CLCN2

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CLCN2
Identifiers
AliasesCLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2
External IDsMGI: 105061 HomoloGene: 3213 GeneCards: CLCN2
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for CLCN2
Genomic location for CLCN2
Band3q27.1Start184,346,185 bp[1]
End184,361,651 bp[1]
RNA expression pattern
PBB GE CLCN2 213499 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001171087
NM_001171088
NM_001171089
NM_004366

NM_009900

RefSeq (protein)

NP_001164558
NP_001164559
NP_001164560
NP_004357

NP_034030

Location (UCSC)Chr 3: 184.35 – 184.36 MbChr 16: 20.7 – 20.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[5][6] Mutations of this gene have been found to cause leukoencephalopathy (PMID 23707145) and Idiopathic generalised epilepsy (OMIM: 600699).[7][8] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.


See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000114859 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022843 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. doi:10.1093/hmg/4.3.407. PMID 7795595. 
  6. ^ "Entrez Gene: CLCN2 chloride channel 2". 
  7. ^ 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. doi:10.1038/ng1121. PMID 12612585.  (Retracted)
  8. ^ 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. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.