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  Domain Name: EGF
Epidermal growth factor domain, found in epidermal growth factor (EGF) presents in a large number of proteins, mostly animal; the list of proteins currently known to contain one or more copies of an EGF-like pattern is large and varied; the functional significance of EGF-like domains in what appear to be unrelated proteins is not yet clear; a common feature is that these repeats are found in the extracellular domain of membrane-bound proteins or in proteins known to be secreted (exception: prostaglandin G/H synthase); the domain includes six cysteine residues which have been shown to be involved in disulfide bonds; the main structure is a two-stranded beta-sheet followed by a loop to a C-terminal short two-stranded sheet; Subdomains between the conserved cysteines vary in length; the region between the 5th and 6th cysteine contains two conserved glycines of which at least one is present in most EGF-like domains; a subset of these bind calcium.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 167
Total Disease Mutations Found: 74
This domain occurred 131 times on human genes (257 proteins).



  ALAGILLE SYNDROME 2
  AND LEUKOENCEPHALOPATHY
  AORTIC VALVE DISEASE 1
  CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT (CADASIL)
  CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
  CONTRACTURAL ARACHNODACTYLY, CONGENITAL
  CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
  DONNAI-BARROW SYNDROME
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  FH PORI
  HYPERCHOLESTEROLEMIA, FAMILIAL
  LEBER CONGENITAL AMAUROSIS 8 (LCA8)
  MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
  MARFAN SYNDROME
  MARFAN SYNDROME, AUTOSOMAL RECESSIVE
  MARFAN SYNDROME, CLASSIC
  MARFAN SYNDROME, MILD
  MARFAN SYNDROME, MILD VARIABLE
  MARFAN SYNDROME, NEONATAL
  MARFAN SYNDROME, SEVERE CLASSIC
  MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
  OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
  PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  RETINITIS PIGMENTOSA 12
  RETINITIS PIGMENTOSA 12 (RP12)
  SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for EGF







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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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