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  Domain Name: C2
C2 domain. The C2 domain was first identified in PKC. C2 domains fold into an 8-standed beta-sandwich that can adopt 2 structural arrangements: Type I and Type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins. Most C2 domain proteins are either signal transduction enzymes that contain a single C2 domain, such as protein kinase C, or membrane trafficking proteins which contain at least two C2 domains, such as synaptotagmin 1. However, there are a few exceptions to this including RIM isoforms and some splice variants of piccolo/aczonin and intersectin which only have a single C2 domain. C2 domains with a calcium binding region have negatively charged residues, primarily aspartates, that serve as ligands for calcium ions.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 169
Total Disease Mutations Found: 77
This domain occurred 112 times on human genes (206 proteins).



  COACH SYNDROME
  CONE-ROD DYSTROPHY 13
  CONE-ROD DYSTROPHY 7
  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
  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