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Gene Gene information from NCBI Gene database.
Entrez ID 1950
Gene name Epidermal growth factor
Gene symbol EGF
Synonyms (NCBI Gene)
HOMG4URG
Chromosome 4
Chromosome location 4q25
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 importan
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs4444903 A>C,G Benign, drug-response 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs121434567 C>T Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
146 Show/Hide all (146)
miRTarBase ID miRNA Experiments Reference
MIRT460845 hsa-miR-6808-5p PAR-CLIP 21572407
MIRT460844 hsa-miR-6893-5p PAR-CLIP 21572407
MIRT460843 hsa-miR-940 PAR-CLIP 21572407
MIRT460842 hsa-miR-4459 PAR-CLIP 21572407
MIRT460841 hsa-miR-4433a-3p PAR-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 2833511
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82 Show/Hide all (82)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IDA 15611079
GO:0001938 Process Positive regulation of endothelial cell proliferation IDA 31915155
GO:0002092 Process Positive regulation of receptor internalization IDA 22732145
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 20353436
GO:0005154 Function Epidermal growth factor receptor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131530 3229 ENSG00000138798
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01133
Protein name Pro-epidermal growth factor (EGF) [Cleaved into: Epidermal growth factor (Urogastrone)]
Protein 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 engagemen
PDB 1IVO , 1JL9 , 1NQL , 1P9J , 2KV4 , 3NJP , 7OM4 , 7SYD , 7SYE , 7SZ0 , 7SZ1 , 8HGO , 8HGS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 976 → 1011 EGF-like domain Domain
PF00058 Ldl_recept_b 654 → 694 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 567 → 607 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 610 → 651 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 524 → 564 Low-density lipoprotein receptor repeat class B Repeat
PF07645 EGF_CA 870 → 910 Calcium-binding EGF domain Domain
PF07645 EGF_CA 912 → 948 Calcium-binding EGF domain Domain
PF07645 EGF_CA 356 → 395 Calcium-binding EGF domain Domain
PF14670 FXa_inhibition 745 → 780 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney, salivary gland, cerebrum and prostate. {ECO:0000269|PubMed:17671655}.
Sequence
MLLTLIILLPVVSKFSFVSLSAPQHWSCPEGTLAGNGNSTCVGPAPFLIFSHGNSIFRID
TEGTNYEQLVVDAGVSVIMDFHYNEKRIYWVDLERQLLQRVFLNGSRQERVCNIEKNVSG
MAINWINEEVIWSNQQEGIITVTDMKGNNSHILLSALKYPANVAVDPVERFIFWSSEVAG
SLYRADLDGVGVKALLETSEKITAVSLDVLDKRLFWIQYNREGSNSLICSCDYDGGSVHI
SKHPTQHNLFAMSLFGDRIFYSTWKMKTIWIANKHTGKDMVRINLHSSFVPLGELKVVHP
LAQPKAEDDTWEPEQKLCKLRKGNCSSTVCGQDLQSHLCMCAEGYALSRDRKYCEDVNEC
AFWNHGCTLGCKNTPGSYYCTCPVGFVLLPDGKRC
HQLVSCPRNVSECSHDCVLTSEGPL
CFCPEGSVLERDGKTCSGCSSPDNGGCSQLCVPLSPVSWECDCFPGYDLQLDEKSCAASG
PQPFLLFANSQDIRHMHFDGTDYGTLLSQQMGMVYALDHDPVENKIYFAHTALKWIERAN
MDGSQRERLIEEGVDVPEGLAVDW
IGRRFYWTDRGKSLIGRSDLNGKRSKIITKENISQP
RGIAVHP
MAKRLFWTDTGINPRIESSSLQGLGRLVIASSDLIWPSGITIDFLTDKLYWCD
AKQSVIEMANLDGSKRRRLTQNDVGHPFAVAVFE
DYVWFSDWAMPSVMRVNKRTGKDRVR
LQGSMLKPSSLVVVHPLAKPGADPCLYQNGGCEHICKKRLGTAWCSCREGFMKASDGKTC
LALDGHQLLAGGEVDLKNQVTPLDILSKTRVSEDNITESQHMLVAEIMVSDQDDCAPVGC
SMYARCISEGEDATCQCLKGFAGDGKLCSDIDECEMGVPVCPPASSKCINTEGGYVCRCS
EGYQGDGIHC
LDIDECQLGEHSCGENASCTNTEGGYTCMCAGRLSEPGLICPDSTPPPHL
REDDHHYSVRNSDSECPLSHDGYCLHDGVCMYIEALDKYACNCVVGYIGERCQYRDLKWW
ELRHAGHGQQQKVIVVAVCVVVLVMLLLLSLWGAHYYRTQKLLSKNPKNPYEESSRDVRS
RRPADTEDGMSSCPQPWFVVIKEHQDLKNGGQPVAGEDGQAADGSMQPTSWRQEPQLCGM
GTEQGCWIPVSSDKGSCPQVMERSFHMPSYGTQTLEGGVEKPHSLLSANPLWQQRALDPP
HQMELTQ
Sequence length 1207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
