Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EGF Gene

Aliases for EGF Gene

  • Epidermal Growth Factor 2 3 5
  • Epidermal Growth Factor (Beta-Urogastrone) 2
  • Pro-Epidermal Growth Factor 3
  • Beta-Urogastrone 3
  • HOMG4 3
  • URG 3

External Ids for EGF Gene

Previous GeneCards Identifiers for EGF Gene

  • GC04P111240
  • GC04P111104
  • GC04P111292
  • GC04P111191
  • GC04P110834
  • GC04P106566

Summaries for EGF Gene

Entrez Gene Summary for EGF Gene

  • 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]

CIViC summary for EGF Gene

GeneCards Summary for EGF Gene

EGF (Epidermal Growth Factor) is a Protein Coding gene. Diseases associated with EGF include Hypomagnesemia 4, Renal and Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia. Among its related pathways are G-protein signaling N-RAS regulation pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is NID2.

UniProtKB/Swiss-Prot for EGF Gene

  • EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941).

Tocris Summary for EGF Gene

  • The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase of the ErbB family. Four members of the ErbB family have been identified; EGFR (ErbB1, HER1), ErbB2 (HER2), ErbB3 (HER3) and ErbB4 (HER4). EGFR signaling drives many cellular responses.

Gene Wiki entry for EGF Gene

Additional gene information for EGF Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGF Gene

Genomics for EGF Gene

GeneHancer (GH) Regulatory Elements for EGF Gene

Promoters and enhancers for EGF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I109912 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 558.8 +1.7 1656 4.6 PKNOX1 LEF1 NFATC3 GTF2E2 JUN FOSL1 CC2D1A CTBP1 ZNF316 POLR2A EGF LRIT3 GC04P109993
GH04I109969 Enhancer 0.8 Ensembl ENCODE 17.1 +57.2 57218 0.9 SOX13 FOXA2 SP5 CEBPB CEBPG NR2F2 GABPA CEBPA VEZF1 EGF ENSG00000250511 GC04P109993
GH04I109967 Enhancer 0.6 ENCODE 19.2 +55.2 55193 1.1 SMARCE1 DPF2 ZNF217 GATA3 JUND CTBP1 CREB1 FOS FOSL2 EGF ENSG00000250511 GC04P109993
GH04I110532 Enhancer 1 Ensembl ENCODE 10.5 +621.1 621082 2.2 ELF3 PKNOX1 FOXA2 INSM2 FEZF1 DNMT3B ZNF335 ZNF366 FOS ZNF280D ENPEP RNU6-35P EGF ENSG00000250511 PANCR
GH04I110058 Enhancer 0.9 Ensembl ENCODE 11.1 +147.3 147282 2.6 ZMYM3 BATF ZNF316 ATF7 ETV6 MAFK IKZF2 RUNX3 SMARCA5 CBFB ELOVL6 RNU6-35P EGF LRIT3 GC04M110046 RN7SL275P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EGF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EGF gene promoter:

Genomic Locations for EGF Gene

Genomic Locations for EGF Gene
chr4:109,912,883-110,012,962
(GRCh38/hg38)
Size:
100,080 bases
Orientation:
Plus strand
chr4:110,834,040-110,934,118
(GRCh37/hg19)

Genomic View for EGF Gene

Genes around EGF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGF Gene

Proteins for EGF Gene

  • Protein details for EGF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01133-EGF_HUMAN
    Recommended name:
    Pro-epidermal growth factor
    Protein Accession:
    P01133
    Secondary Accessions:
    • B4DRK7
    • E7EVD2
    • E9PBF0
    • Q52LZ6

    Protein attributes for EGF Gene

    Size:
    1207 amino acids
    Molecular mass:
    133994 Da
    Quaternary structure:
    • Interacts with EGFR and promotes EGFR dimerization. Interacts with RHBDF2 (By similarity). Interacts with RHBDF1; may retain EGF in the endoplasmic reticulum and regulates its degradation through the endoplasmic reticulum-associated degradation (ERAD).
    SequenceCaution:
    • Sequence=AAR84237.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EGF Gene

    Alternative splice isoforms for EGF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGF Gene

Post-translational modifications for EGF Gene

  • O-glycosylated with core 1-like and core 2-like glycans. It is uncertain if Ser-954 or Thr-955 is O-glycosylated. The modification here shows glycan heterogeneity: HexHexNAc (major) and Hex2HexNAc2 (minor).
  • Glycosylation at posLast=3838, Asn104, Asn117, posLast=148148, posLast=324324, Asn404, Asn596, Asn815, posLast=926926, posLast=954954, and Thr955
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for EGF

No data available for DME Specific Peptides for EGF Gene

Domains & Families for EGF Gene

Gene Families for EGF Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for EGF Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EGF: view

No data available for UniProtKB/Swiss-Prot for EGF Gene

Function for EGF Gene

Molecular function for EGF Gene

GENATLAS Biochemistry:
epidermal growth factor,6kDa,synthesized as a large preprotein,EGF membrane glycoprotein also containing nine EGF repeats and urogastrone
UniProtKB/Swiss-Prot Function:
EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941).

