CLCN3, chloride voltage-gated channel 3, 1182

N. diseases: 67; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 AlteredExpression disease BEFREE ClC-3 was highly expressed in the P-glycoprotein (P-gp)-dependent human lung adenocarcinoma cell line (A549)/paclitaxel (PTX) and the human breast carcinoma cell line (MCF-7)/doxorubicin (DOX) resistant cells. 30230544 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE A total of 14 clones could be matched to known genes and were categorized into four groups: A) transcription factors: prothymosin, CA150, p78 serine/threonine kinase, IL-1beta-stimulating gene, glucocorticoid receptor, MLN64/CAB1, gastrin-binding protein, and polypeptide from glioblastoma; B) chaperone: 90 kDa heat shock protein; C) ion channel: chloride channel protein 3; and D) cytoskeleton: cytovillin2/ezrin and vimentin. 11146166 2000
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. 12059962 2002
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Here, we define the following intracellular mechanisms regulated by 1,25D3 that are associated with recovery of phagocytosis and consistent with the selectivity of BDC: 1) 1,25D3 potentiates a 4,4-diisothiocyanostilbene-2,2-disulfonic acid-sensitive chloride channel (i.e., ClC-3) currents in both Type I and II AD macrophages, but curcumin only potentiates the currents in Type I cells; 2) 1,25D3 is particularly effective in upregulating ClC-3 mRNA expression in Type II peripheral blood mononuclear cells (PBMCs) while both 1,25D3 and the BDC analog, C180, upregulate VDR mRNA, repressed by Aβ42 in Type II PBMCs; and 3) 1,25D3-induced Aβ42 phagocytosis is attenuated by the calcium-dependent ClC-3 blocker, inositol 3,4,5,6-tetraphosphate (IP4), in both AD Types and by the MEK1/2 inhibitor U0126 only in Type II macrophages. 22207005 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE Here, we define the following intracellular mechanisms regulated by 1,25D3 that are associated with recovery of phagocytosis and consistent with the selectivity of BDC: 1) 1,25D3 potentiates a 4,4-diisothiocyanostilbene-2,2-disulfonic acid-sensitive chloride channel (i.e., ClC-3) currents in both Type I and II AD macrophages, but curcumin only potentiates the currents in Type I cells; 2) 1,25D3 is particularly effective in upregulating ClC-3 mRNA expression in Type II peripheral blood mononuclear cells (PBMCs) while both 1,25D3 and the BDC analog, C180, upregulate VDR mRNA, repressed by Aβ42 in Type II PBMCs; and 3) 1,25D3-induced Aβ42 phagocytosis is attenuated by the calcium-dependent ClC-3 blocker, inositol 3,4,5,6-tetraphosphate (IP4), in both AD Types and by the MEK1/2 inhibitor U0126 only in Type II macrophages. 22207005 2012
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.010 AlteredExpression disease BEFREE Spermatozoa from men with asthenozoospermia demonstrated lower volume regulating capacity, mobility, and ClC-3 expression levels (especially in the neck) than did normal spermatozoa. 27270342 2018
CUI: C0456909
Disease: Blindness
Blindness
0.010 Biomarker phenotype BEFREE Together with developmental retardation and higher mortality, the Clcn3-/- mice showed neurological manifestations such as blindness, motor coordination deficit, and spontaneous hyperlocomotion. 12059962 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE The aim of the present study is to explore the molecular mechanisms underlying the antitumor effect of silencing ClC-3 in breast cancer. 29963105 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE Pharmacological modulation of ClC-3 may provide a deep understanding in antiestrogen treatment of breast cancer patients. 28419445 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE To assess the roles of CLCN3 in breast cancer, we next performed three-dimensional (3D) spheroid proliferation analyses using MCF10A-ErbB2 cells treated with MCF10A-neo-derived exosomes or CLCN3 shRNA stably expressing SKBR3 and MDA-MB-453 breast cancer cells. 31608175 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 AlteredExpression disease BEFREE ClC-3 was highly expressed in the P-glycoprotein (P-gp)-dependent human lung adenocarcinoma cell line (A549)/paclitaxel (PTX) and the human breast carcinoma cell line (MCF-7)/doxorubicin (DOX) resistant cells. 30230544 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE In the present study, we showed the involvement of intracellular organelle ClC-3 Cl<sup>-</sup> /H<sup>+</sup> transporter in HER2 transcription in breast cancer MDA-MB-453 cells. 29949674 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Chloride channel 3 (CIC-3) has been suggested to be implicated in the carcinogenesis though; it still remains ill understood in hepatocarcinoma, especially in terms of clinicopathological meaning of its expression. 30678806 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE ClC-3 is a type of chloride channel that has multiple functions in tumorigenesis and tumor growth, and can be blocked by DIDS (4,4'-diisothiocyanostilbene-2,2'-disulfonic acid). 29749557 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE The ClC-3 chloride channels in cardiovascular disease. 21602838 2011
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
0.010 AlteredExpression disease BEFREE ClC-3 mRNA and protein expression in SCC tissues from cervical squamous cell carcinoma patients was significantly upregulated, and no significant difference was noted between the matched paracarcinoma fresh tissue from the same patients and non-cervical cancer patients. 30905432 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 AlteredExpression disease BEFREE In this research, we explore the ClC-3 expression in cervical carcinoma and its underlying clinical significance, trying to illuminate ClC-3 probable function in the neoplasm malignant behavior, development and prognosis. 30636929 2019
Child Development Disorders, Pervasive
0.100 GeneticVariation group GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 AlteredExpression disease BEFREE A total of 14 clones could be matched to known genes and were categorized into four groups: A) transcription factors: prothymosin, CA150, p78 serine/threonine kinase, IL-1beta-stimulating gene, glucocorticoid receptor, MLN64/CAB1, gastrin-binding protein, and polypeptide from glioblastoma; B) chaperone: 90 kDa heat shock protein; C) ion channel: chloride channel protein 3; and D) cytoskeleton: cytovillin2/ezrin and vimentin. 11146166 2000
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.010 AlteredExpression disease BEFREE RESULTS Results showed that the expression of ClC-3 chloride channel in the normal chondrocyte was thinner, since it showed distinct differentiation among chondrosarcoma specimens. 31281178 2019
CUI: C0008489
Disease: Chorea
Chorea
0.010 GeneticVariation phenotype BEFREE Considering that chorea in this patient might be due to the disruption of a gene at either of the 4p15.32 or 4q33 breakpoints, CLCN3 was considered as a candidate gene. 9521585 1998
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.010 Biomarker group BEFREE TGF-beta/TGF-beta RII/CLC-3 axis promotes cognitive disorders in diabetes. 30468668 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 Biomarker disease BEFREE This review will highlight the major findings and recent advances in the study of ClC-3 Cl(-) channels in the cardiovascular system and discuss their important roles in cardiac and vascular remodeling during hypertension, myocardial hypertrophy, ischemia/reperfusion, and heart failure. 21602838 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 Biomarker phenotype BEFREE Together with developmental retardation and higher mortality, the Clcn3-/- mice showed neurological manifestations such as blindness, motor coordination deficit, and spontaneous hyperlocomotion. 12059962 2002