Recombinant Human Chloride channel protein 2 (CLCN2), partial

1. The inhibitory effects of ClC-2 knockout on HBVSMC proliferation and motility were associated with inactivation of the Wnt/beta-catenin signaling pathway, as evidenced by inhibition of beta-catenin phosphorylation and nuclear translocation, and decrease of GSK-3beta phosphorylation and survivin and cyclin D1 expression. PMID: 29988306
2. Leukoencephalopathy-causing CLCN2 mutations impair chloride channel gating and trafficking. PMID: 28905383
3. ClC-2 mRNA level was significantly increased in patients with non-alcoholic steatohepatitis, which positively correlated with the plasma levels of alanine transaminase (ALT), aspartate transaminase (AST) and insulin. PMID: 29550812
4. The findings show that RGET691 of human ClC-2 (possible binding site) plays an important functional role in fatty acid activation of human ClC-2. PMID: 28424169
5. Hyperpolarization activates CLC-2 mainly by driving intracellular anions into the channel pores. PMID: 26666914
6. The extracellular domain of GlialCAM is necessary for cell junction targeting and for mediating interactions with itself or with MLC1 and ClC-2. PMID: 26033718
7. both ubiquitous (AP-1A) and epithelium-specific (AP-1B) forms of the tetrameric clathrin adaptor AP-1 are capable of carrying out basolateral sorting of ClC-2. PMID: 25739457
8. SPAK and OSR1 are powerful negative regulators of the cell volume regulatory Cl- channel ClC-2 PMID: 25323061
9. Correlation between CLC-2 gene expression and the cytoskeleton in human trabecular meshwork cells. PMID: 23934342
10. Our observations substantiate the concept that ClC-2 is involved in brain ion and water homoeostasis PMID: 23707145
11. JAK2 down-regulates ClC-2 activity and thus counteracts Cl(-) exit, an effect which may impact on cell volume regulation PMID: 22613974
12. This study demonistrated that the first auxiliary subunit of ClC-2 and suggests that ClC-2 may play a role in the pathology of MLC disease. PMID: 22405205
13. ClC-2 plays an important role in the modulation of tight junctions by influencing caveolar trafficking of tight junction protein occludin. PMID: 21956164
14. Sequence analysis of CLCN2 at genomic DNA and cDNA levels in 18 megalencephalic leukoencephalopathy MLC1 mutations revealed some nucleotide changes, but they were predicted to be nonpathogenic. PMID: 20187760
15. found significant expression of ClC-2 at the apex of ciliated cells in both rat and human airways PMID: 11880269
16. a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex. PMID: 12601004
17. ClC-2 and ClC-3 channels are specifically upregulated in glioma membranes and endow glioma cells with an enhanced ability to transport Chloride PMID: 12843258
18. activation of hClC-2 is differentially regulated by PKA at two sites PMID: 15010473
19. Functional evaluation of mutated channels associated with idiopathic generalized epilepsies PMID: 15252188
20. activation of host ClC-2 channels participates in the altered permeability of Plasmodium-infected erythrocytes but is not required for intraerythrocytic parasite survival PMID: 15272009
21. These results indicate that ClC-2 may not be a Cl- -transporting protein for gastric acid secretion in parietal cells. PMID: 15388342
22. These data suggest that interferon-gamma activates ClC-2 channel activity in lung epithelial cells via mRNA stabilization. PMID: 15464978
23. The authors conclude that CLCN2 mutations may be a rare cause of familial epilepsy. Further studies are needed to test if polymorphisms in this gene are associated with epilepsy. PMID: 15505175
24. CLC-2 is not a key modifier gene of Cystic fibrosis lung disease phenotype. PMID: 15507145
25. CLCN2 is related to idiopathic generalized epilepsy. PMID: 15508929
26. association of Hsp90 with ClC-2 results in greater channel activity due to increased cell surface channel expression, facilitation of channel opening, and enhanced channel sensitivity to intracellular [Cl-] PMID: 16049054
27. This suggests that slow and fast gating in ClC-2 are coupled, perhaps with slow gating contributing to the operation of the pore E207 as a protopore gate. PMID: 16469788
28. mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy PMID: 16932951
29. CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy PMID: 17580110
30. Africans' gene pool comprises CLCN2 gene variants in the N-terminus, the C-terminus or the pore domain that affect surface expression and voltage- or cell-swelling-stimulated channel gating PMID: 17762171
31. CLC-2 is upregulated in ethmoid mucosa and may affect the development of chronic rhinosinusitis without nasal polyps. PMID: 17882904
32. propose that the function of the ClC-2 carboxy-terminus is to slow down the time course of channel activation in order to stabilize neuronal excitability PMID: 18801843
33. Finding predicts a loss of function that may contribute to intracellular chloride accumulation or neuronal hyperexcitability. PMID: 19191339
34. PIKfyve is a potent stimulator of ClC-2-activity and contributes to SGK1-dependent regulation of ClC-2. PMID: 19232516
35. GaTx2 specifically inhibits ClC-2 channels, showing no inhibitory effect on a battery of other major classes of chloride channels and voltage-gated potassium channels. GaTx2 is the first peptide toxin inhibitor of any ClC protein. PMID: 19574231
36. CLCN2 variants in indiopathic generalized epilepsy are reported. PMID: 19710712
37. ClC-2 requires residing in beta-cyclodextrin sensitive plasma membrane clusters with other molecules in order to remain active. Regulation of ClC-2 trafficking to (endocytic pathway) and within the membrane could be a means of modulating its activity. PMID: 19711355
38. two novel CLCN2 missense mutations, p.Arg235Gln and p.Arg577Gln, accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. PMID: 19191339

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HGNC: 2020

OMIM: 600570

KEGG: hsa:1181

STRING: 9606.ENSP00000265593

UniGene: Hs.436847