LifeMap Function Summary for EGF Gene

EGF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for EGF Gene

Gene Ontology (GO) - Molecular Function for EGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005154 epidermal growth factor receptor binding TAS 9712850
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 2790960
genes like me logo Genes that share ontologies with EGF: view
genes like me logo Genes that share phenotypes with EGF: view

Human Phenotype Ontology for EGF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EGF Gene

MGI Knock Outs for EGF:

Animal Model Products

Clone Products

  • Addgene plasmids for EGF

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EGF Gene

Localization for EGF Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGF Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EGF gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
cytoskeleton 3
nucleus 3
endoplasmic reticulum 3
endosome 3
mitochondrion 2
peroxisome 2
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for EGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,HDA 16502470
GO:0005765 lysosomal membrane HDA,IDA 17897319
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EGF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EGF Gene

Pathways & Interactions for EGF Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GPCR Pathway
4 PI3K/AKT activation
5 Signaling by ERBB2
genes like me logo Genes that share pathways with EGF: view

SIGNOR curated interactions for EGF Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity IEA --
GO:0000187 activation of MAPK activity IEA --
GO:0001525 angiogenesis IDA 15611079
GO:0002092 positive regulation of receptor internalization IDA 22732145
genes like me logo Genes that share ontologies with EGF: view

Drugs & Compounds for EGF Gene

(89) Drugs for EGF Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sucralfate Approved Pharma Target, inducer 12
Cetuximab Approved Pharma EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 784
calcium Approved Nutra 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113
Ephedrine Approved Pharma Partial agonist, Agonist 664

(67) Additional Compounds for EGF Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-Alpha-aminobutyric acid
  • (+)-2-Aminobutanoate
  • (+)-2-Aminobutanoic acid
  • (+)-2-Aminobutyric acid
  • (+)-alpha-Aminobutyric acid
  • (-)-2-Aminobutyric acid
1492-24-6
AG 490
133550-30-8
CP 724714
383432-38-0

(4) Tocris Compounds for EGF Gene

Compound Action Cas Number
AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor 133550-30-8
CGP 52411 EGFR inhibitor. Also inhibits Abeta42 fibril formation 145915-58-8
CP 724714 Potent and selective ErbB2 inhibitor 383432-38-0
Genistein EGFR kinase inhibitor. Also estrogen and PPARgamma ligand 446-72-0
genes like me logo Genes that share compounds with EGF: view

Transcripts for EGF Gene

Unigene Clusters for EGF Gene

Epidermal growth factor:
Representative Sequences:

Clone Products

  • Addgene plasmids for EGF

Alternative Splicing Database (ASD) splice patterns (SP) for EGF Gene

No ASD Table

Relevant External Links for EGF Gene

GeneLoc Exon Structure for
EGF
ECgene alternative splicing isoforms for
EGF

Expression for EGF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EGF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EGF Gene

This gene is overexpressed in Muscle - Skeletal (x18.0), Pancreas (x15.0), and Kidney - Cortex (x5.9).

Protein differential expression in normal tissues from HIPED for EGF Gene

This gene is overexpressed in Urine (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EGF Gene



Protein tissue co-expression partners for EGF Gene

NURSA nuclear receptor signaling pathways regulating expression of EGF Gene:

EGF

SOURCE GeneReport for Unigene cluster for EGF Gene:

Hs.419815

mRNA Expression by UniProt/SwissProt for EGF Gene:

P01133-EGF_HUMAN
Tissue specificity: Expressed in kidney, salivary gland, cerebrum and prostate.

Evidence on tissue expression from TISSUES for EGF Gene

  • Kidney(4.7)
  • Intestine(4.5)
  • Nervous system(3.2)
  • Blood(3)
  • Muscle(3)
  • Pancreas(2.9)
  • Heart(2.7)
  • Liver(2.7)
  • Lung(2.7)
  • Skin(2.7)
  • Eye(2.6)
  • Adrenal gland(2.4)
  • Stomach(2.3)
  • Thyroid gland(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EGF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • meninges
  • neck
  • parathyroid
  • skull
  • thyroid
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with EGF: view

Orthologs for EGF Gene

This gene was present in the common ancestor of animals.

