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: C0001075
Disease: Achlorhydria
Achlorhydria 		0.010 Biomarker phenotype LHGDN Expression of anion exchanger 2 in human gastric cancer. 18438347 2008
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: C0002063
Disease: Alkalosis
Alkalosis 		0.200 Biomarker phenotype RGD Vacuolar H+-ATPase expression is increased in acid-secreting intercalated cells in kidneys of rats with hypercalcaemia-induced alkalosis. 17367404 2007
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.500 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.500 Biomarker disease RGD Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
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: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		0.300 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
CUI: C4551595
Disease: Biliary Cirrhosis, Primary, 1
Biliary Cirrhosis, Primary, 1 		0.300 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
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
CUI: C3666017
Disease: Cholangiopathy
Cholangiopathy 		0.010 AlteredExpression disease BEFREE Primary biliary cholangitis (PBC) is a chronic fibrosing cholangiopathy characterized by an autoimmune stereotype and defective biliary bicarbonate secretion due to down-regulation of anion exchanger 2 (AE2). 28962898 2018
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: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257797
Disease: Choledochal Cyst, Type III
Choledochal Cyst, Type III 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257798
Disease: Choledochal Cyst, Type IV
Choledochal Cyst, Type IV 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257799
Disease: Choledochal Cyst, Type V
Choledochal Cyst, Type V 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
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: 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: 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
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: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.010 GeneticVariation disease BEFREE Interestingly, heterozygous and homozygous SLC4A2 missense variants were detected in patients with low phospholipid-associated cholelithiasis. 31538484 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 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