Details for Gene SLC26A4

GENE NAME SLC26A4
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000091137
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['oxalate transmembrane transporter activity', 'chloride transmembrane transporter activity', 'bicarbonate transmembrane transporter activity', 'anion:anion antiporter activity', 'iodide transmembrane transporter activity', 'sulfate transmembrane transporter activity', 'secondary active sulfate transmembrane transporter activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04918; R-HSA-1643685; R-HSA-382551; R-HSA-425393; R-HSA-425407; R-HSA-427601; R-HSA-5619046; R-HSA-5619102; R-HSA-5619115
25 combinations linked to SLC26A4 OLI242; OLI1075; OLI596; OLI586; OLI591; OLI590; OLI317; OLI1173; OLI592; OLI1488; OLI566; OLI465; OLI241; OLI1103; OLI502; OLI595; OLI1086; OLI939; OLI1100; OLI1102; OLI1495; OLI464; OLI316; OLI585; OLI473
16 variants linked to SLC26A4 SLC26A4:IVS13+9C>T, ; SLC26A4:c.919-2A>G, ; SLC26A4:c.1003T>C, p.Phe335Leu; SLC26A4:c.1300G>A, p.Ala434Thr; SLC26A4:c.1229C>A, p.Thr410Lys; SLC26A4:p.Tyr578His; SLC26A4:p.Tyr78His; SLC26A4:p.Glu29Gln; SLC26A4:c.1286C>A, p.Ala429Glu; SLC26A4:p.Leu597Ser; SLC26A4:p.Gly6Val; SLC26A4:c.765+4A>C, ; SLC26A4:c.1150-1G>A, ; SLC26A4:c.1975G>C, p.Val659Leu; SLC26A4:c.1226G>A, p.Arg409His; SLC26A4:c.1337A>G, p.Gln446Arg
3 diseases linked to SLC26A4 Pendred syndrome; Congenital hypothyroidism; Rare genetic deafness
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