| GENE NAME | SLC4A4 |
| CHROMOSOME | 4 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000080493 |
| UNIPROT ACCESSION NUMBER | Q9Y6R1 |
| GO MOLECULAR FUNCTION | ['protein binding', 'transmembrane transporter activity', 'symporter activity', 'inorganic anion exchanger activity', 'sodium:bicarbonate symporter activity', 'identical protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04964; hsa04972; hsa04976; R-HSA-1643685; R-HSA-382551; R-HSA-425381; R-HSA-425393; R-HSA-425407; R-HSA-5619054; R-HSA-5619102; R-HSA-5619115 |
| 2 combinations linked to SLC4A4 | OLI1680; OLI1688 |
| 2 variants linked to SLC4A4 | SLC4A4:c.1256C>T, p.Thr419Met; SLC4A4:c.149G>C, p.Gly50Ala |
| 1 disease linked to SLC4A4 | Non-Syndromic genetic keratoconus |