatic Activity of an Anti-EGFR Monoclonal Antibody against Metastatic Colorectal Cancer with KRAS p.G13D Mutation.
Title: Anti-Metastatic Activity of an Anti-EGFR Monoclonal Antibody against Metastatic Colorectal Cancer with <i>KRAS</i> p.G13D Mutation.
Clinicopathological characteristics of lung adenocarcinoma with compound EGFR mutations.
Title: Clinicopathological characteristics of lung adenocarcinoma with compound EGFR mutations.
Adaptive ERK signalling activation in response to therapy and in silico prognostic evaluation of EGFR-MAPK in HNSCC.
Title: Adaptive ERK signalling activation in response to therapy and in silico prognostic evaluation of EGFR-MAPK in HNSCC.
Clinical impact of uncommon epidermal growth factor receptor exon 19 insertion-deletion variants on epidermal growth factor receptor-tyrosine kinase inhibitor efficacy in non-small-cell lung cancer.
Title: Clinical impact of uncommon epidermal growth factor receptor exon 19 insertion-deletion variants on epidermal growth factor receptor-tyrosine kinase inhibitor efficacy in non-small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (5021)

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
Chromosome 7p11.2 (EGFR) variation influences glioma risk. GeneReviews: Not available
Inflammatory skin and bowel disease, neonatal, 2 MedGen: C4015130 OMIM: 616069 GeneReviews: Not available	Compare labs
Panitumumab response MedGen: CN077999 GeneReviews: Not available	Compare labs

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

Homology

Homologs of the EGFR gene: The EGFR gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 340 organisms have orthologs with human gene EGFR
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
ERBB2 signaling pathway	TAS Traceable Author Statement more info
MAPK cascade	TAS Traceable Author Statement more info
activation of MAPKK activity	IEA Inferred from Electronic Annotation more info
activation of phospholipase A2 activity by calcium-mediated signaling	TAS Traceable Author Statement more info	PubMed
activation of phospholipase C activity	TAS Traceable Author Statement more info	PubMed
astrocyte activation	IEA Inferred from Electronic Annotation more info
cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to cadmium ion	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
cellular response to drug	IEA Inferred from Electronic Annotation more info
cellular response to epidermal growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
cellular response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
cellular response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
circadian rhythm	IEA Inferred from Electronic Annotation more info
diterpenoid metabolic process	IEA Inferred from Electronic Annotation more info
epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
epidermal growth factor receptor signaling pathway	TAS Traceable Author Statement more info
hair follicle development	IEA Inferred from Electronic Annotation more info
hydrogen peroxide metabolic process	IEA Inferred from Electronic Annotation more info
learning or memory	ISS Inferred from Sequence or Structural Similarity more info
liver regeneration	IEA Inferred from Electronic Annotation more info
lung development	IEA Inferred from Electronic Annotation more info
magnesium ion homeostasis	IEA Inferred from Electronic Annotation more info
membrane organization	TAS Traceable Author Statement more info
midgut development	IEA Inferred from Electronic Annotation more info
multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of ERBB signaling pathway	TAS Traceable Author Statement more info
negative regulation of Notch signaling pathway	TAS Traceable Author Statement more info
negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cardiocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of epidermal growth factor receptor signaling pathway	TAS Traceable Author Statement more info
negative regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
negative regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
neuron projection morphogenesis	IEA Inferred from Electronic Annotation more info
ossification	NAS Non-traceable Author Statement more info	PubMed
ovulation cycle	IEA Inferred from Electronic Annotation more info
peptidyl-tyrosine autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
peptidyl-tyrosine autophosphorylation	TAS Traceable Author Statement more info	PubMed
peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of DNA repair	IDA Inferred from Direct Assay more info	PubMed
positive regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of NIK/NF-kappaB signaling	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of bone resorption	IEA Inferred from Electronic Annotation more info
positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cyclin-dependent protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of epithelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
positive regulation of kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of nitric oxide mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed
positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of production of miRNAs involved in gene silencing by miRNA	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of prolactin secretion	IEA Inferred from Electronic Annotation more info
positive regulation of protein kinase B signaling	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein kinase B signaling	TAS Traceable Author Statement more info
positive regulation of protein kinase C activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of superoxide anion generation	IEA Inferred from Electronic Annotation more info
positive regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
protein insertion into membrane	TAS Traceable Author Statement more info	PubMed
regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell motility	TAS Traceable Author Statement more info
regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of phosphatidylinositol 3-kinase signaling	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info
response to UV-A	IDA Inferred from Direct Assay more info	PubMed
response to calcium ion	IEA Inferred from Electronic Annotation more info
response to cobalamin	IEA Inferred from Electronic Annotation more info
response to hydroxyisoflavone	IEA Inferred from Electronic Annotation more info
response to osmotic stress	IEA Inferred from Electronic Annotation more info
signal transduction	IDA Inferred from Direct Assay more info	PubMed
signal transduction	TAS Traceable Author Statement more info
tongue development	IEA Inferred from Electronic Annotation more info
translation	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
viral entry into host cell	IEA Inferred from Electronic Annotation more info
wound healing	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: epidermal growth factor receptor

Names: 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

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

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

E7BSV0, F2YGG7, Q504U8
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

Consensus CDS

CCDS87506.1

UniProtKB/TrEMBL

E9PFD7, F2YGG7, Q504U8

Related

ENSP00000395243.3, ENST00000454757.6
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

UniProtKB/TrEMBL

B7Z2I3, F2YGG7
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
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

P00533

UniProtKB/TrEMBL

F2YGG7, Q504U8

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/Swiss-Prot

P00533

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/Swiss-Prot

P00533

Related

ENSP00000345973.2, ENST00000344576.6

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