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  Domain Name: C2C_KIAA1228
C2 domain third repeat present in uncharacterized human KIAA1228-like proteins. KIAA proteins are uncharacterized human proteins. They were compiled by the Kazusa mammalian cDNA project which identified more than 2000 human genes. They are identified by 4 digit codes that precede the KIAA designation. Many KIAA genes are still functionally uncharacterized including KIAA1228. 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. This cd contains the third C2 repeat, C2C, and has a type-II topology.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 94
Total Disease Mutations Found: 46
This domain occurred 57 times on human genes (115 proteins).



  CONE-ROD DYSTROPHY 7
  LIMB-GIRDLE MUSCULAR DYSTROPHY 2B (LGMD2B)
  MIYOSHI MUSCULAR DYSTROPHY 1 (MMD1)
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11


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   Protein ID            Protein Position

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No Conserved Features/Sites Found for C2C_KIAA1228








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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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