EGF epidermal growth factor [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 4q25

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (109912883..110013766)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (113214975..113315858)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (110834039..110934922)

Chromosome 4 - NC_000004.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ETS1 drives EGF-induced glycolytic shift and metastasis of epithelial ovarian cancer cells.
Title: ETS1 drives EGF-induced glycolytic shift and metastasis of epithelial ovarian cancer cells.
NRF2 regulates EGF stability through OTUD4 in lung adenocarcinoma.
Title: NRF2 regulates EGF stability through OTUD4 in lung adenocarcinoma.
Searching for EGF Fragments Recreating the Outer Sphere of the Growth Factor Involved in Receptor Interactions.
Title: Searching for EGF Fragments Recreating the Outer Sphere of the Growth Factor Involved in Receptor Interactions.
The association of epidermal growth factor variant with oral squamous cell carcinoma.
Title: The association of epidermal growth factor variant with oral squamous cell carcinoma.
Potential therapeutic target of EGF on bile duct ligation model and biliary atresia children.
Title: Potential therapeutic target of EGF on bile duct ligation model and biliary atresia children.
EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling.
Title: EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling.
RIZ2 at the crossroad of the EGF/EGFR signaling in colorectal cancer.
Title: RIZ2 at the crossroad of the EGF/EGFR signaling in colorectal cancer.
EGF, TGF-alpha and Amphiregulin Differently Regulate Endometrium-Derived Mesenchymal Stromal/Stem Cells.
Title: EGF, TGF-α and Amphiregulin Differently Regulate Endometrium-Derived Mesenchymal Stromal/Stem Cells.
Urinary epidermal growth factor/monocyte chemotactic peptide 1 ratio as non-invasive predictor of Mayo clinic imaging classes in autosomal dominant polycystic kidney disease.
Title: Urinary epidermal growth factor/monocyte chemotactic peptide 1 ratio as non-invasive predictor of Mayo clinic imaging classes in autosomal dominant polycystic kidney disease.
Differences in salivary secretion and epidermal growth factor concentrations in mild reflux esophagitis and non-erosive reflux disease.
Title: Differences in salivary secretion and epidermal growth factor concentrations in mild reflux esophagitis and non-erosive reflux disease.

Submit: New GeneRIF Correction See all GeneRIFs (630)

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
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 EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 (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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC4-992 (e-PCR)
- UniSTS:79463

D4S2350 (e-PCR)
- UniSTS:29306

D4S2623 (e-PCR), detects polymorphism
- UniSTS:3249

EGF_435 (e-PCR)
- UniSTS:277191

D4S3145 (e-PCR)
- UniSTS:35578

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables epidermal growth factor receptor binding	TAS Traceable Author Statement more info	PubMed
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	TAS Traceable Author Statement more info	PubMed

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 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

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: pro-epidermal growth factor

Names: beta-urogastrone

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_011441.2 RefSeqGene

Range

5000..105883

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001178130.3 → NP_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:935 → 973

PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

smart00135
Location:635 → 676

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:870 → 910

EGF_CA; Calcium-binding EGF-like domain
NM_001178131.3 → NP_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:934 → 972

PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

smart00135
Location:593 → 634

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:828 → 868

EGF_CA; Calcium-binding EGF-like domain

pfam00008
Location:793 → 822

EGF; EGF-like domain

pfam07645
Location:870 → 898

EGF_CA; Calcium-binding EGF domain

pfam14670
Location:703 → 738

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001357021.2 → NP_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:593 → 634

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:314 → 353

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:789 → 817

EGF_CA; Calcium-binding EGF domain

pfam14670
Location:703 → 738

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl28647
Location:853 → 891

PHA02887; EGF-like protein; Provisional
NM_001963.6 → NP_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:976 → 1014

PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

smart00135
Location:635 → 676

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:870 → 910

EGF_CA; Calcium-binding EGF-like domain

pfam00008
Location:835 → 864

EGF; EGF-like domain

pfam07645
Location:912 → 940

EGF_CA; Calcium-binding EGF domain

pfam14670
Location:745 → 780

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:352 → 393

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 ...