ENSG00000138798


Homo sapiens

Features
Gene ID: ENSG00000138798
  
Biological name :EGF
  
Synonyms : EGF / epidermal growth factor / P01133
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q25
Gene start: 109912884
Gene end: 110012266
  
Corresponding Affymetrix probe sets: 206254_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265171
Ensembl peptide - ENSP00000421384
Ensembl peptide - ENSP00000424316
NCBI entrez gene - 1950     See in Manteia.
OMIM - 131530
RefSeq - XM_017007853
RefSeq - NM_001178130
RefSeq - NM_001178131
RefSeq - NM_001963
RefSeq - XM_017007849
RefSeq - XM_017007850
RefSeq - XM_017007851
RefSeq - XM_017007852
RefSeq - XM_005262796
RefSeq - XM_011531707
RefSeq - XM_017007845
RefSeq - XM_017007846
RefSeq - XM_017007847
RefSeq - XM_017007848
RefSeq Peptide - NP_001171602
RefSeq Peptide - NP_001954
RefSeq Peptide - NP_001171601
swissprot - P01133
Ensembl - ENSG00000138798
  
Related genetic diseases (OMIM): 611718 - Hypomagnesemia 4, renal, 611718
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 egfENSDARG00000052739Danio rerio
 EGFENSGALG00000012155Gallus gallus
 EgfENSMUSG00000028017Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NID2 / Q14112 / nidogen 2ENSG0000008730316
NID1 / P14543 / nidogen 1ENSG0000011696215
LRP5L / A4QPB2 / LDL receptor related protein 5 likeENSG000001000687


Protein motifs (from Interpro)
Interpro ID Name
 IPR000033  LDLR class B repeat
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR013032  EGF-like, conserved site
 IPR016317  Pro-epidermal growth factor
 IPR018097  EGF-like calcium-binding, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0000186 activation of MAPKK activity IEA
 biological_processGO:0000187 activation of MAPK activity IEA
 biological_processGO:0001525 angiogenesis IDA
 biological_processGO:0002092 positive regulation of receptor internalization IDA
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007171 activation of transmembrane receptor protein tyrosine kinase activity IEA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation IDA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0021940 positive regulation of cerebellar granule cell precursor proliferation IEA
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0042327 positive regulation of phosphorylation IDA
 biological_processGO:0043388 positive regulation of DNA binding ISS
 biological_processGO:0043406 positive regulation of MAP kinase activity IDA
 biological_processGO:0044332 Wnt signaling pathway involved in dorsal/ventral axis specification IBA
 biological_processGO:0045741 positive regulation of epidermal growth factor-activated receptor activity IMP
 biological_processGO:0045746 negative regulation of Notch signaling pathway TAS
 biological_processGO:0045840 positive regulation of mitotic nuclear division IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048754 branching morphogenesis of an epithelial tube IEA
 biological_processGO:0050730 regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0051048 negative regulation of secretion IDA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0060059 embryonic retina morphogenesis in camera-type eye IBA
 biological_processGO:0060070 canonical Wnt signaling pathway IBA
 biological_processGO:0060749 mammary gland alveolus development IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity IEA
 biological_processGO:0070371 ERK1 and ERK2 cascade IDA
 biological_processGO:0090279 regulation of calcium ion import IDA
 biological_processGO:0090370 negative regulation of cholesterol efflux IEA
 biological_processGO:1900127 positive regulation of hyaluronan biosynthetic process IDA
 biological_processGO:1901185 negative regulation of ERBB signaling pathway TAS
 biological_processGO:2000008 regulation of protein localization to cell surface IDA
 biological_processGO:2000060 positive regulation of ubiquitin-dependent protein catabolic process IEA
 biological_processGO:2000145 regulation of cell motility TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0043235 receptor complex IBA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005154 epidermal growth factor receptor binding TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IDA
 molecular_functionGO:0017147 Wnt-protein binding IBA
 molecular_functionGO:0030297 transmembrane receptor protein tyrosine kinase activator activity TAS
 molecular_functionGO:0042813 Wnt-activated receptor activity IBA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
Platelet degranulation
Signaling by ERBB2
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PLCG1 events in ERBB2 signaling
PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
GAB1 signalosome
SHC1 events in EGFR signaling
EGFR downregulation
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
EGFR interacts with phospholipase C-gamma
Constitutive Signaling by Aberrant PI3K in Cancer
Constitutive Signaling by EGFRvIII
Inhibition of Signaling by Overexpressed EGFR
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Downregulation of ERBB2 signaling
NOTCH3 Activation and Transmission of Signal to the Nucleus


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000729 Pervasive developmental disorder 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0002119 Ventriculomegaly 
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0002342 Mental retardation, moderate "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators]
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 HP:0002465 Poor speech 
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 HP:0002917 Hypomagnesemia 
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0006801 Hyperactive deep tendon reflexes 
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 HP:0011343 Moderate global developmental delay "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
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 HP:0012447 Abnormal myelination "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [HPO:probinson, MP:0000920]
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 HP:0012608 Hypermagnesiuria "An increased concentration of magnesium the `urine` (FMA:12274)." [Eurenomics:fschaefer]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072135 PTPN18 / Q99952 / protein tyrosine phosphatase, non-receptor type 18  / complex / reaction
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / complex / reaction
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction / complex
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / complex / reaction
 ENSG00000124882 EREG / O14944 / epiregulin  / reaction / complex
 ENSG00000127947 PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12  / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction / complex
 ENSG00000074181 NOTCH3 / Q9UM47  / reaction / complex
 ENSG00000137845 ADAM10 / O14672 / ADAM metallopeptidase domain 10  / reaction
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000147010 Q96B97 / SH3KBP1 / SH3 domain containing kinase binding protein 1  / reaction
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / complex / reaction
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / reaction / complex
 ENSG00000085832 EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15  / complex / reaction
 ENSG00000169891 REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2  / complex
 ENSG00000007264 MATK / P42679 / megakaryocyte-associated tyrosine kinase  / complex / reaction
 ENSG00000136158 SPRY2 / O43597 / sprouty RTK signaling antagonist 2  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000102606 Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7  / complex
 ENSG00000162959 MEMO1 / Q9Y316 / mediator of cell motility 1  / complex / reaction
 ENSG00000063245 EPN1 / Q9Y6I3 / epsin 1  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / reaction / complex
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex
 ENSG00000164056 SPRY1 / O43609 / sprouty RTK signaling antagonist 1  / complex / reaction
 ENSG00000072134 EPN2 / O95208 / epsin 2  / complex / reaction
 ENSG00000131504 DIAPH1 / O60610 / diaphanous related formin 1  / complex / reaction
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / reaction
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / complex / reaction
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000112851 ERBIN / Q96RT1 / erbb2 interacting protein  / reaction
 ENSG00000157168 NRG1 / Q02297 / neuregulin 1  / complex / reaction
 ENSG00000151694 ADAM17 / P78536 / ADAM metallopeptidase domain 17  / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction
 ENSG00000148848 ADAM12 / O43184 / ADAM metallopeptidase domain 12  / reaction
 ENSG00000174808 BTC / P35070 / betacellulin  / reaction / complex
 ENSG00000169752 NRG4 / Q8WWG1 / neuregulin 4  / complex / reaction






 

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