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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]

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 RET signaling and Internalization of ErbB1. GO annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is LRP1B.

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

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

Genomics for EGF Gene

Regulatory Elements for EGF Gene

Enhancers for EGF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F109973 0.5 Ensembl 19.3 +60.3 60318 0.4 ZNF512 PRDM1 EGF ENSG00000250511 GC04P109993
GH04F109967 1.4 Ensembl ENCODE 19.2 +55.2 55194 1.1 ZNF217 GATA3 CTBP1 JUN DPF2 FOS FOSL2 EGF ENSG00000250511 GC04P109993
GH04F109969 0.5 Ensembl ENCODE 17.1 +57.2 57219 1.0 SOX13 SP5 CEBPA CEBPB CEBPG EGF ENSG00000250511 GC04P109993
GH04F109947 0.2 ENCODE 16.4 +34.9 34874 0.9 FOS EGF LRIT3 GC04P109993
GH04F109979 1.3 Ensembl ENCODE 15.9 +67.5 67533 1.2 PRDM10 MAFK EGF ENSG00000250511 LRIT3 GAR1 GC04P109993
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EGF on UCSC Golden Path with GeneCards custom track

Promoters for EGF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001862283 717 2001 PKNOX1 GTF2E2 JUN ZNF175 ZNF316 NFE2 MAFK NFE2L2 NR2F1 MAFG

Genomic Location for EGF Gene

Chromosome:
4
Start:
109,912,883 bp from pter
End:
110,012,962 bp from pter
Size:
100,080 bases
Orientation:
Plus strand

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 Asn 38, Asn 104, Asn 117, Asn 148, Asn 324, Asn 404, Asn 596, Asn 815, Asn 926, Ser 954, and Thr 955
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EGF Gene

Domains & Families for EGF Gene

Suggested Antigen Peptide Sequences for EGF Gene

Graphical View of Domain Structure for InterPro Entry

P01133

UniProtKB/Swiss-Prot:

EGF_HUMAN :
  • Contains 9 EGF-like domains.
  • Contains 9 LDL-receptor class B repeats.
Domain:
  • Contains 9 EGF-like domains.
Similarity:
  • Contains 9 LDL-receptor class B repeats.
genes like me logo Genes that share domains with EGF: view

No data available for Gene Families 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:

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

Flow Cytometry Products

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
Jensen Localization Image for EGF Gene COMPARTMENTS Subcellular localization image for EGF gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 3
endoplasmic reticulum 3
endosome 3
nucleus 3
cytosol 2
golgi apparatus 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for EGF Gene

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

Pathways & Interactions for EGF Gene

SuperPathways for EGF Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GPCR Pathway
4 GAB1 signalosome
5 Glioma
.51
.43
genes like me logo Genes that share pathways with EGF: view

Pathways by source for EGF Gene

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, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sucralfate Approved Pharma Target, inducer 10
Cetuximab Approved Pharma EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 737
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2829
Ephedrine Approved Pharma Partial agonist, Agonist 606
Pseudoephedrine Approved Pharma 606

(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
AV 412
451492-95-8
CP 724714
383432-38-0
PF 6274484
1035638-91-5

(5) Tocris Compounds for EGF Gene

Compound Action Cas Number
AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor 133550-30-8
AV 412 Potent inhibitor of EGFR, ErbB2 and Abl receptor tyrosine kinases 451492-95-8
CP 724714 Potent and selective ErbB2 inhibitor 383432-38-0
Iressa Orally active, selective EGFR inhibitor 184475-35-2
PF 6274484 High affinity and potent covalent EGFR kinase inhibitor 1035638-91-5
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:

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with EGF: view

Primer Products

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 34 35
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia EGF 34 35
  • 85.8 (n)
cow
(Bos Taurus)
Mammalia EGF 34
  • 80.85 (n)
mouse
(Mus musculus)
Mammalia Egf 34 16 35
  • 76.73 (n)
rat
(Rattus norvegicus)
Mammalia Egf 34
  • 76.67 (n)
oppossum
(Monodelphis domestica)
Mammalia EGF 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGF 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves EGF 34 35
  • 65.75 (n)
lizard
(Anolis carolinensis)
Reptilia EGF 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egf 34
  • 58.85 (n)
zebrafish
(Danio rerio)
Actinopterygii egf 34 35
  • 53.87 (n)
Dr.27130 34
fruit fly
(Drosophila melanogaster)
Insecta yl 35
  • 11 (a)
ManyToMany
LRP1 35
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea egg-2 35
  • 18 (a)
ManyToMany
rme-2 35
  • 17 (a)
ManyToMany
egg-1 35
  • 16 (a)
ManyToMany
ZC101.1 35
  • 12 (a)
ManyToMany
lrp-2 35
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs121434567 Hypomagnesemia 4 (HOMG4) [MIM:611718], Pathogenic 110,004,540(+) GAATC(C/T)TTATG nc-transcript-variant, reference, missense
rs4444903 drug-response 109,912,954(+) GTTGT(A/G)GCTGG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10002835 -- 109,927,648(+) gaacc(C/T)gggag intron-variant
rs10002971 -- 109,974,894(+) AAACC(A/C)AGAAA intron-variant
rs10010695 -- 110,005,574(+) TTTCC(A/G)AAAAG intron-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)

Relevant External Links for EGF Gene

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

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

Disorders for EGF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypomagnesemia 4, renal
  • renal hypomagnesemia 4
familial primary hypomagnesemia with normocalciuria and normocalcemia
breast cyst
  • cyst of breast
adamantinoma of long bones
  • long bone adamantinoma
tongue squamous cell carcinoma
  • squamous-cell carcinoma
- 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.

Relevant External Links for EGF

Genetic Association Database (GAD)
EGF
Human Genome Epidemiology (HuGE) Navigator
EGF
Tumor Gene Database (TGDB):
EGF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EGF
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. (Hum. Immunol. 2008) 3 22 46 64
  2. A functional epidermal growth factor (EGF) polymorphism, EGF serum levels, and esophageal adenocarcinoma risk and outcome. (PMID: 18483390) Lanuti M. … Christiani D.C. (Clin. Cancer Res. 2008) 3 22 46 64
  3. Polymorphisms in angiogenesis-related genes and prostate cancer. (PMID: 18398039) Jacobs E.J. … Rodriguez C. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 22 46 64
  4. Epidermal growth factor gene functional polymorphism and the risk of hepatocellular carcinoma in patients with cirrhosis. (PMID: 18167406) Tanabe K.K. … Fuchs B.C. (JAMA 2008) 3 22 46 64
  5. EGF promoter SNPs, plasma EGF levels and risk of breast cancer in Chinese women. (PMID: 17940864) Wang Y. … Shen H. (Breast Cancer Res. Treat. 2008) 3 22 46 64

Products for EGF Gene

  • Addgene plasmids for EGF

Sources for EGF Gene

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