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    EGF epidermal growth factor [ Homo sapiens (human) ]

    Gene ID: 1950, updated on 12-Apr-2024

    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; AllianceGenome:HGNC:3229
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EGF in Genome Data Viewer
    Location:
    4q25
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (109912883..110013766)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (113214975..113315858)
    105.20220307 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 Neanderthal introgressed variant-containing enhancer experimental_71901 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:110900995-110902194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:110909878-110911077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21813 Neighboring gene RNA, U6 small nuclear 35, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:110972146-110973345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21815 Neighboring gene ELOVL fatty acid elongase 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71960 Neighboring gene RNA, 7SL, cytoplasmic 275, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15628 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:111119352-111120144 Neighboring gene Sharpr-MPRA regulatory region 7468 Neighboring gene uncharacterized LOC124900759 Neighboring gene CRISPRi-validated cis-regulatory element chr4.2510 Neighboring gene heat shock factor binding protein 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
    Renal hypomagnesemia 4
    MedGen: C2673648 OMIM: 611718 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants in the trichohyalin gene are associated with straight hair in Europeans.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ERBB2-EGFR signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 cerebellar granule cell precursor proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cholesterol efflux IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    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 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 cell population proliferation IMP
    Inferred from Mutant Phenotype
    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 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 peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction 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 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 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 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
     

    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 (3) 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
    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
      Consensus CDS
      CCDS93566.1
      UniProtKB/TrEMBL
      A0A494C018
      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
      B4DRK7, E7EVD2, E9PBF0, P01133, Q52LZ6
      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: 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

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      113214975..113315858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)