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

Gene ID: 1956, updated on 2-Oct-2022

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
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Genomic context

See EGFR in Genome Data Viewer
Location:
7p11.2
Exon count:
32
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (55019017..55211628)
110 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_000007.14Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 5 pseudogene Neighboring gene uncharacterized LOC105375284 Neighboring gene EGFR antisense RNA 1 Neighboring gene solute carrier family 19 member 3 pseudogene Neighboring gene EGFR long non-coding downstream RNA Neighboring gene calmodulin 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 PubMed 
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
PubMed 
enables epidermal growth factor receptor activity IBA
Inferred from Biological aspect of Ancestor
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 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 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
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 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 reactive oxygen species IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebral cortex cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in digestive tract morphogenesis 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 learning or memory ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ossification NAS
Non-traceable Author Statement
more info
PubMed 
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 NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of miRNA transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of nitric oxide mediated signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of peptidyl-serine phosphorylation 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 protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 protein tyrosine kinase activity 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 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 nitric-oxide synthase activity IDA
Inferred from Direct Assay
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 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to UV-A IDA
Inferred from Direct Assay
more info
PubMed 
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 transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in viral entry into host cell 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
 
is_active_in basal plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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
PubMed 
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

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
NP_001333827.1
NP_001333828.1
NP_001333829.1
NP_001333870.1
NP_005219.2
NP_958439.1
NP_958440.1
NP_958441.1
XP_047275908.1
XP_047275909.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_007726.3 RefSeqGene

    Range
    5001..193307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_304

mRNA and Protein(s)

  1. NM_001346897.2NP_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
  2. NM_001346898.2NP_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
  3. NM_001346899.2NP_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
  4. NM_001346900.2NP_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
    Related
    ENSP00000413354.2, ENST00000450046.2
  5. NM_001346941.2NP_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
  6. NM_005228.5NP_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, Q9UMG5
    UniProtKB/TrEMBL
    F2YGG7, Q504U8
    Related
    ENSP00000275493.2, ENST00000275493.7
    Conserved Domains (8) summary
    smart00219
    Location:713968
    TyrKc; Tyrosine kinase, catalytic domain
    cd12093
    Location:634677
    TM_ErbB1; Transmembrane domain of Epidermal Growth Factor Receptor or ErbB1, a Protein Tyrosine Kinase
    smart00261
    Location:552598
    FU; Furin-like repeats
    cd00064
    Location:231274
    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:7041016
    PTKc_EGFR; Catalytic domain of the Protein Tyrosine Kinase, Epidermal Growth Factor Receptor
    pfam00757
    Location:185335
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:57168
    Recep_L_domain; Receptor L domain
    pfam14843
    Location:505637
    GF_recep_IV; Growth factor receptor domain IV
  7. NM_201282.2NP_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:552598
    FU; Furin-like repeats
    cd00064
    Location:231274
    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:185335
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:57168
    Recep_L_domain; Receptor L domain
    pfam14843
    Location:505627
    GF_recep_IV; Growth factor receptor domain IV
  8. NM_201283.2NP_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:231274
    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:185335
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:57168
    Recep_L_domain; Receptor L domain
  9. NM_201284.2NP_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, ENST00000344576.7
    Conserved Domains (5) summary
    smart00261
    Location:552598
    FU; Furin-like repeats
    cd00064
    Location:231274
    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:185335
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:57168
    Recep_L_domain; Receptor L domain
    pfam14843
    Location:505627
    GF_recep_IV; Growth factor receptor domain IV

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    55019017..55211628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_047419952.1XP_047275908.1  epidermal growth factor receptor isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    55178937..55372056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)