SLC4A2, solute carrier family 4 member 2, 6522

N. diseases: 35; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 AlteredExpression disease BEFREE The decreased expression of AE2 was correlated with dysregulated autophagy, abnormal expression of PDC-E2, and cellular senescence in bile duct lesions in PBC. 29540861 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 GeneticVariation disease BEFREE Of note, two SLC4A2 variants appear to influence AMA status among PBC patients. 19491853 2009
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 Biomarker disease BEFREE They also demonstrate that allelic variations in TNFalpha and SLC4A2/AE2 have a significant impact on the evolutive profile of PBC under UDCA therapy. 18930330 2008
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 Biomarker disease BEFREE In this review, we discuss the experimental evidence for the emerging role of the miR-506-AE2-sAC axis in PBC pathogenesis. 28962898 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 GeneticVariation disease BEFREE CTLA4 and SLC4A2 genetic polymorphisms are differentially associated with PBC development and progression, as well as anti-gp210 or anti-centromere antibody production, in Japanese PBC patients. 21594562 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 AlteredExpression disease BEFREE Immunohistochemical studies indicated that the expression of the AE2 protein is decreased in the bile ducts and hepatocytes in PBC livers. 21691115 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 AlteredExpression disease BEFREE In addition, we observed that though cAMP increased AE2 activity in cholangiocytes from both normal and non-PBC livers, this effect was absent in PBC cholangiocytes. 12029638 2002
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 AlteredExpression disease BEFREE Here, we tested the potential role of microRNA 506 (miR-506) - predicted as candidate to target AE2 mRNA - for the decreased expression of AE2 in PBC. 22383162 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.390 Biomarker disease BEFREE To directly address the role of AE2 in preventing PBC pathogenesis, we took advantage of our ability to isolate human BEC and autologous splenic mononuclear cells (SMC). 27592379 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Targeting the anion exchanger 2 with specific peptides as a new therapeutic approach in B lymphoid neoplasms. 29191842 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE Immunohistochemical staining showed that AE2 was primarily located in the cell membranes or cytoplasm of carcinoma cells, and its expression pattern at the invasive front of the tumor was related to the pT category. 29899837 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Drug Repurposing as an Antitumor Agent: Disulfiram-Mediated Carbonic Anhydrase 12 and Anion Exchanger 2 Modulation to Inhibit Cancer Cell Migration. 31546841 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 AlteredExpression disease BEFREE Gastrin inhibited proliferation of colon cancer cells by suppressing expression of EGR1 and AE2 and by blocking ERK phosphorylation. 22228178 2012
CUI: C0008311
Disease: Cholangitis
Cholangitis
0.010 AlteredExpression disease BEFREE The expression of AE2 was significantly decreased in cholangitis in PBC, compared to control livers (p < 0.05). 29540861 2018
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.010 AlteredExpression disease BEFREE In this work, we ascertained whether AE2 expression and/or activity is reduced in hepatocytes from rats with common bile duct ligation (BDL), as part of the adaptive response to cholestasis. 30789925 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 Biomarker group BEFREE The progression rate of liver disease under ursodeoxycholic acid (UDCA) therapy was significantly linked to SNPs of TNFalpha and SLC4A2/anion exchanger 2 (AE2) genes. 18930330 2008
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.010 GeneticVariation disease BEFREE These results indicate that a deletion mutation within bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. 20507629 2010
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 Biomarker group BEFREE Finally, a macrocyclic AE2 targeting peptide exhibiting increased stability <i>in vivo</i> was effective in mice xenografted with B-cell lymphoma. 29191842 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE The aims of the present study were to investigate the role of anion exchanger 2 (AE2) in the regulation of tumor progression-related genes and the prognostic value of its expression in esophageal squamous cell carcinoma (ESCC). 29899837 2018
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular
0.010 AlteredExpression disease BEFREE Survival analysis of 24 patients with colon cancer in early stage or 33 patients with tubular adenocarcinoma demonstrated that expression of AE2 is correlated with poor prognosis. 22228178 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 Biomarker disease BEFREE We found that bile acid uptake and toxicity in human immortalized cholangiocytes and cholangiocarcinoma cell lines in vitro were pH and AE2 dependent, with the highest rates at low pH and when AE2 expression was defective. 21932391 2012
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE The results of the present study suggest that reductions in AE2 in ESCC enhance cellular movement by activating MMP signaling pathways and are related to a poor prognosis in patients with ESCC. 29899837 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 AlteredExpression disease BEFREE Gastrin inhibited proliferation of colon cancer cells by suppressing expression of EGR1 and AE2 and by blocking ERK phosphorylation. 22228178 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Drug Repurposing as an Antitumor Agent: Disulfiram-Mediated Carbonic Anhydrase 12 and Anion Exchanger 2 Modulation to Inhibit Cancer Cell Migration. 31546841 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE Our previous findings showed that AE2 gene was highly expressed in a poorly differentiated HCC cell line, HA22T/VGH. 19224338 2009