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 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: 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: 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 CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
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: 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: C0238065
Disease: Secondary Biliary Cholangitis
Secondary Biliary Cholangitis 		0.300 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 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: 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: C0001075
Disease: Achlorhydria
Achlorhydria 		0.010 Biomarker phenotype LHGDN Expression of anion exchanger 2 in human gastric cancer. 18438347 2008
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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 Biomarker group LHGDN We have studied AE2 expression in normal human gastric tissues (n =16) and in gastric tumors (n = 33) using immunohistochemistry and immunofluorescent labeling. 18438347 2008
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: 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: 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: 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 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: 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