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EGF epidermal growth factor [ Homo sapiens (human) ]

Gene ID: 1950, updated on 11-Jun-2021

Summary

Official Symbol
EGFprovided by HGNC
Official Full Name
epidermal growth factorprovided by HGNC
Primary source
HGNC:HGNC:3229
See related
Ensembl:ENSG00000138798 MIM:131530
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
URG; HOMG4
Summary
This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Expression
Biased expression in kidney (RPKM 47.7), pancreas (RPKM 9.8) and 1 other tissue See more
Orthologs
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Genomic context

See EGF in Genome Data Viewer
Location:
4q25
Exon count:
26
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (109912883..110013766)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110834039..110934922)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 3 Neighboring gene keratin 19 pseudogene 3 Neighboring gene RNA, U6 small nuclear 35, pseudogene Neighboring gene ELOVL fatty acid elongase 6 Neighboring gene RNA, 7SL, cytoplasmic 275, pseudogene Neighboring gene uncharacterized LOC107986303

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
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
GeneReviews: Not available
Hypomagnesemia 4, renal
MedGen: C2673648 OMIM: 611718 GeneReviews: Not available
Compare labs
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

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

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates transcription of the transforming growth factor alpha gene in an epidermal growth factor (EGF)-dependent manner, suggesting an interaction between Tat and EGF 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

Process Evidence Code Pubs
involved_in ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
involved_in ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in MAPK cascade TAS
Traceable Author Statement
more info
 
involved_in activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of MAPKK activity IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
 
involved_in epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in epidermal growth factor receptor signaling pathway via MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane organization TAS
Traceable Author Statement
more info
 
involved_in negative regulation of ERBB signaling pathway TAS
Traceable Author Statement
more info
 
involved_in negative regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
involved_in negative regulation of cholesterol efflux IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in negative regulation of secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in platelet degranulation TAS
Traceable Author Statement
more info
 
involved_in positive regulation of DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA replication 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 MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell migration IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cerebellar granule cell precursor proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epidermal growth factor-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epidermal growth factor-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epidermal growth factor-activated receptor activity TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of epithelial tube formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of hyaluronan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of mitotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase signaling IGI
Inferred from Genetic Interaction
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
involved_in positive regulation of protein localization to early endosome IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of receptor internalization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell motility TAS
Traceable Author Statement
more info
 
involved_in regulation of protein localization to cell surface IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of receptor signaling pathway via JAK-STAT ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
pro-epidermal growth factor
Names
beta-urogastrone

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_011441.2 RefSeqGene

    Range
    5000..105883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178130.3NP_001171601.1  pro-epidermal growth factor isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC004050, AC005509, BC143357, CA437074
    Consensus CDS
    CCDS54794.1
    UniProtKB/Swiss-Prot
    P01133
    Related
    ENSP00000421384.1, ENST00000503392.1
    Conserved Domains (6) summary
    PHA03099
    Location:935973
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    smart00135
    Location:635676
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:870910
    EGF_CA; Calcium-binding EGF-like domain
    pfam00008
    Location:835864
    EGF; EGF-like domain
    pfam14670
    Location:745780
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:352393
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. NM_001178131.3NP_001171602.1  pro-epidermal growth factor isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1. This isoform (3) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC004050, AC005509, AK299306, CA437074
    Consensus CDS
    CCDS54795.1
    UniProtKB/Swiss-Prot
    P01133
    Related
    ENSP00000424316.1, ENST00000509793.5
    Conserved Domains (6) summary
    PHA03099
    Location:934972
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    smart00135
    Location:593634
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:828868
    EGF_CA; Calcium-binding EGF-like domain
    pfam00008
    Location:793822
    EGF; EGF-like domain
    pfam07645
    Location:870898
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:703738
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. NM_001357021.2NP_001343950.1  pro-epidermal growth factor isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC004050, AC005509, AK299306, CA437074
    Related
    ENSP00000498337.1, ENST00000652245.1
    Conserved Domains (5) summary
    smart00135
    Location:593634
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:314353
    EGF_CA; Calcium-binding EGF-like domain
    pfam07645
    Location:789817
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:703738
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl28647
    Location:853891
    PHA02887; EGF-like protein; Provisional
  4. NM_001963.6NP_001954.2  pro-epidermal growth factor isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001954.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC004050, AC005509, AK299306, BC093731, CA437074
    Consensus CDS
    CCDS3689.1
    UniProtKB/Swiss-Prot
    P01133
    Related
    ENSP00000265171.5, ENST00000265171.10
    Conserved Domains (7) summary
    PHA03099
    Location:9761014
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    smart00135
    Location:635676
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:870910
    EGF_CA; Calcium-binding EGF-like domain
    pfam00008
    Location:835864
    EGF; EGF-like domain
    pfam07645
    Location:912940
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:745780
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:352393
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    109912883..110013766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007845.1XP_016863334.1  pro-epidermal growth factor isoform X1

  2. XM_017007846.1XP_016863335.1  pro-epidermal growth factor isoform X3

  3. XM_017007850.1XP_016863339.1  pro-epidermal growth factor isoform X8

  4. XM_017007847.1XP_016863336.1  pro-epidermal growth factor isoform X4

  5. XM_017007849.1XP_016863338.1  pro-epidermal growth factor isoform X7

  6. XM_017007851.1XP_016863340.1  pro-epidermal growth factor isoform X9

  7. XM_017007848.1XP_016863337.1  pro-epidermal growth factor isoform X5

  8. XM_005262796.2XP_005262853.1  pro-epidermal growth factor isoform X2

    Conserved Domains (7) summary
    PHA03099
    Location:9761014
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    smart00135
    Location:635676
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:870910
    EGF_CA; Calcium-binding EGF-like domain
    pfam00008
    Location:835864
    EGF; EGF-like domain
    pfam07645
    Location:912940
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:745780
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:352393
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  9. XM_017007853.1XP_016863342.1  pro-epidermal growth factor isoform X10

  10. XM_017007855.1XP_016863344.1  pro-epidermal growth factor isoform X12

  11. XM_017007854.1XP_016863343.1  pro-epidermal growth factor isoform X11

  12. XM_011531707.1XP_011530009.1  pro-epidermal growth factor isoform X6

    Conserved Domains (7) summary
    PHA03099
    Location:939977
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    smart00135
    Location:598639
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:833873
    EGF_CA; Calcium-binding EGF-like domain
    pfam00008
    Location:798827
    EGF; EGF-like domain
    pfam07645
    Location:875903
    EGF_CA; Calcium-binding EGF domain
    pfam14670
    Location:708743
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:315356
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RNA

  1. XR_001741157.1 RNA Sequence

  2. XR_001741156.1 RNA Sequence

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