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  Domain Name: C2
Protein kinase C conserved region 2 (CalB). Ca2+-binding motif present in phospholipases, protein kinases C, and synaptotagmins (among others). Some do not appear to contain Ca2+-binding sites. Particular C2s appear to bind phospholipids, inositol polyphosphates, and intracellular proteins. Unusual occurrence in perforin. Synaptotagmin and PLC C2s are permuted in sequence with respect to N- and C-terminal beta strands. SMART detects C2 domains using one or both of two profiles.
No pairwise interactions found for the domain C2

Total Mutations Found: 170
Total Disease Mutations Found: 74
This domain occurred 127 times on human genes (263 proteins).



  COACH SYNDROME
  CONE-ROD DYSTROPHY 7
  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
  LIMB-GIRDLE MUSCULAR DYSTROPHY 2B (LGMD2B)
  MECKEL SYNDROME, TYPE 5
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
  MIYOSHI MUSCULAR DYSTROPHY 1 (MMD1)
  MIYOSHI MYOPATHY
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN
  MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;
  PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for C2