SLCtables

SLC26A9

Protein name: SLC26A9 Aliases: N/D Substrates: Cl-, HCO3, Ch: Cl-, HCO3- Transport type: Exchanger / Cl-, HCO3, Ch / Cl-, HCO3- Tissue and cellular expression: airway epithelial cells, gastric parietal cells, kidney (cell type ?), brain Subcellular expression: apical ? Disease: (gastric hypochlorhydria) Locus: 1q32.1 Sequence ID: NP_443166.1, NM_052934.3 NP_599152.2, NM_134325.2 Gene ID: 115019 Splice variants: 2 mRNAs, 2 ORFs, Cterm var

S26A9_HUMAN (UniProt)

Gene names: SLC26A9
Protein names and data: S26A9_HUMAN, Full=Solute carrier family 26 member 9, Full=Anion transporter/exchanger protein 9; Length: 791 a.a., Mass: 86988 Da,
fasta formatted sequence
Function: DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate
Cellular location: Membrane; Multi-pass membrane protein (Potential)
Tissue specificity: Predominantly expressed in lung at the luminal side of the bronchiolar and alveolar epithelium of lung. To a lower extent, also expressed in pancreas and prostate

Database cross-references

UniProt: Q7LBE3
NextBio: 79492
OMIM: 608481
Ensembl: ENST00000367135
GeneCard: GC01M205883
PharmGenUCSF: SLC26A9
Guide to Pharmacology: SLC26A9 (1103)
Anion channels (1103)
HGNC: HGNC:14469

Genetic variants

See also Ensembl:ENST00000367135

70 - 70 Y -> N (displays higher channel activity and enhanced chloride-bicarbonate ion exchange; dbSNP:rs75021701). VAR_068683 75021701
127 - 127 T -> N (results in smaller halide currents but not for thiocynate ion; dbSNP:rs77497889). VAR_068684 77497889
384 - 384 I -> T (in dbSNP:rs112659452). VAR_068685 112659452
575 - 575 R -> W (in dbSNP:rs139697920). VAR_068686 139697920
606 - 606 P -> L (in dbSNP:rs74146719). VAR_068687 74146719
622 - 622 V -> L (decreased plasma membrane expression which partially accounts for decreased whole cell currents; transport is reduced to about 50%; dbSNP:rs34992672). VAR_068688 34992672
744 - 744 V -> M (decreased plasma membrane expression which partially accounts for decreased whole cell currents; dbSNP:rs3811428). VAR_039801 3811428
748 - 748 H -> R (in dbSNP:rs16856462). VAR_039802 16856462