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  Domain Name: EGF_CA
Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the N-terminus of particular EGF-like domains; calcium-binding may be crucial for numerous protein-protein interactions. Six conserved core cysteines form three disulfide bridges as in non calcium-binding EGF domains, whose structures are very similar. EGF_CA can be found in tandem repeat arrangements.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 180
Total Disease Mutations Found: 82
This domain occurred 118 times on human genes (226 proteins).



  ALAGILLE SYNDROME 2
  AND LEUKOENCEPHALOPATHY
  CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT (CADASIL)
  CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
  CONTRACTURAL ARACHNODACTYLY, CONGENITAL
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
  DONNAI-BARROW SYNDROME
  DOYNE HONEYCOMB RETINAL DYSTROPHY, INCLUDED
  ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
  FH PORI
  HYPERCHOLESTEROLEMIA, FAMILIAL
  LEBER CONGENITAL AMAUROSIS 8 (LCA8)
  MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
  MACULAR DEGENERATION, AGE-RELATED, 3
  MALATTIA LEVENTINESE
  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
  THYROID DYSHORMONOGENESIS 2A
  VARIANT OF UNKNOWN SIGNIFICANCE
  WEILL-MARCHESANI SYNDROME 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
Ca2+ binding site










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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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