Orthologs for EGF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EGF 33 34
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia EGF 33 34
  • 85.8 (n)
cow
(Bos Taurus)
Mammalia EGF 33
  • 80.85 (n)
mouse
(Mus musculus)
Mammalia Egf 33 16 34
  • 76.73 (n)
rat
(Rattus norvegicus)
Mammalia Egf 33
  • 76.67 (n)
oppossum
(Monodelphis domestica)
Mammalia EGF 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGF 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves EGF 33 34
  • 65.75 (n)
lizard
(Anolis carolinensis)
Reptilia EGF 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egf 33
  • 58.85 (n)
zebrafish
(Danio rerio)
Actinopterygii egf 33 34
  • 53.87 (n)
Dr.27130 33
fruit fly
(Drosophila melanogaster)
Insecta yl 34
  • 11 (a)
ManyToMany
LRP1 34
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea egg-2 34
  • 18 (a)
ManyToMany
rme-2 34
  • 17 (a)
ManyToMany
egg-1 34
  • 16 (a)
ManyToMany
ZC101.1 34
  • 12 (a)
ManyToMany
lrp-2 34
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
ManyToMany
Species where no ortholog for EGF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EGF Gene

ENSEMBL:
Gene Tree for EGF (if available)
TreeFam:
Gene Tree for EGF (if available)

Paralogs for EGF Gene

Paralogs for EGF Gene

(8) SIMAP similar genes for EGF Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EGF: view

Variants for EGF Gene

Sequence variations from dbSNP and Humsavar for EGF Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1012003241 uncertain-significance, Renal Hypomagnesemia, Recessive 110,011,866(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1031708815 uncertain-significance, Renal Hypomagnesemia, Recessive 110,011,562(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1040161612 uncertain-significance, Renal Hypomagnesemia, Recessive 109,913,053(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs112147938 uncertain-significance, Renal Hypomagnesemia, Recessive 110,012,384(+) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs115396821 uncertain-significance, Renal Hypomagnesemia, Recessive 109,969,118(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EGF Gene

Variant ID Type Subtype PubMed ID
esv22936 CNV loss 19812545
esv2618042 CNV insertion 19546169
esv2672203 CNV deletion 23128226
esv3601750 CNV loss 21293372
esv3601752 CNV loss 21293372
nsv290769 CNV deletion 16902084
nsv595143 CNV loss 21841781
nsv820232 CNV loss 19587683

Variation tolerance for EGF Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EGF Gene

Human Gene Mutation Database (HGMD)
EGF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGF

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGF Gene

Disorders for EGF Gene

MalaCards: The human disease database

(86) MalaCards diseases for EGF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypomagnesemia 4, renal
  • homg4
familial primary hypomagnesemia with normocalciuria and normocalcemia
adamantinoma of long bones
  • long bone adamantinoma
sebaceous adenoma
  • adenoma of the sebaceous gland
breast cyst
  • cyst of the breast
- elite association - COSMIC cancer census association via MalaCards
Search EGF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EGF_HUMAN
  • Hypomagnesemia 4 (HOMG4) [MIM:611718]: A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes. {ECO:0000269 PubMed:17671655}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EGF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EGF: view

No data available for Genatlas for EGF Gene

Publications for EGF Gene

  1. Genetic susceptibility of epidermal growth factor +61A>G and transforming growth factor beta1 -509C>T gene polymorphisms with gallbladder cancer. (PMID: 18571008) Vishnoi M … Mittal B (Human immunology 2008) 3 22 44 58
  2. A functional epidermal growth factor (EGF) polymorphism, EGF serum levels, and esophageal adenocarcinoma risk and outcome. (PMID: 18483390) Lanuti M … Christiani DC (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 44 58
  3. Polymorphisms in angiogenesis-related genes and prostate cancer. (PMID: 18398039) Jacobs EJ … Rodriguez C (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 22 44 58
  4. Epidermal growth factor gene functional polymorphism and the risk of hepatocellular carcinoma in patients with cirrhosis. (PMID: 18167406) Tanabe KK … Fuchs BC (JAMA 2008) 3 22 44 58
  5. EGF promoter SNPs, plasma EGF levels and risk of breast cancer in Chinese women. (PMID: 17940864) Wang Y … Shen H (Breast cancer research and treatment 2008) 3 22 44 58

Products for EGF Gene

  • Addgene plasmids for EGF