EGFR tyrosine kinase inhibitor resistance Platelet degranulation
MAPK signaling pathway Signaling by ERBB2
ErbB signaling pathway Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Ras signaling pathway Signaling by ERBB4
Rap1 signaling pathway SHC1 events in ERBB2 signaling
Calcium signaling pathway PIP3 activates AKT signaling
HIF-1 signaling pathway Signaling by EGFR
FoxO signaling pathway GRB2 events in EGFR signaling
Phospholipase D signaling pathway GAB1 signalosome
PI3K-Akt signaling pathway SHC1 events in EGFR signaling
Focal adhesion EGFR downregulation
Gap junction PI3K events in ERBB2 signaling
JAK-STAT signaling pathway EGFR interacts with phospholipase C-gamma
Regulation of actin cytoskeleton Constitutive Signaling by Aberrant PI3K in Cancer
Hepatitis C Constitutive Signaling by EGFRvIII
Human papillomavirus infection Inhibition of Signaling by Overexpressed EGFR
Pathways in cancer RAF/MAP kinase cascade
Chemical carcinogenesis - receptor activation ERBB2 Regulates Cell Motility
Chemical carcinogenesis - reactive oxygen species PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Colorectal cancer ERBB2 Activates PTK6 Signaling
Pancreatic cancer Cargo recognition for clathrin-mediated endocytosis
Endometrial cancer Clathrin-mediated endocytosis
Glioma Downregulation of ERBB2 signaling
Prostate cancer Extra-nuclear estrogen signaling
Melanoma NOTCH3 Activation and Transmission of Signal to the Nucleus
Bladder cancer Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Non-small cell lung cancer Signaling by ERBB2 KD Mutants
Breast cancer Signaling by ERBB2 ECD mutants
Gastric cancer Signaling by ERBB2 TMD/JMD mutants
Choline metabolism in cancer  
PD-L1 expression and PD-1 checkpoint pathway in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
41
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Renal hypomagnesemia 4 Pathogenic rs121434567 RCV000018089
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (40)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign; Conflicting classifications of pathogenicity ClinVar —
★★★★★
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Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE — CTD 19565504
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER — CTD, Disgenet
CTD, Disgenet
17626784
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★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD 16175315, 21942447, 23064031
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★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD 9029167
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (708)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 18199957, 21178801
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromicric Dysplasia Acromicric Dysplasia BEFREE 30887145
★★★★★
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 31075867
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28282218, 3464613
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 17685929
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 20127414
★★★★★
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Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 14597771
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★☆☆☆☆
Found in Text Mining only
Adams Oliver syndrome Adams-Oliver Syndrome BEFREE 25488668
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams-Oliver syndrome 1 Adams-Oliver Syndrome BEFREE 25488668
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11585739, 11590324, 12600830, 12749846, 1325950, 16585174, 16774944, 16956694, 17227303, 17851837, 18704599, 18799374, 21187519, 21274378, 2202801
View all (12 more)
★★★★★
★☆☆☆☆
Found in Text Mining only