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Open Access Articles- Top Results for CLCN2

CLCN2

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Identifiers
SymbolsCLCN2 ; CIC-2; CLC2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8; LKPAT; clC-2
External IDsOMIM600570 MGI105061 HomoloGene3213 IUPHAR: 699 ChEMBL: 1628478 GeneCards: CLCN2 Gene
RNA expression pattern
File:PBB GE CLCN2 213499 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez118112724
EnsemblENSG00000114859ENSMUSG00000022843
UniProtP51788Q9R0A1
RefSeq (mRNA)NM_001171087NM_009900
RefSeq (protein)NP_001164558NP_034030
Location (UCSC)Chr 3:
184.06 – 184.08 Mb
Chr 16:
20.7 – 20.72 Mb
PubMed search[1][2]

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[1][2] Mutations of this gene have been found to cause leukoencephalopathy (PMID: 23707145) and Idiopathic generalised epilepsy (OMIM: 600699).[3][4] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.


See also

References

  1. ^ Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (Aug 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Hum Mol Genet 4 (3): 407–413. PMID 7795595. doi:10.1093/hmg/4.3.407. 
  2. ^ "Entrez Gene: CLCN2 chloride channel 2". 
  3. ^ Haug K; Warnstedt M; Alekov AK et al. (2003). "Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies". Nat. Genet. 33 (4): 527–532. PMID 12612585. doi:10.1038/ng1121.  (Retracted)
  4. ^ Combi R; Grioni D; Contri M et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Res. Bull. 79 (2): 89–96. PMID 19200853. doi:10.1016/j.brainresbull.2009.01.008. 

Further reading

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External links

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