[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Placenta;
DOI=10.1093/hmg/4.3.407; PubMed=7795595 [NCBI, ExPASy, EBI, Israel, Japan]
Cid L.P.,
Montrose-Rafizadeh C.,
Smith D.I.,
Guggino W.B.,
Cutting G.R.;
"Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in human tissues.";
Hum. Mol. Genet. 4:407-413(1995).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT THR-668.
TISSUE=Lens epithelium;
Rae J.L.,
Shepard A.R.;
Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT THR-668.
TISSUE=Lung, and Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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TISSUE SPECIFICITY.
TISSUE=Aortic endothelium, and Vascular smooth muscle;
DOI=10.1006/jmcc.1998.0901; PubMed=10198195 [NCBI, ExPASy, EBI, Israel, Japan]
Lamb F.S.,
Clayton G.H.,
Liu B.-X.,
Smith R.L.,
Barna T.J.,
Schutte B.C.;
"Expression of CLCN voltage-gated chloride channel genes in human blood vessels.";
J. Mol. Cell. Cardiol. 31:657-666(1999).
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[5]
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FUNCTION.
DOI=10.1113/jphysiol.2008.167353; PubMed=19153159 [NCBI, ExPASy, EBI, Israel, Japan]
Niemeyer M.I.,
Cid L.P.,
Yusef Y.R.,
Briones R.,
Sepulveda F.V.;
"Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons.";
J. Physiol. (Lond.) 587:1387-1400(2009).
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[6]
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VARIANT JAE GLU-715.
DOI=10.1038/ng1121; PubMed=12612585 [NCBI, ExPASy, EBI, Israel, Japan]
Haug K.,
Warnstedt M.,
Alekov A.K.,
Sander T.,
Ramirez A.,
Poser B.,
Maljevic S.,
Hebeisen S.,
Kubisch C.,
Rebstock J.,
Horvath S.,
Hallmann K.,
Dullinger J.S.,
Rau B.,
Haverkamp F.,
Beyenburg S.,
Schulz H.,
Janz D.,
Giese B., ![]()
Mueller-Newen G.,
Propping P.,
Elger C.E.,
Fahlke C.,
Lerche H.,
Heils A.;
"Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.";
Nat. Genet. 33:527-532(2003).
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[7]
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VARIANTS ARG-48; HIS-68; ALA-199; GLN-646; THR-668; TRP-725 AND HIS-747, AND CHARACTERIZATION OF VARIANTS ARG-48; HIS-68; ALA-199; GLN-646; TRP-725 AND HIS-747.
DOI=10.1159/000107528; PubMed=17762171 [NCBI, ExPASy, EBI, Israel, Japan]
Paul J.,
Jeyaraj S.,
Huber S.M.,
Seebohm G.,
Boehmer C.,
Lang F.,
Kremsner P.G.,
Kun J.F.J.;
"Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.";
Cell. Physiol. Biochem. 20:441-454(2007).
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[8]
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VARIANTS GLN-235; GLN-577 AND CYS-644, CHARACTERIZATION OF VARIANTS GLN-235; GLN-577 AND CYS-644, AND FUNCTION.
DOI=10.1002/humu.20876; PubMed=19191339 [NCBI, ExPASy, EBI, Israel, Japan]
Saint-Martin C.,
Gauvain G.,
Teodorescu G.,
Gourfinkel-An I.,
Fedirko E.,
Weber Y.G.,
Maljevic S.,
Ernst J.-P.,
Garcia-Olivares J.,
Fahlke C.,
Nabbout R.,
LeGuern E.,
Lerche H.,
Christophe Poncer J.,
Depienne C.;
"Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.";
Hum. Mutat. 30:397-405(2009).
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- FUNCTION: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.
- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
- ALTERNATIVE PRODUCTS:
3 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Isoform ID | P51788-2 |
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
| Features which should be applied to build the isoform sequence: VSP_007831, VSP_007832, VSP_036455. |
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| Name | 3 |
| Isoform ID | P51788-3 |
| Features which should be applied to build the isoform sequence: VSP_036456. |
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- TISSUE SPECIFICITY: Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells.
- DISEASE: Defects in CLCN2 may be the cause of epilepsy with grand mal seizures on awakening (EGMA) [MIM:607628]. EGMA is a subtype of idiopathic generalized epilepsy (IGE) characterized by generalized tonic-clonic seizures (GTCS) occurring predominantly on awakening. The GTCS can be the only symptom or they can be combined with the other subsyndromes of IGE in childhood or adolescence.
- DISEASE: Defects in CLCN2 are the cause of childhood absence epilepsy type 3 (ECA3) [MIM:607682]. ECA3 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3 Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop.
- DISEASE: Defects in CLCN2 are a cause of juvenile absence epilepsy (JAE) [MIM:607631]. JAE is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening and myoclonic seizures.
- MISCELLANEOUS: The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (By similarity).
- SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family [view classification].
- SIMILARITY: Contains 2 CBS domains.
- SEQUENCE CAUTION:
- Sequence=AAH21578.1; Type=Erroneous translation; Note=Wrong choice of frame
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=CLCN2";.
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