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  Domain Name: Voltage_gated_ClC
CLC voltage-gated chloride channel. The ClC chloride channels catalyse the selective flow of Cl- ions across cell membranes, thereby regulating electrical excitation in skeletal muscle and the flow of salt and water across epithelial barriers. This domain is found in the halogen ions (Cl-, Br- and I-) transport proteins of the ClC family. The ClC channels are found in all three kingdoms of life and perform a variety of functions including cellular excitability regulation, cell volume regulation, membrane potential stabilization, acidification of intracellular organelles, signal transduction, transepithelial transport in animals, and the extreme acid resistance response in eubacteria. They lack any structural or sequence similarity to other known ion channels and exhibit unique properties of ion permeation and gating. Unlike cation-selective ion channels, which form oligomers containing a single pore along the axis of symmetry, the ClC channels form two-pore homodimers with one pore per subunit without axial symmetry. Although lacking the typical voltage-sensor found in cation channels, all studied ClC channels are gated (opened and closed) by transmembrane voltage. The gating is conferred by the permeating ion itself, acting as the gating charge. In addition, eukaryotic and some prokaryotic ClC channels have two additional C-terminal CBS (cystathionine beta synthase) domains of putative regulatory function.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 71
Total Disease Mutations Found: 36
This domain occurred 9 times on human genes (22 proteins).



  BARTTER SYNDROME, TYPE 3
  BARTTER SYNDROME, TYPE 4B
  DENT DISEASE 1
  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
  HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
  INCLUDED
  MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
  MYOTONIA CONGENITA, AUTOSOMAL DOMINANT, INCLUDED
  MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
  MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE, INCLUDED
  MYOTONIA LEVIOR
  NEPHROLITHIASIS, X-LINKED RECESSIVE
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
  PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
  PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS,


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
Cl- selectivity filter
pore gating glutamate res
Cl- binding residues
dimer interface























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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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