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: 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 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 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 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: 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 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 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 CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
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: 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: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		0.200 Biomarker disease RGD Effect of prediabetes on membrane bicarbonate transporters in testis and epididymis. 24105628 2013
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