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Egfr Gene Detail
Summary
  • Symbol
    Egfr
  • Name
    epidermal growth factor receptor
  • Synonyms
    9030024J15Rik, avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, Erbb, Errb1, Wa5
  • Feature Type
    protein coding gene
  • IDs
    MGI:95294
    NCBI Gene: 13649
  • Alliance
  • Transcription Start Sites
    35 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:16702203-16868158 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 9.41 cM, cytoband A1-A4
  • Mapping Data
    58 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4618 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95294
protein coding gene Chr11:16700153-16868158 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018052
protein coding gene Chr11:14133047-14307089 (+)
A/J MGP_AJ_G0018025
protein coding gene Chr11:13651067-13817934 (+)
AKR/J MGP_AKRJ_G0017989
protein coding gene Chr11:14153588-14317748 (+)
BALB/cJ MGP_BALBcJ_G0017993
protein coding gene Chr11:13762458-13937418 (+)
C3H/HeJ MGP_C3HHeJ_G0017806
protein coding gene Chr11:14067422-14236517 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018445
protein coding gene Chr11:14736166-14912795 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016103
protein coding gene Chr11:12833148-12997977 (+)
CAST/EiJ MGP_CASTEiJ_G0017368
protein coding gene Chr11:14057045-14229410 (+)
CBA/J MGP_CBAJ_G0017781
protein coding gene Chr11:15550076-15729951 (+)
DBA/2J MGP_DBA2J_G0017891
protein coding gene Chr11:13640989-13806810 (+)
FVB/NJ MGP_FVBNJ_G0017883
protein coding gene Chr11:13432771-13597890 (+)
LP/J MGP_LPJ_G0017962
protein coding gene Chr11:14301039-14469186 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017909
protein coding gene Chr11:16001758-16171272 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018486
protein coding gene Chr11:14216978-14392836 (+)
PWK/PhJ MGP_PWKPhJ_G0017148
protein coding gene Chr11:13617472-13785201 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016945
protein coding gene Chr11:13987448-14153247 (+)
WSB/EiJ MGP_WSBEiJ_G0017422
protein coding gene Chr11:13918750-14092073 (+)



Homology
more
  • Human Ortholog
    EGFR, epidermal growth factor receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EGFR, epidermal growth factor receptor
  • Synonyms
    ERBB, ERBB1, ERRP, HER1, mENA, NISBD2, NNCIS, PIG61
  • Links
    NCBI Gene ID: 1956
    neXtProt AC: NX_P00533
    UniProt: P00533

  • Chr Location
    7p11.2; chr7:55019017-55211628 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with Egfr mouse models; 10 with human EGFR associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    196 phenotypes from 15 alleles in 30 genetic backgrounds
    87 phenotypes from multigenic genotypes
    6 images
    257 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020122 Ensembl Gene Model | MGI Sequence Detail 165956 C57BL/6J ±  kb
    transcript ENSMUST00000020329 Ensembl | MGI Sequence Detail 10208 Not Applicable  
    polypeptide ENSMUSP00000020329 Ensembl | MGI Sequence Detail 1210 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000006933 epidermal growth factor receptor
    • EC
    • InterPro Domains
      IPR044912 Epidermal growth factor receptor, juxtamembrane domain
      IPR049328 Epidermal growth factor receptor-like, transmembrane-juxtamembrane segment
      IPR006211 Furin-like cysteine-rich domain
      IPR006212 Furin-like repeat
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR032778 Growth factor receptor domain 4
      IPR017441 Protein kinase, ATP binding site
      IPR000719 Protein kinase domain
      IPR011009 Protein kinase-like domain superfamily
      IPR000494 Receptor L-domain
      IPR036941 Receptor L-domain superfamily
      IPR050122 Receptor Tyrosine Kinase
      IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
      IPR008266 Tyrosine-protein kinase, active site
      IPR020635 Tyrosine-protein kinase, catalytic domain
      IPR016245 Tyrosine protein kinase, EGF/ERB/XmrK receptor
    • GlyGen
      Q01279 10 sites, 7 N-linked glycans (7 sites)
    Molecular
    Reagents
    less
    • All nucleic 53
      Genomic 6
      cDNA 31
      Primer pair 10
      Other 6

      Microarray probesets 12
    Other
    Accession IDs
    less
    MGD-MRK-15422, MGD-MRK-15424, MGD-MRK-9322, MGD-MRK-9570, MGI:1890525, MGI:2144221
    References
    more
    • Summaries
      All 774
      Developmental Gene Expression 163
      Diseases 3
      Gene Ontology 70
      Phenotypes 257
    • Earliest
      J:13052 Keeler CE, A second rexoid coat character in the house mouse. J Hered. 1935;26(5):189-191
    • Latest
      J:354182 Sun M, et al., ERK signaling expands mammalian cortical radial glial cells and extends the neurogenic period. Proc Natl Acad Sci U S A. 2024 Mar 26;121(13):e2314802121

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory