Recombinant Human Chloride anion exchanger (SLC26A3), partial

1. TNFalpha may act reciprocally with DRA, leading to the development of intestinal inflammation. PMID: 29286110
2. Results indicate the involvement of SLC26A3 along with SLC26A6 in transporting HCO3(-) essential for embryo cleavage, possibly working in concert with CFTR through a Cl(-) recycling pathway. PMID: 27346053
3. This study confirms the molecular heterogeneity of sporadic congenital chloride diarrhea, adding 12 novel SLC26A3 mutations to the list of known pathogenic mutations. PMID: 28644346
4. Molecular analysis of human solute carrier SLC26A2, SLC26A3, and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented. PMID: 28941661
5. In intestinal cells, TNF activates NF-kappaB, which reduces expression of the Cl(-) / HCO3(-) exchanger SLC26A3, via direct binding to the promoter region. PMID: 28823863
6. Genetic variations of the SLC26A3 rs2108225 is associated with enhance the risk of ulcerative colitis. PMID: 28397232
7. We report the first Tunisian case of SLC26A3 gene mutation in congenital chloride diarrhea. Our patient was homozygous for G187X mutation. Both parents were heterozygous for the same mutation. PMID: 27525615
8. Expression of NHE3 and DRA was reduced with high tacrolimus levels and impaired renal function after intestinal transplantation. PMID: 27109987
9. A variety of mutations in SLC26A3 are responsible for CCD. A total of 55 mutations in SLC26A3 have been reported PMID: 25711268
10. Data demonstrate an upregulation of SLC26A3 via activation of the ERK1/2 pathway that may underlie potential antidiarrheal effects of Bifidobacterium sp. PMID: 25143346
11. Efficacy of lactobacillus acidophilus or its secreted soluble factors in alleviating inflammation and inflammation-associated dysregulation of DRA activity could justify their therapeutic potential in inflammatory diarrheal diseases. PMID: 25059823
12. The SLC26A3-NHERF4 interaction was modulated by phosphorylation; serine 329 of NHERF4-PDZ3 played a critical role in modulating binding selectivity. PMID: 22627094
13. few patients develop illnesses because of SLC26A3 mutations. PMID: 23756661
14. Slc26a3 contributes to sulfate secretion via DIDS-senstive bicarbonate-sulfate exchange in addition to being the principal DIDS-resistant chloride-bicarbonate exchanger. PMID: 23660504
15. This is the first report to demonstrate the genetic background of congenital chloride diarrhea in a single ethnic group of East Asian descent (Korean). The c.2063-1G>T mutation wa found in at least one allele of all patients. PMID: 23274434
16. these data indicate that N-glycosylation of SLC26A3 is important for cell surface expression and for protection from proteolytic degradation that may contribute to the understanding of pathogenesis of congenital disorders of glycosylation. PMID: 22159084
17. Data from pediatric patients with congenital chloride diarrhea identifies 7 novel mutations in SLC26A3, including 3 missense changes of highly conserved residues. PMID: 21694535
18. This review summarizes the current knowledge of SLC26A3 mutations and polymorphisms in congenital chloride diarrhea. [Review] PMID: 21394828
19. study describes 2 novel mutations in 2 siblings with congenital chloride diarrhea (CLD)from Andalusia; show the presence of compound heterozygous mutations as the cause of CLD in this family PMID: 21150650
20. Endogenous and recombinant human/mouse Slc26a3 do not exhibit electrogenic 2Cl-/1HCO- exchange. Acute induction of Slc26a3 Cl-/HCO3- exchange is associated with secondary membrane potential changes representing homeostatic responses. PMID: 21068358
21. These results suggest that the activity of DRA depends on its LR association, on its interaction with NHERF family proteins, and on phosphatidylinositol 3-kinase activity. PMID: 20634435
22. Increase in DRA promoter activity and expression may contribute to the upregulation of intestinal electrolyte absorption and might underlie the potential antidiarrheal effects of Lactobacillus acidophilus. PMID: 20044511
23. studies provide evidence for the involvement of STAT1 in the inhibition of SLC26A3 gene expression by IFN-gamma in the human intestine PMID: 19940027
24. Two missense mutations (S206P, D468V), two splicing defects (IVS12-1G>C, IVS13-2delA), one nonsense mutation (Q436X), one insertion/deletion mutation (2104-2105delGGins29-bp), and an intragenic deletion of SLC26A3 gene. PMID: 11524734
25. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. (SLC26A7).(SLC26A8).(SLC26A9) three entries PMID: 11834742
26. DRA binds to the second PDZ domain of E3KARP in a model that links transporters in the proximal colon through dimerization of E3KARP. PMID: 12369822
27. DRA differs from other bicarbonate transport proteins because its transport activity is not stimulated by direct interaction with Carbonic anhydrase II PMID: 12372813
28. Truncation of up to 44 C-terminal amino acids from the putatively cytoplasmic C-terminal hydrophilic domain left transport function unimpaired, but deletion of the adjacent STAS (sulfate transporter anti-sigma factor antagonist) domain abolished function. PMID: 12651923
29. DRA mediated electroneutral Cl-/HCO3- exchange but OH- was not transported and SO4(2-)/HCO3- exchange was minimal PMID: 15480750
30. male subfertility is a clinical manifestation of CLD PMID: 16412765
31. Tissue-specific co-expression of SLC26A3 with CFTR and NHE3 supports diverse functions of SLC26A3 and may have an impact on pathophysiology of male subfertility both in congenital chloride diarrhoea and in cystic fibrosis, as well as spermatoceles. PMID: 16421216
32. findings were used to develop a turnover cycle for Cl- and HCO3- transport by slc26a3 PMID: 16606687
33. indirect evidence against a role of DRA in pancreatic HCO3 secretion PMID: 16715296
34. Involvement of transcription factors in DRA expression in intestinal differentiated epithelial cells. PMID: 17761837
35. In a heterologous mammalian expression system biochemical, immunohistochemical, and ion transport experiments suggest that the four Congenital chloride-losing diarrhea mutations cause SLC26A3 transporter misfolding and/or mistrafficking PMID: 18216024
36. Functional coupling of the downregulated in adenoma Cl-/base exchanger DRA and the apical Na+/H+ exchangers NHE2 and NHE3 in intestinal epithelial cells. PMID: 19056765
37. Regulation of intestinal Cl-/HCO3- exchanger SLC26A3 by intracellular pH. PMID: 19321737
38. In HEK cells, which express little PDZK1, additional transfection of PDZK1 was required for UTP to inhibit DRA. PMID: 19447883
39. glycoprotein gene SLC26A3 new susceptibility loci for ulcerative colitis in the Japanese population. PMID: 19915573

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HGNC: 3018

OMIM: 126650

KEGG: hsa:1811

STRING: 9606.ENSP00000345873

UniGene: Hs.1650